Hypopigmentation is a side-effect that is more likely to be due to eczema rather than topical steroids therapy.All the options provided are potential side-effects of topical steroid therapy. They are observed when the potency of the steroid used is too high, or the amount of drug used is too much.. FTU or fingertip unit application is what is recommended, with caution, in delicate areas such as the face. Hypopigmentation can occur in eczema and is a post-inflammatory response, in contrast to the total depigmentation which is seen in vitiligo. Chronic eczema causes lichenification of skin, where the epidermis is thickened, and not skin atrophy.

Low oxygen delivery in hypotension, hypoxia, oedema, intracranial hypertension or changes in cerebral blood flow should all be prevented to avoid secondary brain injury. There is no evidence to suggest that hypothermia prevents secondary brain injuries.

Achondroplasia is one of the commonest forms of skeletal dysplasias that lead to dwarfism. Multiple skeletal deformities are associated with it but the common cranial abnormalities are macrocephaly, frontal bossing, depressed nasal bridge, narrowed foramen magnum, and the presence of communicating hydrocephalus. A prominent maxilla is not associated with achondroplasia.

A minority of affected individuals may experience severe liver failure. This happens most frequently in people with Wilson’s disease during adolescence and more commonly in women. These individuals may rapidly develop signs and symptoms of liver disease, often associated with anaemia due to breakdown of red blood cells (haemolysis) and mental confusion. In some patients, liver disease does not reveal itself, and the patient develops neurologic (brain-related) symptoms. Common neurological symptoms of Wilson disease that may appear and progress with time include tremor, involuntary movements, difficulty swallowing (dysphagia), difficulty speaking and poor articulation (dysarthria), lack of coordination, spasticity, dystonic postures, and muscle rigidity. Almost all affected individuals with the neurological symptoms of Wilson’s disease have Kayser-Fleischer rings in their eyes that can be identified by a slit lamp examination.

Various types of birthmarks are commonly seen in children of different age groups. Birthmarks can be broadly classified as pigmented and vascular birthmarks. Port-wine stain (nevus flammeus) is an example of a vascular birthmark, and is characterized by a reddish-purple discoloration of the skin due to abnormal underlying skin vasculature. Port-wine stain has also been associated with vascular diseases like Sturge-weber syndrome, which is a congenital neurocutaneous disorder. In Sturge-weber syndrome, the port-wine stain affects the skin around the ophthalmic branch of trigeminal nerve.

The clinical picture suggests tension pneumothorax which requires immediate needle decompression.

According to the Gell and Coombs classification of hypersensitivity reactions, the scenario provided is a type 4 (delayed) reaction.These reactions are mediated by T lymphocytes and cause contact dermatitis. Nickel, commonly found in cheap jewellery, is a common cause of contact dermatitis.Note:There are two main types of contact dermatitis:- Irritant contact dermatitis: It is a common, non-allergic reaction due to weak acids or alkalis (e.g. detergents). These are often seen on the hands. They present typically with erythema, and rarely, crusting and vesicles.- Allergic contact dermatitis: These are type IV hypersensitivity reactions and are often seen on the head following hair dyes.They typically present as acute weeping eczema which predominately affects the margins of the hairline rather than the hairy scalp itself. Treatment is usually with a potent topical steroid.Other options:- Allergic rhinitis is an example of a type 1 (immediate) reaction. It is an IgE mediated. It is a hypersensitivity to a previously innocuous substance.- Type 2 reactions are mediated by IgG and IgM, which binds to a cell, causing cell death. Goodpasture syndrome is an example of a type 2 hypersensitivity reaction.- Immune complexes mediate type 3 reactions. Rheumatoid arthritis is an example of a type 3 hypersensitivity reaction.

Androgen excess is one of the most common causes of advanced bone age. It usually occurs in precocious puberty or congenital adrenal hyperplasia.

Mumps presents with a prodromal phase of general malaise and fever. On examination there is usually painful parotid swelling which has high chances of becoming bilateral. In OM with effusion there are no signs of infection and the only symptom is usually hearing loss. Acute otitis externa produces otalgia as well as ear discharge and itching. Acute OM produces otalgia and specific findings upon otoscopy. In acute mastoiditis the patient experiences ear discharge, otalgia, headache, hearing loss and other general signs of inflammation.

Because the initial chest X-ray returned an anomaly, a skeletal survey is the best option. Also known as a bone survey, the skeletal survey is a series of X-rays that will help analyse the structure of all the bones in the body. Because the child is not very active yet presents with bruising, the child protection register should also be checked but only after a skeletal survey has been conducted.

The patient is most likely suffering from obstructive jaundice. Ultrasound of the abdomen is the superior diagnostic tool in detecting and assessing biliary system obstruction, because it is easy, available, accurate and non-invasive.

Recurrent bacterial infections may be due to lack of B-cell function, consequently resulting in a lack of gamma globulins production. Once the maternal antibodies have depleted, the disease manifests with greater severity and is called x-linked agammaglobulinemia also known as ‘X-linked hypogammaglobulinemia’, ‘XLA’ or ‘Bruton-type agammaglobulinemia. it is a rare x linked genetic disorder that compromises the bodies ability to fight infections.
Acute leukaemia causes immunodeficiency but not so specific.
DiGeorge syndrome is due to lack of T cell function.
Aplastic anaemia and EBV infection does not cause immunodeficiency.

The patient’s sugar levels typically show the Dawn phenomenon.Dawn phenomenon:This is an early morning rise in blood glucose levels secondary to a rise in hormones that increase blood glucose levels. The question suggests that he is undergoing a pubertal growth spurt, suggesting that an increase in these hormones is what has led to the higher morning glucose levels.Other options:- Inactivity at night-time: It is expected, and insulin dose should be adequate despite inactivity during the night.- Inadequate bedtime insulin: It is possible that this is a contributing factor. However, inadequate background insulin is also likely to result in high blood glucose in the day, which the question does not suggest.- Somogyi effect: There are no features suggestive of nocturnal hypoglycaemia that can cause the Somogyi effect.- Nocturnal glycogenesis: Glycogenesis would result in hypoglycaemia, not hyperglycaemia.

As her paracetamol level is under the required treatment threshold, she requires no medical treatment. However, she has taken a simultaneous drug overdose and excessive alcohol consumption. These two factors together require psychiatric evaluation and so she should be referred to the psychiatry ward.

The most appropriate imaging modalities to be used in this child would be CT Head, C-spine and Abdomen/Pelvis and chest X-ray (CXR).The C-spine cannot be cleared, this alongside a multi-trauma presentation means a CT C-spine is indicated rather than X-rays alone. The imaging modality for blunt trauma to the chest is CXR| if this shows significant thoracic trauma, a CT chest should be considered. Other options:- CT Head and Abdomen/Pelvis with CXR and X-ray C-spine: This child is at risk of C-Spine injury following the mechanism of trauma. He had a reduced GCS, has undergone a multi-region trauma and is now intubated. NICE head injury guidelines, therefore, recommend using CT.- CT Head, C-spine and Abdomen/Pelvis X-rays: Imaging of the chest is required following blunt trauma and for endotracheal tube position.- MRI Head: If there were concerns of abnormal neurology, then spinal MRI could be considered.- Whole-body CT: It is not recommended in children in view of the high radiation doses.

Broca’s area is usually supplied by branches from the middle cerebral artery and thus will be spared when the anterior cerebral artery is occluded.Note:The two internal carotid arteries and two vertebral arteries form an anastomosis known as the Circle of Willis on the inferior surface of the brain. Each half of the circle is formed by:1. Anterior communicating artery2. Anterior cerebral artery3. Internal carotid artery4. Posterior communicating artery5. Posterior cerebral arteries and the termination of the basilar arteryThe circle and its branches supply the corpus striatum, internal capsule, diencephalon and midbrain.

Transposition of the great arteries (TGA) is a common congenital heart lesion that presents with severe cyanosis that is likely to appear in the first day of life.

Nissl body is a neuron-specific cellular structure. It is composed of rough endoplasmic reticulum and fine granules. The rough endoplasmic reticulum contains free ribosomes, and are the hub of protein synthesis. When these substances are exposed to a cresyl violet solution, they show selective-staining by turning purple-blue. In pathologic processes, they may undergo chromatolysis.

Ewing’s sarcoma is formed by small, round, blue cells, and is common in children. The usually develop in limbs, and clinical findings include pain and inflammation, with lytic destruction showing up on X-rays.

This is probably a case of protein-induced allergic proctitis, due to dietary protein transmitted through the mother to the breast-fed child. The mother should go on a milk-free and soya-free diet but continue to breast-feed.

Cystic fibrosis is a life-threatening disorder that causes the build up of thick mucus in the lungs, digestive tract, and other areas of the body. It is a hereditary autosomal-recessive disease caused by mutations of the CFTR gene. Cystic fibrosis eventually results in bronchiectasis which is defined as a permanent dilatation and obstruction of bronchi or bronchioles.

History of recurrent infections and failure to thrive (probably due to pancreatic enzyme insufficiency) is highly suggestive of cystic fibrosis. Pseudomonas has been identified as an important respiratory pathogen in patients with cystic fibrosis.

Breslow thickness is measured from the top of the granular layer of the epidermis (or, if the surface is ulcerated, from the base of the ulcer) to the deepest invasive cell across the broad base of the tumour (dermal/subcutaneous) as described by Breslow.Margins of excision-Related to Breslow thicknessLesions 0-1mm thick – 1cmLesions 1-2mm thick – 1- 2cm (Depending upon site and pathological features)Lesions 2-4mm thick – 2-3 cm (Depending upon site and pathological features)Lesions >4 mm thick – 3cmMarsden J et al Revised UK guidelines for management of Melanoma. Br J Dermatol 2010 163:238-256.

Cataracts in infants are most commonly identified by an abnormal red reflex. Due to the high risk of amblyopia in unilateral cataracts, prompt referral to a paediatric ophthalmologist is indicated. Bilateral cataracts may occur in association with several syndromes or diseases, and these children require evaluation for these systemic disorders.Retinoblastoma is rare, but it is the most common primary intraocular tumour in children. About 80% of cases are diagnosed before age 4, with a median age at diagnosis of 2 years. It most frequently presents due to an abnormal red reflex. It is one of the few life-threatening disorders encountered in paediatric ophthalmology. Intraocular retinoblastoma is very treatable, but the mortality for metastatic disease is high. Identification of tumours before systemic spread is critical. Most children with large unilateral tumours will require enucleation (surgical removal of the eye), but the eye and vision may sometimes be preserved if the tumours are identified when they are small.

Injuries to the peroneal nerve can cause numbness, tingling, pain, weakness and foot drop. The branches of the common peroneal nerve innervate and control the muscles in the legs that lift the ankle and toes upward (dorsi flexion).

Red blood cells (RBC) have a life span of 120 days in humans.Aging of RBC includes changes in many properties: decreased metabolic activity, morphological alterations, including decreased cell volume and changes in cell shape, and quantitative and qualitative modulations of the surface.

Fanconi anaemia, a rare autosomal recessive condition, presents with congenital abnormalities and defective hemopoiesis. Clinical signs include pallor and bruising. Hypoplasia of the thumbs and radial hypoplasia are two of the most common congenital abnormalities. Conductive deafness is also common. Those with Fanconi anaemia have a higher risk for developing acute myeloid leukaemia.

According per the national guidelines, 5 inflation breaths should be given with a gas pressure of 30cmH2O for term babies. Each breath should be given for 2-3 seconds. Pre-term babies should be aerated with a lower pressure of 20-25cmH2O.

Internal abdominal bleeding is most probably the cause of the child’s shock, especially unresponsive to fluid boluses.

Chickenpox is caused by the varicella-zoster virus. The clinical signs of infection are fever and a maculopapular rash – this is a unique rash with both flat and raised lesions on the skin.

Leiner disease belongs to a heterogeneous group of disorders associated with permanent or temporary complement C5 plasma deficiency. It is a rare disease that follows an autosomal recessive pattern of transmission. It is prevalent in female, breast-fed babies. The hallmark of this syndrome is severe diarrhoea, severe generalized seborrheic dermatitis, central nervous system defects, marked wasting, recurrent local and systemic infections, and failure to thrive.

Scurvy is a condition caused by a dietary deficiency of vitamin C, also known as ascorbic acid. Humans are unable to synthesize vitamin C, therefore the quantity of it that the body needs has to come from the diet. The presence of an adequate quantity of vitamin C is required for normal collagen synthesis. In scurvy bleeding tendency is due to capillary fragility and not coagulation defects, therefore blood tests are normal.

Among the given options, psoriasis is not associated with hypertrichosis.The causes of hypertrichosis include:- Drugs: minoxidil, ciclosporin, and diazoxide.- Congenital hypertrichosis lanuginosa and congenital hypertrichosis terminalis.- Porphyria cutanea tarda- Anorexia nervosa

Because of the patient’s history of chronic analgesic use of daily paracetamol intake, the most likely diagnosis of this case is Analgesic misuse headache. In these cases, the headache is only temporarily relieved by analgesics. Treatment involves gradual withdrawal of analgesics.

The clinical picture suggests a vitamin K deficiency haemorrhagic disease of the new-born and requires IV vitamin K and fresh frozen plasma. This usually presents with gastrointestinal bleeding, bleeding from the umbilical stump and bruising after 2–7 days.

Burkitt lymphoma is associated with the c-myc gene translocation, usually t(8|14). Burkitt lymphoma is a rare high-grade non-Hodgkin lymphoma endemic to west Africa and the mosquito belt. It has a close association with the contraction of Epstein-Barr virus (EBV). Burkitt lymphoma often presents with symmetrical painless lymphadenopathy, systemic B symptoms (fever, sweats, and weight loss), central nervous system involvement, and bone marrow infiltration. Classically in the textbooks, the patient also develops a large jaw tumour.Other aforementioned options are ruled out because:1. t(9|22)—Chronic myeloid leukaemia2. t(15|17)—Acute promyelocytic leukaemia3. t(14|18)—Follicular Lymphoma4. t(11|14)—Mantle Cell Lymphoma

In people with juvenile myoclonic epilepsy, symptoms can be brought on by: -Sleep deprivation-Psychological stress-Alcohol and drug use-Noncompliance of medication-Flickering lights such as strobe lights -Menses-Time of day – usually mornings

Biliary atresia is a rare condition that usually becomes symptomatic 2 to 8 weeks after birth. It can be congenital or acquired. Typical symptoms include jaundice, weight loss, dark urine and pale stools.

Children who present with ruptured appendices are at increased risk of intra abdominal collections or abscesses. A swinging temperature is the first clue in indicating an intra abdominal abscess in a patient who had recently undergone surgery for a perforated appendix. The best course of action is therefore to get an ultrasound of the fluid collection before proceeding to rule out any other complication.

The combination of frequent infections, eczema, and thrombocytopaenia are characteristic of Wiskott-Aldrich syndrome, which is due to an abnormality in the WASP gene. It is an X-linked recessive disorder that causes primary immunodeficiency owing to a combined B- and T-cell dysfunction.The other listed options are:1. PKD1: polycystic kidney disease2. CFTR: cystic fibrosis3. HFE1: haemochromatosis4. RET: multiple endocrine neoplasia, Hirschsprung’s disease

Scabies infection in neonates typically manifests as nodular eruptions involving the face, neck, scalp, palms, and soles in contrast to the predominant involvement of the hands, wrists, elbows, and ankles in adults. Differential diagnoses for the nodular eruption in neonates are broad, and scabies often is misdiagnosed as Langerhans cell histiocytosis, urticaria pigmentosa, or another pruritic, bullous, or lymphoproliferative dermatosis. Histopathology of the reactive nodules usually is not diagnostic, because scabetic organisms are often unidentified and histologic findings are nonspecific. Furthermore, because of the atypical presentation, scabies in children is often missed until persons in close contact with the child present with similar symptoms. Thus, a thorough history and close follow-up are crucial to avoid misdiagnosis and unnecessary aggressive treatment. Moreover, synchronized treatment of patients and their close contacts is needed to ensure the success of therapy, considering that relapse is 2-3 times more frequent in children and infants

Relative risk = (Incidence in exposed group)/incidence in unexposed group). So in this case RR = (50/100)/(50/200) = 2.

Infants may require tracheal intubation if:- direct tracheal suctioning is required- effective bag-mask ventilation cannot be provided- chest compressions are performed- endotracheal (ET) administration of medications is desired- congenital diaphragmatic hernia is suspected, or – a prolonged need for assisted ventilation exists.

Somatropin is a recombinant human growth hormone used to treat growth failure conditions associated with natural growth hormone deficiencies. According to the UK National Institute for Health and Care Excellence, these conditions include, Prader-Willi syndrome, Noonan syndrome, short stature Homeobox (SHOX) gene deficiency, Turner’s syndrome, chronic renal insufficiency and children who are small for gestational age. Treatment of short stature in achondroplasia has not seen any significant changes with somatotropin.

Polycythaemia is a condition in which there is an increased red cell mass and increasing blood viscosity, which decreases its ability to flow. It is not associated with food allergies, but is fundamentally caused by either an overproduction of red blood cells, or a reduction in the volume of plasma. Abdominal pain, constipation, loose and frequent stools, and pallor are all non IGE mediated symptoms of food allergy according to NICE guidelines in the UK.

Among the options provided, zidovudine causes lipoatrophy as a side effect.Zidovudine: Although both hypertrophy and atrophy are described related to HIV medications, nucleoside reverse transcriptase inhibitor (NRTIs) such as zidovudine and stavudine are closely associated with fat loss.Other options:- Enfuvirtide is an HIV-fusion inhibitor. Lipoatrophy is not commonly associated with this drug.- Efavirenz is an NNRTI, which is not associated with lipoatrophy. Common side effects include neuropsychiatric effects, rash and nausea. – Ganciclovir is not an anti-HIV medication and is used for cytomegalovirus (CMV) infections.- Raltegravir is an integrase inhibitor and is associated with fat gain.

Adrenal insufficiency is a serious medical condition that leads to inadequate secretion of corticosteroids. The consequences of this deficiency are numerous electrolyte and acid-base imbalances, which include hyponatremia, hyperkalaemia, hypercalcemia, hypoglycaemia, metabolic alkalosis, and dehydration.

Group B beta-haemolytic Streptococcus (GBS) and Escherichia coli are the most common cause of early sepsis. Group B Streptococcus (GBS), also known as Streptococcus agalactiae, is best known as a cause of postpartum infection and as the most common cause of neonatal sepsis. The GBS organism colonizes the vagina, GI tract, and the upper respiratory tract of healthy humans. GBS infection is almost always associated with underlying abnormalities. In elderly persons aged 70 years or older, GBS infection is strongly linked with congestive heart failure and being bedridden.Penicillin remains the drug of choice for group B streptococcal infection but resistance may occur.

Breastfeeding may be significantly impaired (up to 25%) by breast augmentation. Equally, breast engorgement, which occurs due to vascular congestion, reduces nipple protrusion and subsequent ability to breastfeed successfully. In the latter, regular feeding or expressing is required.

Treacher Collins syndrome is a congenital disorder transmitted in an autosomal dominant fashion. The basic abnormality is the TCOF 1 gene mutation, which leads to a multitude of clinical features, of which the most striking is the symmetrical craniofacial deformities. Important clinical features include conductive deafness, coloboma of lower eyelids, cleft palate, antimongoloid (short and downward slanting) palpebral fissures, deformed or absent ears, sleep apnoea, and airway issues. Hirsutism is not a recognized feature of this syndrome.

The sympathetic chain lies posterior to the parietal pleura. During a thorascopic sympathectomy, this structure will have to be divided. The intercostal vessels lie posteriorly. They may be damaged with troublesome bleeding but otherwise are best left alone as the deliberate division will not improve surgical access.The sympathetic nervous system:The cell bodies of the preganglionic efferent neurones lie in the lateral horn of the grey matter of the spinal cord in the thoracolumbar regions.The preganglionic efferents leave the spinal cord at levels T1-L2. These pass to the sympathetic chain.Lateral branches of the sympathetic chain connect it to every spinal nerve. These postganglionic nerves will pass to structures that receive sympathetic innervation at the periphery.Sympathetic chains:These lie on the vertebral column and run from the base of the skull to the coccyx.Clinical correlation:Interruption of the head and neck supply of the sympathetic nerves will result in an ipsilateral Horner’s syndrome.For the treatment of hyperhidrosis, the sympathetic denervation can be achieved by removing the second and third thoracic ganglia with their rami. Removal of T1 will cause a Horner’s syndrome and is therefore not performed.In patients with vascular disease of the lower limbs, lumbar sympathectomy may be performed, either radiologically or (more rarely now) surgically. The ganglia of L2 and below are disrupted. Care should be taken to preserve the L1 ganglion. If it is removed in male patients, ejaculation may be compromised.

The most probable diagnosis for this patient would be Coarctation of Aorta (CoA).Infants with CoA present within the first few weeks of life with signs suggestive of congestive cardiac failure and general circulatory shock. In these patients, the aorta is supplied by the right ventricle, via the ductus arteriosus. Pathophysiology:When the left ventricle supplies the aorta via the aortic isthmus, children are usually asymptomatic or may present with occasional complaints of leg pain. Associated cardiac anomalies are uncommon but for a bicuspid aortic valve, which is present in approximately 50% of cases. Good collateral circulation usually develops in these patients, which in the long term, causes notching of ribs. Clinical Presentation:Clinically, there may be hypertension in the upper limbs (or higher BP readings than in the lower limbs), and leg pulses are absent, or weak and delayed. A systolic click and aortic ejection systolic murmur are heard, caused by the bicuspid aortic valve. Management:The primary medical management is to treat hypertension. After stabilization, the patient can undergo definitive surgical repair. Transcatheter balloon angioplasty of the coarctation is controversial, but ballooning +/- stenting of re-coarctation following surgery is commonly performed.Systemic hypertension may occur following repair, even in the absence of re-coarctation necessitating the re-initiation/continuation of antihypertensive therapy in these patients.

The most important test recommended among the given options is the measurement of creatine kinase levels.The child presents with a gross motor developmental delay, and multiple investigations can be undertaken to confirm the diagnosis. However, the clinching point in the given clinical scenario is the presence of a positive Gower’s sign.Gower’s sign is an excellent screening test for muscle weakness, which is typically observed as an early clinical feature of Duchenne muscular dystrophy (DMD).Creatinine kinase measurement is an easy and rapid test to aid in the diagnosis. Early diagnosis has significant implications not only for the child but for the family, particularly for genetic counselling. DMD is an X-linked recessive disorder, with an abnormal gene at the X chromosome at the Xp21 locus. It is a progressive degenerative muscular condition where muscle fibres are replaced by fat and fibrosis (i.e., become dystrophic).

Point mutations are the type of mutations in which only a single nucleotide of the DNA is either deleted, substituted or a new single nucleotide is inserted into the DNA, causing alterations in the original normal DNA sequencing. The examples of point mutations include hemochromatosis, sickle cell disease, and Tay-Sach’s disease. Huntington’s disease is a trinucleotide repeat disorder. Down’s syndrome is characterized by an extra copy of chromosome 21, while Klinefelter syndrome is marked by an extra X chromosome. Fragile X syndrome is also a trinucleotide repeat disorder.

A 3 year old should be able to match two colours, copy a circle, walk up and down the stairs, and jump up and down. By the time they are 4 they can copy a cross, draw a person with three parts, count to 10, stand on one foot.

Embryologically the testes are retroperitoneal structures in the posterior abdominal wall, attached to the anterolateral abdominal wall by the gubernaculum. The gubernaculum ‘pulls’ the testes through the deep inguinal ring, inguinal canal and superficial inguinal ring and over the pelvic brim. The gubernaculum is preceded by the processus vaginalis that is derived from the peritoneum anterior to the testes. The processus vaginalis pushes the muscle and fascial layers. These eventually make up the canal and the spermatic cord, into the scrotum. The gubernaculum persists as the scrotal ligament while part of the processus vaginalis remains as a bursa-like sac i.e. the tunica vaginalis testes. The testes therefore could be caught in any one of these places along its path of descending. The testes are never in the perineum.

This girl most likely has Turner syndrome (TS) also known as 45,X, a condition in which a female is partly or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically, they are without menstrual periods, do not develop breasts, and are unable to have children. Heart defects, diabetes, and low thyroid hormone occur more frequently. Most people with TS have normal intelligence. Many, however, have troubles with spatial visualization such as that needed for mathematics. Vision and hearing problems occur more often. Turner syndrome is not usually inherited from a person’s parents. No environmental risks are known and the mother’s age does not play a role. As a chromosomal condition, there is no cure for Turner syndrome. However, much can be done to minimize the symptoms including prescribing growth hormone, either alone or with a low dose of androgen, and oestrogen replacement therapy which is crucial long term for maintaining good bone integrity, cardiovascular health and tissue health

The most probable diagnosis in this patient would be pulmonary stenosis. Pulmonary Stenosis:Pulmonary valve murmurs are heard in the upper left sternal edge, associated with a thrill but no desaturation in the absence of an additional shunt. The ECG changes suggest right ventricular hypertrophy. Pulmonary stenosis is often well tolerated in childhood unless severe. These should be monitored with serial echocardiography, and balloon pulmonary valvoplasty should be considered once the pressure gradient reaches 64 mmHg.Other options:- Atrial septal defect: While atrial septal defects are associated with right ventricular outflow tract murmurs, they would not cause a thrill.- Patent ductus arteriosus: PDA murmurs can be audible in the left upper sternal edge, but would normally be audible in the left infraclavicular area and be continuous rather than ejection systolic. This left to right shunt would not cause desaturation but does cause left-sided volume loading and hence left-sided ECG changes.- Tetralogy of Fallot: Ventricular septal defect, overriding aorta, subpulmonary stenosis, and right ventricular hypertrophy. This would often cause a ULSE murmur with a thrill and RVH on ECG. However, this degree of obstruction would cause shunting from right to left, and this child would be desaturated.- Ventricular septal defect: Isolated ventricular septal defects cause pansystolic murmurs at the left lower sternal edge. They would have left-sided ECG changes and normal saturations (in the absence of pulmonary hypertension).

The most probable diagnosis for this patient would be a duplex kidney with an ectopic ureter inserting below the bladder neck. Rationale: The Weigert-Myer law states that the upper moiety ureter inserts inferior and medial to the lower moiety ureter. Other options:- Horseshoe kidney would display as a single pelvic kidney on an ultrasound scan.- Ureterocele would be a cystic lesion within the bladder or may prolapse at birth. – Continence should not be affected by polycystic kidney disease. – The overactive bladder would cause frequency and urgency, neither of which is mentioned in the history.

PARACHUTE REFLEX: This reflex occurs in slightly older infants when the child is held upright and the baby’s body is rotated quickly to face forward (as in falling). The baby will extend his arms forward as if to break a fall, even though this reflex appears long before the baby walks.Newborn reflexes are:Rooting reflex:This reflex starts when the corner of the baby’s mouth is stroked or touched. The baby will turn his or her head and open his or her mouth to follow and root in the direction of the stroking. This helps the baby find the breast or bottle to start feeding. This reflex lasts about 4 months.Suck reflex:Moro reflex:The Moro reflex is often called a startle reflex. That’s because it usually occurs when a baby is startled by a loud sound or movement. In response to the sound, the baby throws back his or her head, extends out his or her arms and legs, cries, then pulls the arms and legs back in. This reflex lasts until the baby is about 2 months old.Tonic neck reflex:When a baby’s head is turned to one side, the arm on that side stretches out and the opposite arm bends up at the elbow. This is often called the fencing position. This reflex lasts until the baby is about 5 to 7 months old.Grasp reflex:Stroking the palm of a baby’s hand causes the baby to close his or her fingers in a grasp. The grasp reflex lasts until the baby is about 5 to 6 months old. A similar reflex in the toes lasts until 9 to 12 months.Stepping reflex:This reflex is also called the walking or dance reflex because a baby appears to take steps or dance when held upright with his or her feet touching a solid surface. This reflex lasts about 2 months.

The baby has duodenal atresia.Presenting symptoms and signs are results of high intestinal obstruction. Duodenal atresia is typically characterized by the onset of vomiting within hours of birth. While vomitus is most often bilious, it may be nonbilious because 15% of defects occur proximal to the ampulla of Vater. Occasionally, infants with duodenal stenosis escape detection of an abnormality and proceed into childhood or, rarely, into adulthood before a partial obstruction is noted. Nevertheless, one should assume any child with bilious vomiting has a proximal GI obstruction until proven otherwise, and further workup should be begun expeditiously.congenital duodenal atresia is one of the more common intestinal anomalies treated by paediatric surgeons, occurring 1 in 2500-5000 live births. In 25-40% of cases, the anomaly is encountered in an infant with trisomy 21 (Down syndrome).

The most probable diagnosis for this patient would be congenital hypertrophic pyloric stenosis.Congenital Hypertrophic Pyloric Stenosis (CHPS):Pyloric stenosis should be ruled out in any baby who presents with a long-term history of vomiting and failure to thrive. Infants typically present with projectile, non-bilious vomiting and are said to be hungry and wanting to feed despite poor weight gain. A blood gas would be helpful in this instance, although the diagnosis can be made more accurately by observing the stenosis during ultrasound. Many infants have symptoms of gastroesophageal reflux disease, although only a small minority are unable to gain weight adequately. A UTI in infants can present with non-specific symptoms, but they might have a fever and can show poor feeding. Malrotation will present with bilious vomiting.The definitive surgical management is the Ramsteadt’s pyloromyotomy.

The symptoms of a partial generalized seizure are consistent with this patient.

All the given development milestones are compatible with the given age.

Endothoracic fascia: the connective tissue (fascia) that is between the costal parietal pleura and the inner wall of the chest wall.
Costomediastinal recess: the point where the costal pleura becomes mediastinal pleura.
Costodiaphragmatic recess: is the lowest point of the pleural sac where the costal pleura becomes diaphragmatic pleura.
Cupola: the part of the parietal pleura that extends above the first rib level into the root of the neck.
Costocervical recess: this is a made-up term.
Peritracheal fascia: a layer of connective tissue that invests the trachea.

Among the treatment options provided, the most appropriate would be prednisolone 1-2 mg/kg.Other options:- Dexamethasone 0.15 mg per kg is the correct dose based on new trials and BNF guidance.- Inhaled budesonide 2mg would be a more appropriate dose.- Nebulised adrenaline may also be used.Croup:Laryngotracheobronchitis caused most commonly by parainfluenza virus. It most commonly affects children between 6 months to 3 years.Seasonal peaks: Most prevalent in autumn and spring.It starts as viral URTI then progresses to barking cough and a hoarse cry. Stridor and respiratory distress may occur. The illness can last from two days to 2 weeks.Relevant differential diagnoses include epiglottitis (the child will be septic with high temp and drooling) and inhaled foreign body.All children with moderate/severe croup should be given one dose of oral dexamethasone.Further doses may be needed if children have rebound symptoms.

This patient has pulmonary renal syndrome which is most commonly due to an ANCA positive vasculitis. The history of recurrent epistaxis makes Wegener’s granulomatosis the most probable diagnosis. Wegener’s granulomatosis, microscopic polyangiitis, and idiopathic pauci-immune necrotizing crescentic glomerulonephritis (NCGN) are strongly associated with antineutrophil cytoplasmic autoantibodies (ANCAs) directed against either proteinase 3 (anti-PR3) or myeloperoxidase (anti-MPO).

Although some individuals with Anorexia Nervosa exhibit no laboratory abnormalities, the semistarvation characteristic of this disorder can affect most major organ systems and produce a variety of disturbances. The induced vomiting and abuse of laxatives, diuretics, and enemas can also cause a number of disturbances leading to abnormal laboratory findings.Haematology: Leukopenia and mild anaemia are common| thrombocytopenia occurs rarely.Chemistry: Dehydration may be reflected by an elevated blood urea nitrogen (BUN). Hypercholesterolemia is common. Liver function tests may be elevated.Hypomagnesemia, hypozincaemia, hypophosphatemia, and hyperamylasaemia are occasionally found. Induced vomiting may lead to metabolic alkalosis (elevated serum bicarbonate), hypochloraemia, and hypokalaemia, and laxative abuse may cause a metabolic acidosis. Serum thyroxine levels are usually in the low-normal range| triiodothyronine levels are decreased. Hyperadrenocorticism and abnormal responsiveness to a variety of neuroendocrine challenges are common.In females, low serum oestrogen levels are present, whereas males have low levels of serum testosterone. There is a regression of the hypothalamic-pituitary-gonadal axis in both sexes in that the 24-hour pattern of secretion of luteinizing hormone (LH) resembles that normally seen in prepubertal or pubertal individuals.

Although initially thought to affect only boys, girls with DMD also have an estimated 10% chance of inheriting the condition. In girls, DMD may present with all or some clinical manifestations.

The clinical features and the presentation of this child and the MRI findings are highly suggestive of acute lymphoblastic leukaemia.Anaemia and neutropenia, with a borderline platelet count as well as the tumour infiltration on both femurs on the MRI scan, are suggestive of a widespread Marrow disorder. Based on the age of the patient, acute lymphoblastic leukaemia is more appropriate as it is more common than acute myeloid leukaemia in children and can present with bony pain in this age group.Other options:- Acute myeloid leukaemia: Although this is the most common leukaemia that is seen in adults, it rarely presents in children. – Ewing’s sarcoma: This would usually present in a more unilateral manner, and would only be associated with cytopenia if there was direct bone marrow involvement.- HIV infection: It would be very rare in this group. HIV infection can cause a wide array of signs and symptoms, but we are told that the MRI scan is highly suggestive of tumour infiltration, which would be uncommon in this condition. – Juvenile arthritis: It is much less common. There is also nothing to find on examination, such as swollen or painful joints, which would usually be seen in this condition.

This child is experiencing delayed speech. By the age of 2, a child should be able to combine at least 2 words to make a very simple sentence.

Tetralogy of Fallot (TOF), a congenital heart defect, includes the following: right ventricular hypertrophy, ventricular septal defect, abnormal position of the aorta and pulmonary valve stenosis. The O2 saturation in patients with TOF is typically lower than normal and the condition usually becomes symptomatic early in life. A feature of the disease with high diagnostic significance is squatting or crouching of the infant as a compensatory mechanism to increase the peripheral vascular resistance.

At the age of three years a child is to be able to dress and undress himself with supervision, eat with a spoon and fork, build a tower with 9 cubes, give their full name and copy a circle. The child will not be able to make good cuts with scissions until he is about 5 years old.

The selection process is based on five requirements and essentially aims to select a random representative cohort through:1.Isolating a group for which there is a greater or lesser chance of detecting a possible difference between the treatments compared|2.Establishing a homogeneous group in order to reduce the variability of response, thus making statistical comparison more sensitive and decreasing the risk of bias due to the constitution of non-homogeneous groups|3.Obtaining representative samples of the affection studied|4.Defining the rules corresponding to realistic recruitment|5.Respecting ethical obligations.

Three physical changes – breast budding, pubic hair growth, and axillary hair growth in the order mentioned precede menarche. These changes are due to oestrogen, a hormone essential for pubertal development.The various pubertal changes in males include:-Testicular growth: It is the first sign of puberty occurring at around 12 years of age (Range = 10 – 15 years).- Testicular volume: An increase in the volume of testicles to 4 ml indicates the onset of pubertyThe various pubertal changes in females include:- The first sign is breast development at around 11.5 years of age (range = 9-13 years)- Followed by the onset of height spurt reaching the maximum in puberty (at 12 years of age)- The final change that occurs is termed menarche at 13 (11-15) years of age.Some of the other pubertal changes include:- Gynecomastia may develop in boys- Asymmetrical breast growth may occur in girls- Diffuse enlargement of the thyroid gland

Based on the presentation, the patient is probably a case of Crohn’s disease. The first-line treatment of Crohn’s disease is exclusive enteral nutrition.Exclusive enteral nutrition (EEN)This involves drinking a protein-based formula exclusively for 6–8 weeks. It has been shown to have superior mucosal healing when compared with steroids. Furthermore, it is nutritionally advantageous when compared to steroids and does not have the side-effect profile of steroids.Other options:- Intravenous steroids: This is the first-line treatment for ulcerative colitis (UC) or Crohn’s disease if there is rectal disease (which is not the case here). Side-effects include adrenal suppression, behavioural effects, osteopenia and changes in adipose tissue distribution.- Oral steroids: This can be used if EEN is not possible. However, the side-effect profile is less favourable and is not as effective concerning mucosal healing.- Parental nutrition and surgery: They may be occasionally required in severe cases that have failed first-line therapy.

Protein energy malnutrition often presents in two common forms, Kwashiorkor and Marasmus. Kwashiorkor is characterised by a protein deficiency with an additional inadequate calorie intake. As a result, affected children present with oedema, muscular atrophy, and their weight for age is 60-80% of the expected weight. Their cutaneous tissue is however preserved. Marasmus on the other hand is characterised by a severe calorie deficiency leading to atrophy of the muscles and adipose tissue, with weight loss being less than 60% of the normal. In both cases, if the child is not promptly rehabilitated, the malnutrition could cause irreversible damage, such as hepatic, cardiac and renal impairments.

Anorexia nervosa is associated with a decrease in muscle mass, which is one of the primary locations of creatinine metabolism. Due to this, plasma creatinine levels are found to be decreased in patients with anorexia. Other blood chemistry derangements in patients of anorexia nervosa include hypercortisolism, hypoglycaemia, low free T3 levels, and hypercholesterolemia.

Klinefelter’s syndrome is the most common sex chromosome linked disorder with a karyotype of 47XXY. The incidence of the disease is 1 in 500-1000 male births. Childhood presentation consists of unusual growth spurt along with learning difficulties and delayed speech. The adolescence is marked by abnormal sexual maturation leading to hypogonadism and sub-fertility in adulthood.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency in humans.It has a high prevalence in persons of African, Asian, and Mediterranean descent. It is inherited as an X-linked recessive disorder.G6PD deficiency is polymorphic, with more than 300 variantsG6PD deficiency can present as neonatal hyperbilirubinemia. Besides, persons with this disorder can experience episodes of brisk haemolysis after ingesting fava beans or being exposed to certain infections or drugs. Less commonly, they may have chronic haemolysis. However, many individuals with G6PD deficiency are asymptomatic.Most individuals with G6PD deficiency do not need treatment. However, they should be taught to avoid drugs and chemicals that can cause oxidant stress. Infants with prolonged neonatal jaundice as a result of G6PD deficiency should receive phototherapy with a bili light.

The characteristic cells in granulomatous inflammation are giant cells, formed from merging macrophages and epithelioid cells elongated with granular eosinophilic cytoplasm. Granulomatous reactions are seen in patients with tuberculosis. A tuberculous/caseating granuloma is characterised by a zone of central necrosis lined with giant multinucleated giant cells (Langhans cells) and surrounded by epithelioid cells, lymphocytes and fibroblasts. The caseous zone is present due to the damaged and dead giant cells and epithelioid cells.
Mast cells are only few in number and fibroblasts lay down collagen.
Basophils are not present.
The giant cell made up of macrophages are the most abundant cells in this inflammatory process.

A lymphangioma is a swelling or mass that occurs mainly in the head, neck, and mouth. Lymphangiomas are the result of a congenital condition and are usually apparent at birth, or at least by the time a person is 2 years old. It is rare in adult population and when detected, it can be treated with surgical excision. Branchial cyst in most cases does not transilluminate which lymphangioma does.

When a child does not hear the sound in the middle during Weber test, it means they either they have a conductive hearing loss on the side they hear the sound, or a sensorineural hearing loss on the opposite side. Rinne’s test helps distinguish between the two. In this particular case, the hearing loss is most probably conductive due to the middle ear effusion. Therefore, Weber’s test should be localised to the left and Rinne’s should be positive on the right.

The clinical presentation of the boy suggests the involvement of the right frontal lobe.Psychiatric or behavioural disturbances secondary to frontal lobe lesions exhibit lateralisation. The lesions of the left hemisphere are associated with depression, especially if the lesion involves the dorsolateral portion of the prefrontal cortex. Whereas, lesions of the right hemisphere are associated with impulsivity, disinhibition, and aggression, as it is the case with the child in question.Presenting symptoms of lobar dysfunctions:- Frontal lobe: Contralateral hemiplegia, impaired problem solving, disinhibition, and lack of initiative. Broca’s aphasia and agraphia suggest the involvement of the dominant hemisphere.- Temporal lobe: Wernicke’s aphasia (dominant hemisphere involvement), homonymous upper quadrantanopia and auditory agnosia (non-dominant hemisphere involvement).- Parietal lobe: Anosognosia, dressing apraxia, spatial neglect and constructional apraxia are observed when the non-dominant hemisphere is involved. Gerstmann’s syndrome is observed when the dominant hemisphere is involved.- Occipital lobe: Visual agnosia, visual illusions and contralateral homonymous hemianopia.

Exposure to excessive androgens is usually accompanied by premature epiphyseal maturation and closure, resulting in a final adult height that is typically significantly below that expected from parental heights. congenital adrenal hyperplasia (CAH) is associated with precocious puberty caused by long term exposure to androgens, which activate the hypothalamic-pituitary-gonadal axis. Similarly, CAH is associated with hyperpigmentation and hyperreninemia due to sodium loss and hypovolaemia.

Toe walking refers to a pattern of walking in which the infants walk on the balls of their feet, without putting the heel of the feet on the ground. It is considered normal under the age of 2 years, but if it continues beyond that, it can signify some underlying pathology. The diseases that can be associated with toe walking include unilateral hip dislocation, Spinal tumours, Duchenne muscular dystrophy, prematurity, and cerebral palsy. Waardenburg’s syndrome is an autosomal dominant disorder, causing sensorineural deafness, and heterochromatic irises. Toe walking is not a feature.

McCune–Albright syndrome, characterised by polyostotic fibrous dysplasia, café au lait spots, sexual precocity, and hyperfunction of multiple endocrine glands, is the result of G-protein abnormality.

In case control studies, observational studies are made to compare two groups, individuals with a certain condition, to those without the condition, with all other factors being equal. In the situation presented by the question, the study was to determine whether a prior risk factor, a low birth weight, was associated with later developing adolescent hypertension, using a paired t-test to statistically determine whether there was indeed a significant association between the two conditions. Case control studies only help to draw associations between two groups and therefore cannot indicate causation. In this scenario we are also not given the p value to determine whether the association is statistically significant. Therefore there is not enough evidence to conclude whether or not birthweight affects the development of adolescent hypertension.

Based on the studies, genetic factors are responsible for approximately 60 % DVT cases. Factor V (FV) Leiden which is the most common cause of inherited thrombophilia, predisposes patients to DVT because of resistance to protein C.The heritable causes of deep vein thrombosis, from most to least common are:Factor V LeidenProthrombin G20210A variantProtein C deficiencyProtein S deficiencyAntithrombin deficiencyVon Willebrand disease and thalassaemia are not causes of DVT.

Fine motor development involves greater use of the hands to perform more precise tasks. By 6 -12 months children should be able to reach for small objects and pass an object from one hand to the other. From 1 -2 years they can perform more complex tasks such a building a tower of blocks, feeding themselves, and turning knobs. In terms of pencil skills, they should be able to imitate scribbles and then spontaneously scribble. By the age of 2 years they can draw a line, and by three they can draw a circle. From the age of 3.5 they can draw a cross, 4.5 – a square, 5 – a triangle, and 6 a diamond.

Time and EventWeek 1: ImplantationWeek 2: Formation of bilaminar diskWeek 3: Formation of primitive streakFormation of notochordGastrulationWeek 4: Limb buds begin to formNeural tube closesHeart begins to beatWeek 10: Genitals are differentiated

6 month old milestones:Social and Emotional:Knows familiar faces and begins to know if someone is a stranger Likes to play with others, especially parents Responds to other people’s emotions and often seems happy Likes to look at self in a mirror Language/Communication:Responds to sounds by making sounds Strings vowels together when babbling (“ah,” “eh,” “oh”) and likes taking turns with parent while making sounds Responds to own name Makes sounds to show joy and displeasure Begins to say consonant sounds (jabbering with “m,” “b”) Cognitive (learning, thinking, problem-solving):Looks around at things nearby Brings things to mouth Shows curiosity about things and tries to get things that are out of reach Begins to pass things from one hand to the other Movement/Physical Development:Rolls over in both directions (front to back, back to front) Begins to sit without support When standing, supports weight on legs and might bounce Rocks back and forth, sometimes crawling backwards before moving forward

The most probable diagnosis for this patient would be Edward syndrome.Edward syndrome results from trisomy 18. It is the second most common syndrome after Down syndrome. 60% of cases die within 48 hours, and 90% within the first year due to apnoeas. Cardiovascular abnormalities include atrial septal defect, ventricular septal defect and a persistent ductus arteriosus. There is no association with exophthalmos, but it may occur. Right choroid plexus cysts are found on coronal imaging, and 40–70% at post mortem are shown to have multiple large bilateral choroid plexus cysts (>10 mm). These may not become pathological but usually trigger an anomaly scan. Around 1% of cases may present with only a cyst, but 4% may present with other abnormalities.Other options:- Children with the velocardiofacial syndrome have a classic facial appearance with hypertelorism, a tubular nose, a cleft lip/palate abnormality and cardiac anomalies. – Children with Patau syndrome usually present with midline defects and are less likely to have rocker-bottom feet. – Children with Treacher Collins syndrome present with abnormalities of the branchial arches and pharyngeal pouches.

The given presentation is highly suggestive of withdrawal effect of ketamine.Ketamine is known for its unique property of inducing dissociative anaesthesia. Emergence phenomenon (as seen in the child in question) is an adverse effect that occurs during recovery from dissociative anaesthesia. The components of emergence phenomenon include a euphoric state associated with hallucinations.

Primitive reflexes are central nervous system responses, many of which disappear as a child matures. Retention of these reflexes may point to atypical neurology such as in cerebral palsy or stroke. However, some persist into adulthood. The stepping reflex is present from birth and normally disappears by 6 weeks, while the moro reflex is present from birth to about 4 months. The asymmetrical tonic neck reflex disappears by about 6 months. Reflexes that persist include the head righting reflex which develops at 6 months, and the parachute reflex which develops at 9 months.

Scarlet fever is a childhood infectious disease caused by group A Streptococcus. It produces a papular rash, which is classically described as a sand-paper rash. The rash initially appears on the trunk, groin, and underarms and then spreads to extremities, usually sparing the palms and soles. Circumoral area is also spared, giving it pallor-like appearance. Diseases like erythema multiforme, contact dermatitis, staphylococcal scalded skin syndrome, and rubella produce a rash that classically affects the palms and soles.

Certain CHDs may present with a differential cyanosis, in which the preductal part of the body (upper part of the body) is pinkish but the post ductal part of the body (lower part of the body) is cyanotic, or vice versa (reverse differential cyanosis). The prerequisite for this unique situation is the presence of a right-to-left shunt through the PDA and severe coarctation of the aorta or aortic arch interruption or severe pulmonary hypertension. In patients with severe coarctation of the aorta or interruption of the aortic arch with normally related great arteries, the preductal part of the body is supplied by highly oxygenated pulmonary venous blood via the LA and LV, whereas the post ductal part is supplied by deoxygenated systemic venous blood via the RA, RV, main pulmonary artery (MPA) and the PDA. In the new-born with structurally normal heart, a differential cyanosis may be associated with persistent pulmonary hypertension of the new-born. In the cases of TGA with coarctation of the aorta or aortic arch interruption, the upper body is mostly supplied by systemic venous blood via the RA, RV, and ascending aorta, whereas the lower body is supplied by highly oxygenated pulmonary venous blood via the LA, LV, MPA, and then the PDA. For accurate detection of differential cyanosis, oxygen saturation should be measured in both preductal (right finger) and post ductal (feet) parts of the body.

Congenital heart defects are common (40-50%)| they are frequently observed in patients with Down syndrome who are hospitalized (62%) and are a common cause of death in this aneuploidy in the first 2 years of life.The most common congenital heart defects are the following:- Endocardial cushion defect (43%), which results in atrioventricular septal defect (AVSD)/AV canal defect- Ventricular septal defect (32%)- Secundum atrial septal defect (10%)- Tetralogy of Fallot (6%)- Isolated patent ductus arteriosus (4%).About 30% of patients have more than one cardiac defect. The most common secondary lesions are patent ductus arteriosus (16%), atrial septal defect, and pulmonic stenosis (9%). About 70% of all endocardial cushion defects are associated with Down syndrome.Valve abnormalities, such as mitral valve prolapse or aortic regurgitation may develop in up to 40-50% of adolescents and adults who were born without structural heart disease.

Due to its cholestatic properties, Flucloxacillin can block bile flow through the liver, leading to the accumulation of bilirubin in the blood, giving rise to jaundice. Dark urine is the result of excessive bilirubin in the blood being filtered by the kidney. As the bile doesn’t move into the small intestine, stools are pale.

The CSF picture in bacterial meningitis has the following characteristics: several polymorphs, cells, protein that is maximum 5g/l, a few lymphocytes and glucose that accounts for the two thirds of the blood level.

The clinical scenario presented is highly suggestive of vitamin C deficiency (Scurvy).Vitamin C is found in citrus fruits, tomatoes, potatoes, Brussel sprouts, cauliflower, broccoli, cabbage and spinach. Deficiency leads to impaired collagen synthesis and disordered connective tissue. Scurvy is associated with severe malnutrition as well as drug and alcohol abuse, and those living in poverty with limited access to fruits and vegetables.Symptoms and signs include:- Follicular hyperkeratosis and perifollicular haemorrhage- Ecchymosis- Gingivitis with bleeding and receding gums- Sjogren’s syndrome- Arthralgia- Oedema- Impaired wound healing- Generalised symptoms such as weakness, malaise, anorexia and depression

Most infants have a good heart rate after birth and establish breathing by about 90 s. If the infant is not breathing adequately aerate the lungs by giving 5 inflation breaths, preferably using air. Until now the infant’s lungs will have been filled with fluid.

Croup is the most common aetiology for hoarseness, cough, and onset of acute stridor in febrile children. Symptoms of coryza may be absent, mild, or marked. The vast majority of children with croup recover without consequences or sequelae.

Psoriasis is an autoimmune dermatological condition that causes cells of the epidermal layer to rapidly develop, leading to itchy scaly plaques. Phototherapy with UV radiation has emerged as a new treatment for difficult to treat psoriasis. The therapy works by inducing epidermal cell apoptosis by DNA damage through the formation of pyrimidine dimerization, disrupting the cell cycle. This slows the rapid proliferation of cells.

The right testicular vein is a tributary of the inferior vena cava, while the left testicular vein drains into the left renal vein.Note:The testicular venous drainage begins in the septa and these veins together with those of the tunica vasculosa converge on the posterior border of the testis as the pampiniform plexus. The pampiniform plexus, in turn, drains to the testicular vein.

Nonspecific triggers of inflammation in patients with atopic dermatitis may include physical or chemical irritants. The following simple measures should be followed in daily life to reduce the frequency and severity of irritant-induced atopic dermatitis flares :Skin care products that contain alcohol and astringents should be avoided.New clothes should be laundered before use to remove formaldehyde and other chemicals.Liquid detergents are preferred over powder detergents for laundering clothes, as liquids are easier to rinse out. A second rinse cycle may also improve removal of residual detergent.Patients should shower immediately after swimming in chlorinated pools and should subsequently apply moisturizer.Fragrance-free skin products that are hypoallergenic or made for sensitive skin may be less irritating than other kinds of skin products.Prenatal and postnatal probiotic supplementation may be helpful in preventing the development of atopic dermatitis in young children. In a 2008 meta-analysis, the most commonly studied probiotic was Lactobacillus rhamnoses GG. Larger, randomized controlled studies are needed to confirm these initial findings.Breastfeeding during the first 4 months of life may reduce the incidence and severity of childhood atopic disease but only modestly and only in those at high risk.

A peripheral blood film in iron deficiency anaemia can reveal the following morphologically variant RBCs:- Microcytic cells- Hypochromic cells- Pencil cells- Target cellsOther options:- Schistocytes can be caused by mechanical heart valves. – Rouleaux can be seen in chronic liver disease and malignant lymphoma. – Tear-drop poikilocytes can be seen in myelofibrosis. – Acanthocytes can be seen in liver disease and McLeod blood group phenotype.Pathological red cell forms include:- Target cells: Sickle-cell/thalassaemia, iron-deficiency anaemia, hyposplenism, and liver disease.- Tear-drop poikilocytes: Myelofibrosis- Spherocytes: Hereditary spherocytosis and autoimmune haemolytic anaemia- Basophilic stippling: Lead poisoning, thalassaemia, sideroblastic anaemia, and myelodysplasia- Howell-Jolly bodies: Hyposplenism- Heinz bodies: G6PD deficiency and alpha-thalassaemiaSchistocytes (‘helmet cells’): Intravascular haemolysis, mechanical heart valve, and disseminated intravascular coagulation- Pencil poikilocytes: Iron deficiency anaemia- Burr cells (echinocytes): Uraemia and pyruvate kinase deficiency – Acanthocytes: Abetalipoproteinemia

Clotrimazole interferes with the ergosterol biosynthesis by decreasing ergosteron I biosynthesis, increasing membrane permeability, and disrupting membrane-bound enzyme systems.Vaginal candidiasis is an extremely common condition. Predisposing factors include:- diabetes mellitus- drugs: antibiotics, steroids- pregnancy- immunosuppression – iatrogenic

Human breast milk composition changes with the progressive age of the infant. Breastmilk produced for a preterm baby often has a higher caloric content than breastmilk for a term baby. After the production of colostrum in the first days of life, the milk continues to mature. by week 4-6 milk can be considered fully mature. The average calories found in mature breastmilk are about 70kcal/100ml

Based on the clinical scenario provided, the most probable nerve injured in this patient would be the trochlear nerve. The trochlear nerve has a relatively long intracranial course, and this makes it vulnerable to injury in head trauma. Head trauma is the most frequent cause of acute fourth nerve palsy. A 4th nerve palsy is the most common cause of vertical diplopia. The diplopia is at its worst when the eye looks medially which it usually does as part of the accommodation reflex when walking downstairs.

Ventilatory rates of 40-60 breaths/min should be provided initially, with proportionally fewer assisted breaths provided if the infant’s spontaneous respiratory efforts increase. Although this practice has not been extensively studied, initial inflation of the new-born’s lungs with either slow-rise or square-wave inflation to a pressure of 30-40 cm H2 O for approximately 5 seconds has been reported to result in more rapid formation of Functional Residual Capacity (FRC).At the moment of delivery and first breath, the neonatal lung is converting from a fetal non-aerated status to a neonatal status. The neonatal lung requires gas exchange, and this necessitates the development of FRC with the resorption of lung fluid and the resolution of most of the atelectasis. Therefore, initial slow ventilation with more prolonged inspiratory times may be useful to assist in this task, balanced against the need to avoid inappropriate inspiratory pressures.Flow-controlled, pressure-limited mechanical devices are acceptable for delivering PPV. These mechanical devices control flow and limit pressure and be more consistent than bags. Self-inflating and flow-inflating bags remain a standard of care. Laryngeal mask airways are effective for assisted ventilation when bag-mask ventilation and intubation are unsuccessful.

People aged 16 or over are entitled to consent to their own treatment. This can only be overruled in exceptional circumstances. Children under the age of 16 can consent to their own treatment if they’re believed to have enough intelligence, competence and understanding to fully appreciate what’s involved in their treatment. This is known as being Gillick competent.Otherwise, someone with parental responsibility can consent for them.This could be:the child’s mother or fatherthe child’s legally appointed guardiana person with a residence order concerning the childa local authority designated to care for the childa local authority or person with an emergency protection order for the child.Giving the blood transfusion is therefore both clinically and ethically the right course of action.Jehovah’s Witnesses frequently carry a signed and witnessed Advance Decision Document listing the blood products and autologous procedures that are, or are not, acceptable to them It is appropriate to have a frank, confidential discussion with the patient about the potential risks of their decision and the possible alternatives to transfusion, but the freely expressed wish of a competent adult must always be respected.

Haemophilia B (also known as Christmas disease) is due to a deficiency in factor IX. Haemophilia A is due to a deficiency in factor VIII.

Presentation can vary by individual. Early stages are often characterized by malaise, fatigue, and lethargy. One to 3 months of inadequate intake can lead to anaemia, myalgia, bone pain, easy bruising (Figure 3), swelling, petechiae, perifollicular haemorrhages, corkscrew hairs, gum disease, poor wound healing, mood changes, and depression. Perifollicular haemorrhages and easy bruising are often first seen in the lower extremities, as capillary fragility leads to an inability to withstand hydrostatic pressure. Late stages of scurvy are more severe and life threatening| common manifestations include generalized oedema, severe jaundice, haemolysis, acute spontaneous bleeding, neuropathy, fever, convulsions, and death.

A consultation with an ENT is required to establish the reason for the child’s drooling and stridor indicating and obstructive process. Enlarged tonsils and adenoids should be checked.

The withdrawal and withholding of care has been reported in neonatology for over 30 years. ‘Withdrawal’ of life-saving treatment implies the elective discontinuation of ongoing life-supportive measures. ‘Withholding’ of treatment occurs when interventions necessary for immediate survival, such as surgical intervention or resuscitation (bag and mask/endotracheal ventilation, cardiac massage or adrenaline) are deliberately not administered.Withdrawal of treatment most commonly takes the form of withdrawing of ventilatory support. In the extremely premature neonate who has had poor response to bag and mask ventilation, this may mean stopping ventilation breaths, explaining to the parents the reason for discontinuation and offering comfort care according to the parents’ wishes. Parents should be prepared for the sequelae that may follow withdrawal from mechanical ventilation. The infant may become agitated secondary to hypoxia, display terminal gasping and, depending on the size and gestation of their infant, tachypnoea, intercostal recession or stridor may be evident. Parents may want to be involved in the extubation process. Following ventilator withdrawal, the length of time prior to death cannot be predicted and can be a significant cause of parental anguish if this is not explained. A side room and privacy should be made available for the family. NICE guidance suggests that women ‘should not be encouraged to hold their dead baby if they do not wish to’, although this is very much dependent on individuals.

Pupils are dilated in patients with amitriptyline overdose.Tricyclic antidepressants have a narrow therapeutic index, and thus, small doses can be fatal in children. Deaths from tricyclics are more common than other antidepressants. Bimodal incidence with toddlers (accidental) and teenagers (deliberate) most commonly affected.Symptoms: They occur within 6 hours of ingestion.- Nausea, vomiting, and headache- Elevated body temperature- Agitation, sleepiness, confusion, coma- Dry mouth, blurred vision, urinary retention (anticholinergic)- Dilated pupils- Seizures- Hypotension, tachycardia, conduction disorders, and cardiac arrest- Respiratory depressionManagement:Treatment focuses on supportive care. This includes airway protection, ventilation and oxygenation, intravenous fluids, and cardiac monitoring.Other measures include:- Activated charcoal within 2 hours- Hypotension is treated with IV fluids and adrenaline- Cardiac monitoring- Sodium bicarbonate in acidosis or if there are wide QRS complex (> 100 ms)- Convulsions may require diazepam or lorazepam.

Duchenne muscular dystrophy has an X-linked recessive pattern of inheritance. Since the first son is affected by the disease, it means that the mother is a carrier. The male children will inherit the Y chromosome from their father and the X chromosome from their mother, having 50% chances of inheriting the X chromosome with the affected gene.

Celiac disease is classified as a Type IV hypersensitivity mediated by T-cell response. Negatively charged gliadin has been shown to induce interleukin 15 in the enteric epithelial cells, stimulating the proliferation of the natural killer cells and intraepithelial lymphocytes to express NK-G2D, a marker for natural killer T lymphocytes.

Biliary atresia is a rare condition that causes obstructive jaundice. Without surgical treatment, e.g. Roux-en-Y, Kasai procedure or liver transplantation, death is likely by 2 years of age. The aetiology of biliary atresia is unknown. Theories suggest a multitude of etiological and causative factors that are both genetic and acquired.The other conditions do not cause a conjugated hyperbilirubinemia.

According to the Rumack-Matthew Normogram, accurate levels of paracetamol can be measured only between 4-15 hours. The levels measured before 4 hours post-ingestion would highly underestimate the level of paracetamol ingested.The patient in question presents 2 hours after ingestion. Hence the most appropriate time to measure the levels of acetaminophen would be a further 2 hours later. Other options:- Note that the treatment with NAC can be delayed until the 4-hour level is obtained and compared to the nomogram.- Furthermore, haemodialysis is only indicated if she develops hepato-renal syndrome that is likely to occur 72-96 hours post-ingestion.- Indications for acute liver transplantation include persistent acidosis, hepatorenal syndrome and worsening coagulopathy.

A micturating cystourethrogram (MCUG) is one type of imaging test also called a voiding cystourethrogram (VCUG). The MCUG can check whether the flow of urine from the child’s bladder is being blocked, or whether it goes up the wrong way. It can help diagnose certain conditions, including vesicoureteral reflux and posterior urethral valves.

Syphilis is an infectious venereal disease caused by the spirochete Treponema pallidum. Syphilis is transmissible by sexual contact with infectious lesions, from mother to foetus in utero, via blood product transfusion, and occasionally through breaks in the skin that come into contact with infectious lesions. If untreated, it progresses through 4 stages: primary, secondary, latent, and tertiary.

Thyroglossal cyst is the most common congenital thyroid anomaly which is clinically significant and affects women more than men. It is a vestigial remnant of developing thyroid. Although the thyroglossal cyst can develop anywhere along the thyroglossal duct, the most common site is in the midline between the isthmus of thyroid and hyoid bone, or just above the hyoid. Thyroglossal cysts are also associated with ectopic thyroid tissue. Clinically, the cyst moves upward with protrusion of the tongue. Rarely, the persistent duct can become malignant (thyroglossal duct carcinoma) where the cancerous cells arise in the ectopic thyroid tissue that are deposited along the duct. Exposure to radiation is a predisposing factor.

In the case of anterior nasal bleeds, when the bleeding point is clearly visualised the best management step is cautery, either electrical or chemical.

A case–control study (also known as case–referent study) is a type of observational study in which two existing groups differing in outcome are identified and compared on the basis of some supposed causal attribute. Case–control studies are often used to identify factors that may contribute to a medical condition by comparing subjects who have that condition/disease (the cases) with patients who do not have the condition/disease but are otherwise similar (the controls).
An odds ratio (OR) is a statistic that quantifies the strength of the association between two events, A and B. The odds ratio is defined as the ratio of the odds of A in the presence of B and the odds of A in the absence of B or vice versa.

Hematopoietic stem cells (HSCs) are a rare population of cells residing in the bone marrow (BM) and continuously replenish all mature blood cells throughout their life span.

To get more information regarding hearing loss, a physician should perform both Rinne and Weber tests. Weber test alone cannot tell which side is affected.Rinne test – a vibrating tuning fork (typically 512 Hz) is placed initially on the mastoid process behind each ear until sound is no longer heard. Then, without re-striking the fork, the fork is then quickly placed just outside the ear with the patient asked to report when the sound caused by the vibration is no longer heard. A normal or positive Rinne test is when sound is still heard when the tuning fork is moved to air near the ear (air conduction or AC), indicating that AC is equal or greater than (bone conduction or BC).Weber’s test – tuning fork is placed in the middle of the forehead equidistant from the patient’s ears. The patient is then asked which side is loudest. In unilateral sensorineural deafness, sound is localised to the unaffected side however in unilateral conductive deafness, sound is localised to the affected side.

Mumps presents with a prodromal phase of general malaise and fever. On examination there is usually painful parotid swelling which has high chances of becoming bilateral. In OM with effusion there are no signs of infection and the only symptom is usually hearing loss. Acute otitis externa produces otalgia as well as ear discharge and itching. Acute OM produces otalgia and specific findings upon otoscopy. In acute mastoiditis the patient experiences ear discharge, otalgia, headache, hearing loss and other general signs of inflammation.

Fanconi tubular syndrome is characterised by malabsorption of various electrolytes and substances commonly absorbed by the proximal tubule. Hypokalaemia, hypophosphatemia, and hyperchloremic metabolic acidosis is usually present. Also, urinalysis reveals an increased fractional excretion of glucose.

Breath-holding spells are usually caused by either a change in the child’s breathing or a slowing of the heart rate. In some children, breath-holding spells may be related to iron deficiency anaemia, a condition in which the body doesn’t produce a normal number of red blood cells. Conclusion: Not only Iron deficiency anaemia but also iron deficiency alone without anaemia is associated with a risk of high-frequency cyanotic breath holding spells. Iron therapy results in reduction in spells’ frequency which was correlated with increasing ferritin and iron levels.

Congenital LQTS arises from mutations in genes that code for ion channels within myocytes.These mutations all cause ventricular action potentials to be prolonged, resulting in a lengthened QT interval on ECG. The congenital long-QT syndrome (LQTS) is a life-threatening cardiac arrhythmia syndrome that represents a leading cause of sudden death in the young. LQTS is typically characterized by a prolongation of the QT interval on the ECG and by the occurrence of syncope or cardiac arrest, mainly precipitated by emotional or physical stress.LQTS type 1Most common type of congenital LQTSDefect: loss of function mutation on the KCNQ1 gene located on chromosome 11p → defective slow delayed rectifier voltage-gated potassium channelSubtypesJervell and Lange-Nielsen syndrome Associated with congenital deafnessAutosomal recessiveAssociated with ventricular tachyarrhythmiasRomano-Ward syndrome No associated deafnessAutosomal dominantAssociated with ventricular tachyarrhythmias

The main cause of growth hormone (GH) deficiency is a pituitary tumour or the consequences of treatment of the tumour including surgery and/or radiation therapy.Sheehan’s syndrome (SS) is postpartum hypopituitarism caused by necrosis of the pituitary gland. It is usually the result of severe hypotension or shock caused by massive haemorrhage during or after delivery. Patients with SS have varying degrees of anterior pituitary hormone deficiency.Laron syndrome is Insulin-like growth factor I (IGF-I) deficiency due to GH resistance or insensitivity due to genetic disorders of the GH receptor causing GH receptor deficiency.

Myelomeningocele is the most common type of open neural tube defect and a serious central nervous system disorder associated with significant morbidity. It is also called open spina bifida since the dura, and arachnoid matter herniates through the defect in the vertebral column. The commonest association is the decreased folate levels during early pregnancy. The alpha-fetoprotein levels are raised in the amniotic fluid. CSF leak is a common presentation with associated macrocephaly and hydrocephaly. Prenatal surgical repair is linked to a better prognosis.

Linear regression is a basic and commonly used type of predictive analysis. The overall idea of regression is to examine two things: (1) do a set of predictor variables do a good job in predicting an outcome (dependent) variable? (2) Which variables, in particular, are significant predictors of the outcome variable, and in what way do they–indicated by the magnitude and sign of the beta estimates–impact the outcome variable.These regression estimates are used to explain the relationship between one dependent variable and one or more independent variables. Three major uses for regression analysis are (1) determining the strength of predictors, (2) forecasting an effect, and (3) trend forecasting

Alopecia is a scalp condition characterized by either overall baldness or patches of hair loss over the head. It can be broadly classified as scarring alopecia and non-scarring alopecia. Non-scarring is the most common type and is seen in various conditions like nutritional deficiencies, alopecia areata, hypothyroidism, tinea capitis, and SLE. Scarring alopecia is commonly seen in cases of discoid lupus erythematosus, which is a common cause of widespread inflammatory and scarring lesions all over the body and scalp.

Cardiac notch: is an indentation on the left lung of the heart.
Coronary sinus: a venous sinus on the surface of the heart (the posterior aspect) that receives blood from the smaller veins that drain the heart.
Coronary sulcus: a groove on the heart between the atria and ventricles.
Transverse pericardial sinus: located behind the aorta and pulmonary trunk and anterior to the superior vena cava.
Oblique pericardial sinus: located behind the left atrium. Accessed from the inferior side (or the apex) of the heart upwards.
Horizontal pericardial sinus: this is a made-up term.

Metformin works by improving the sensitivity of peripheral tissues to insulin, which results in a reduction of circulating insulin levels. Metformin inhibits hepatic gluconeogenesis and it also increases the glucose uptake by peripheral tissues and reduces fatty acid oxidation. Metformin has a positive effect on the endothelium and adipose tissue independent of its action on insulin and glucose levels.Metformin was the first insulin sensitising drug (ISD) to be used in PCOS to investigate the role of insulin resistance in the pathogenesis of the syndrome Several effects have been reported as related to metformin in PCOS patients including restoring ovulation, reducing weight, reducing circulating androgen levels, reducing the risk of miscarriage and reducing the risk of gestational diabetes mellitus (GDM). Other studies have reported that the addition of metformin to the ovarian stimulation regime in invitro fertilization (IVF) improves the pregnancy outcome. These effects will be addressed individually.

The percentages of body water contained in various fluid compartments add up to total body water (TBW). This water makes up a significant fraction of the human body, both by weight and by volume. Ensuring the right amount of body water is part of fluid balance, an aspect of homeostasis. The extracellular fluid (ECF) includes all fluids outside the cells. This fluid can be divided into three fluid departments: interstitial (in the tissue spaces) fluid, blood plasma and lymph, and specialised compartments called transcellular fluid. The extracellular fluid surrounds all the cells in the body and is in equilibrium with the intracellular fluid. So, its composition must remain fairly constant even though substances are passing into and out of the cells. The interstitial fluid, though called a fluid, is in a reality a gel-like composition made up of: water, proteoglycan molecules and collagen. The extracellular fluid constitutes 40% of total body water, with intracellular fluid making up the remaining 60%. It is relatively rich in glucose.

The patient’s clinical presentation is highly suggestive of Charcot–Marie–Tooth syndrome.It is a hereditary sensory and motor neuropathy. It is also the commonest cause of inherited peripheral neuropathy. The lower motor neuron signs are usually mild in childhood, the age of onset is very variable, and the distal weakness can take years to progress. It is not fatal and does not affect the normal life expectancy.

Developmental dysplasia (DDH) of the hip refers to patients who are born with a dislocated or unstable hip due to abnormal development of the hip. Female infants and first born infants are most likely to present with DDH. Other risk factors for DDH include, breech positioning, oligohydramnios, high birth weight or post date babies.

Answer: Do not operate and review the patient several weeks laterAir weapon injuries in children should be managed in the same way as any low velocity gun shot injury. Subcutaneous pellets are best removed. Urgent specialist referral is indicated for cranial, ocular, chest, abdominal, or vascular injuries as they may require emergency surgery. Cardiac injuries may be rapidly fatal. Penetrating abdominal injuries involving hollow viscera or major blood vessels need prompt exploration and repair. Intracranial air weapon pellets should be removed if possible. A pellet in lung parenchyma or muscle may be safely left in situ but there is a risk of infection. A pellet that has penetrated a joint or is associated with a fracture requires skilled orthopaedic management. A pellet lodged near a major blood vessel or nerve should ideally be removed. The possibility of intravascular embolism must be considered if the pellet is absent from a suspected entry site and there is no exit wound| numerous examples of arterial and venous embolism of an air weapon pellet in children have been described.In this case, the child seems well so there is no need to operate. He should be reviewed several weeks later.

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disease. The Lisch nodule represents one of the most common NF1 ocular manifestations.NF1 is caused by a genetic mutation which can cause tumours to grow on nerve endings| these cutaneous neurofibromas are benign tumours which grow on the skin, often first appearing during the hormonal changes that occur in teenage years. They vary in size and can appear anywhere on the body. The number of neurofibromas present differs greatly between individuals and over a lifetime Café au lait spots (coffee coloured birthmarks) are often the first and most common sign of NF1, and these are often found at birth and are usually evident by 2 years of age.Other features of NF1 can include Lisch nodules of the iris (small pigmentation in the iris which causes no disturbance to vision), skin-fold freckling (freckling/pigmentation in the groyne and armpits), plexiform neurofibromas (or sub cutaneous neurofibromas) which are diffuse tumours that grow along a nerve and are found in at least 25 % of people with NF1, optic gliomas (tumour of the optic nerve), and skeletal complications including pseudarthrosis and scoliosis. Macrocephaly (large head size) is also common, and short stature is found in around a third of people with NF1. Rare complications include a risk of malignancy, organs being compromised by neurofibromas, seizures, and hypertension.

Benign neonatal sleep myoclonus is a condition characterised by neonatal onset myoclonic jerks during NREM. Characteristic for this disorder is the absence of electroencephalographic findings.

The median nerve is a peripheral nerve originating in the cervical roots C5–T1 of the brachial plexus. It supplies motor innervation to the anterior forearm flexors, the thenar muscles, and the two lateral lumbricals as well as sensory innervation to the lateral palm and anterior, lateral three and a half fingers. Motor and sensory deficits depend on whether the lesion is proximal (above the elbow) or distal (below the elbow). While proximal lesions present with the “hand of benediction,” distal lesions present with either the “pinch sign” (anterior interosseous nerve syndrome) or, in the case of carpal tunnel syndrome, with mildly impaired thumb and index finger motion. Both proximal lesions and carpal tunnel syndrome result in reduced sensation in the area of the thumb, index and middle finger. Anterior interosseus nerve syndrome does not cause any sensory deficits. Chronic injuries to the nerve result in atrophy of median nerve innervated muscles while acute injuries do not have this feature. Treatment is mostly conservative and focuses on rest and immobilization.

Minimal change disease is a type of glomerulonephritis that mostly affects younger children. Proteinuria is present which leads to body oedema. But in these patients blood pressure is normal.

CF is inherited in an autosomal recessive manner.This means that to have CF, a person must have a mutation in both copies of the CFTR gene in each cell. People with CF inherit one mutated copy of the gene from each parent, who is referred to as a carrier.CF carriers can pass their copy of the CFTR gene mutation to their children. Each time two CF carriers have a child together, the chances are: 25 percent (1 in 4) the child will have CF50 percent (1 in 2) the child will be a carrier but will not have CF25 percent (1 in 4) the child will not be a carrier of the gene and will not have CFThis male’s parents are obligate carrier because he has a sibling with CFSo the chances he is a carrier too are 2 in 3The risk of having an affected child is the chance of both himself and his partner being carriers: (2/3 × 1/25 = 2/75) × 1/4 = 1/150.

Itchy skin conditions include:Allergy & anaphylaxisAthletes footAtopic dermatitisContact dermatitisDrug allergyErythema multiformeFolliculitisImpetigoInsect bites, stings, infestationsKawasaki diseaseLichen planusNummular eczemaPityriasis roseaPsoriasisScabiesTinea corporisToxic epidermal necrolysisUrticariaVaricellaViral exanthemNote: Miliaria rubra is itchy, miliaria profunda usually isn’t.

Based on the presentation, the child most probably is suffering from a refractive error.Astigmatism, myopia and high hypermetropia could all cause these symptoms. This child has difficulty in using vision for finer tasks such as reading. Mild to moderate refractive error would not impair the child’s ability to play or even watch television as for the child in question. Note: Refractive error is the most common treatable cause of reduced vision in children all over the world! Other options:- A congenital cataract is rare and retinal dystrophy is even rarer. – Amblyopia would suggest poor vision in only one eye, something that might not cause symptoms in this age group. – Parents or teachers would have probably noticed squint if it was present.

Heart murmurs are common in healthy infants, children, and adolescents. Although most are not pathologic, a murmur may be the sole manifestation of serious heart disease. Historical elements that suggest pathology include family history of sudden cardiac death or congenital heart disease, in utero exposure to certain medications or alcohol, maternal diabetes mellitus, history of rheumatic fever or Kawasaki disease, and certain genetic disorders. Physical examination should focus on vital signs| age-appropriate exercise capacity| respiratory or gastrointestinal manifestations of congestive heart failure| and a thorough cardiovascular examination, including features of the murmur, assessment of peripheral perfusion, and auscultation over the heart valves. Red flags that increase the likelihood of a pathologic murmur include a holosystolic or diastolic murmur, grade 3 or higher murmur, harsh quality, an abnormal S2, maximal murmur intensity at the upper left sternal border, a systolic click, or increased intensity when the patient stands. Electrocardiography and chest radiography rarely assist in the diagnosis.