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.

Bulimia nervosa is an eating disorder that involves frequent episodes of binge eating followed by inappropriate purging behaviour. The underlying reason for this behaviour is distorted self-image. Bulimia leads to several medical issues, including various laboratory derangements. Among these deranged laboratory parameters are the hormone cholecystokinin, which is found to be decreased in women having bulimia. It is hypothesized that the bingeing episodes observed in patients with bulimia are due to lower levels of CCK since normal levels of CCK are involved in maintaining satiety and controlling the urge to binge eat.

Cluster headaches present with unilateral severe headache that may be associated with ipsilateral cranial autonomic symptoms including| lacrimation, rhinorrhoea, ophthalmic injection, and occasionally, Horner syndrome (ipsilateral miosis, ptosis, and facial anhidrosis).

Answer: RicketsRickets is a disease of growing bone that is unique to children and adolescents. It is caused by a failure of osteoid to calcify in a growing person. The signs and symptoms of rickets can include:pain – the bones affected by rickets can be sore and painful, so the child may be reluctant to walk or may tire easily| the child’s walk may look different (waddling)skeletal deformities – thickening of the ankles, wrists and knees, bowed legs, soft skull bones and, rarely, bending of the spinedental problems – including weak tooth enamel, delay in teeth coming through and increased risk of cavitiespoor growth and development – if the skeleton doesn’t grow and develop properly, the child will be shorter than averagefragile bones – in severe cases, the bones become weaker and more prone to fractures.Marfan syndrome (MFS) is a genetic disorder of the connective tissue. The degree to which people are affected varies. People with Marfan tend to be tall and thin, with long arms, legs, fingers and toes. They also typically have flexible joints and scoliosis. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. Other commonly affected areas include the lungs, eyes, bones and the covering of the spinal cord.Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. People who have Ehlers-Danlos syndrome usually have overly flexible joints and stretchy, fragile skin. This can become a problem if you have a wound that requires stitches, because the skin often isn’t strong enough to hold them.A more severe form of the disorder, called Ehlers-Danlos syndrome, vascular type, can cause the walls of your blood vessels, intestines or uterus to rupture. Osteoporosis is a disease in which bone weakening increases the risk of a broken bone. It is the most common reason for a broken bone among the elderly. Bones that commonly break include the vertebrae in the spine, the bones of the forearm, and the hip. Until a broken bone occurs there are typically no symptoms. Bones may weaken to such a degree that a break may occur with minor stress or spontaneously. Chronic pain and a decreased ability to carry out normal activities may occur following a broken bone.Osteoporosis may be due to lower-than-normal maximum bone mass and greater-than-normal bone loss. Bone loss increases after menopause due to lower levels of oestrogen. Osteoporosis may also occur due to a number of diseases or treatments, including alcoholism, anorexia, hyperthyroidism, kidney disease, and surgical removal of the ovaries.

Based on the given scenario, the most probable diagnosis for this patient is acquired immune deficiency syndrome (AIDS) caused by human immunodeficiency virus (HIV). Thus, the most appropriate investigation to confirm the underlying pathology in this patient would be viral serology. Rationale:The presence of oesophageal candidiasis is highly suggestive of severe immunosuppression. The causes of immunosuppression can be chemotherapy, with haematological malignancy, HIV or inhaled steroids. In patients with HIV, oesophageal candidiasis is part of the spectrum of AIDS-defining illnesses and usually occurs when the CD4 count is < 200 cells/microL. Other AIDS-defining illnesses include PCP pneumonia and CMV infections.Oesophageal Candidiasis:It is characterised by white spots in the oropharynx with extension into the oesophagus. It seldom occurs without an associated underlying risk factor like broad-spectrum antibiotic usage, immunosuppression and immunological disorders.Patients may present with oropharyngeal symptoms, odynophagia and dysphagia.Treatment is directed both at the underlying cause (which should be investigated for) and with oral antifungal agents.

Among the provided options, we would expect a normally developing six-month-old child to have lost Moro’s reflex.Note:The Moro reflex is present from birth and persists until 4 months of age. It is abnormal for the Moro reflex to persist much beyond this stage, and if it does, cerebral palsy should be considered.A normal 6-month old baby should be able to roll over from front to back, readily follow objects with their eyes, transfer objects from hand to hand, recognise parental voices and babble and laugh.Other options:- Having a pincer grip is more typical of a 9-12-month-old.- Although at 6 months babies are often able to sit briefly or with support, sitting steadily is typically seen at 9 months.- Starting to stand with support is more typical of a 9-12-month-old.- Waving bye-bye is more typical of a 9-12-month-old.

Patients with breast cancer develop clinical symptoms rather late at advanced tumour stages. Typical signs may include:Changes in breast size and/or shape| asymmetric breastsPalpable mass: typically a single, nontender, firm mass with poorly defined margins, most commonly in the upper outer quadrantSkin changes: Retractions or dimpling (due to tightening of the Cooper ligaments), Peau d’orange: skin resembling an orange peel (due to obstruction of the lymphatic channels): Redness, oedema, and pitting of the hair folliclesNipple changes: inversion, blood-tinged dischargeAxillary lymphadenopathy: firm, enlarged lymph nodes (> 1 cm in size), that are fixed to the skin or surrounding tissueIn advanced stages: ulcerations

Cortisol is secreted in a circadian pattern.The secretion of cortisol is regulated by the suprachiasmatic nucleus located in the hypothalamus.Other options:- FSH, LH, GH and prolactin are secreted in a pulsatile pattern, i.e. these hormones are secreted in an episodic manner rather than continuously.- Thyroxine is secreted in a continuous pattern, not pulsatile.- The secretion of ACTH is in response to stress.Secondary to stress, the hypothalamus secretes corticotrophin releasing hormones, which are transported to the pituitary gland via the hypophyseal–portal system. ACTH is then released by the pituitary gland and binds to its receptor on the adrenal gland, which releases cortisol.

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.

Prader-Willi Syndrome is a genetic disorder that occurs when a chromosome from paternal chromosome 15q is deleted or unexpressed during the formation of the egg or sperm, or in embryonic development. Individuals usually inherit one copy of this gene from each parent, and in this case on the paternal gene remains active in parts of the brain and other organs. This phenomenon is known as genetic imprinting, and is also seen in Angelman’s syndrome. Symptoms seen in Prader-Willi range from poor muscle tone during infancy to developmental and cognitive delays. Many individuals suffer from hypogonadism that affects fertility in both males and females. In Angelman’s syndrome the maternal chromosome 15q is unexpressed. The condition is also called happy puppet syndrome as affected children present with a happy demeanour, ataxic gait, and flapping movements of the limbs.

The sign being elicited in this patient is Nikolsky’s sign. Based on the findings, the patient is suffering from toxic epidermal necrolysis.Nikolskys sign: Rubbing the skin causes exfoliation of the outer layer and usually blistering within a few minutes. Other options:- Cullen’s sign: Periumbilical bruising due to intra-abdominal haemorrhage. If the discolouration is seen in the flanks, it is called Cullen’s sign. Underlying pathology includes ruptured ectopic pregnancy and haemorrhagic pancreatitis. – Forscheimer’s sign: It is a fleeting exanthem that is seen as small, red spots (petechiae) on the soft palate. Associated with rubella and glandular fever. Gorlin’s sign: It is the ability to touch the tip of the nose with the tongue. Increased incidence in children with connective tissue disorder, e.g. Ehler Danlos syndrome. – Auspitzs sign: These are small bleeding points are left behind when psoriatic scales are lifted off. It is not a very sensitive or specific sign. Other cutaneous signs include:- Hair collar sign: It is a collar of hypertrichosis around an area of cranial dysraphism.- Hertoghe’s sign (Queen Anne’s sign): It is the loss of lateral one-third of eye-brows. It is associated with numerous conditions, including lupus, HIV, and hypothyroidism. – Dariers sign: It is the swelling, itching and erythema that occurs after stroking skin lesions of a patient with systemic mastocytosis or urticarial pigmentosa. – Dermatographism: Rubbing the skin causes a raised, urticarial lesion. – Koebners phenomenon: It is the appearance of new skin lesions in areas of trauma.- Breakfast, lunch, and dinner sign: Linear pathway of a group of three to five papules caused by the common bed bug, Cimex lectularius. – Buttonhole sign: In type 1 neurofibromatosis, neurofibromas can be invaginated with the finger back into the subcutis. The nodule will reappear after the release of pressure. The sign is also positive for dermatofibromas. – Crowe’s sign: Axillary freckling seen in type I neurofibromatosis.

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

Maternal smoking is one of the most significant risk factors for pyloric stenosis.Remember the three Ps for Pyloric Stenosis:P – palpable massP – peristalsisP – projectile vomiting

Hyperthyroidism is the least likely cause of cataract development as all of the other mentioned options can lead to eye problems. Asthma and crohn’s can lead to steroid induced cataract formation, while trauma to the eye can cause traumatic cataracts to develop afterwards. JIA often leads to uveitis.

Koebner’s phenomenon describes skin lesions that occur on damaged skin, usually in a linear fashion at the site of injury. Conditions which exhibit true Koebnerisation include psoriasis, lichen planus, lichen sclerosis, vitiligo, Kaposi sarcoma and SLE. Conditions such as erythema nodosum or multiforme, or Lyme disease and Impetigo do not exhibit Koebner’s phenomenon.

In a child with an age of 12 months – pincer grasp should be well developed. It is essential to have a good grasp of important milestones. Most 12-month-old children will be mobile, by standing holding onto a support, lifting one foot and moving it sideways (‘cruising’ around the furniture). They will demonstrate a neat pincer grasp, e.g. picking up a raisin or piece of paper between the tip of the index finger and the thumb. Words (or meaningful word-like utterances) are produced, but words are not usually chosen and put together deliberately by a child until after the second birthday (typically around the age of 30 months). Word combinations used earlier than this are likely to be an echo of a learnt phrase which may be understood by the child to be one single word even though they are a combination of more than one word (e.g. daddy, home). Building a tower of three cubes and following a one-step command such as ‘take off your socks’, is expected at 18 months.

Answer: Inflammatory bowel diseaseThe inflammatory bowel diseases (IBDs), including ulcerative colitis and Crohn disease, are chronic inflammatory disorders of the gastrointestinal tract most often diagnosed in adolescence and young adulthood, with a rising incidence in paediatric populations. Inflammatory bowel disease is caused by a dysregulated mucosal immune response to the intestinal microflora in genetically predisposed hosts. Although children can present with the classic symptoms of weight loss, abdominal pain, and bloody diarrhoea, many present with nonclassical symptoms of isolated poor growth, anaemia, or other extraintestinal manifestations.Colorectal Carcinoma (CRC) is rare in patients less than 20 years of age.

Umbilical hernias are common in young children and they carry a low risk of incarceration as compared to inguinal hernias. About 90% umbilical hernias resolve by the age of 4 years. The best management for young children is to wait for resolution without surgical repair, unless there are complications. Parents should be assured that the child does not need to be referred to the general surgeon, nor should any home remedies such as taping a coin over the hernia be encouraged. If after the age of 4 it has not resolved, then surgery is indicated. This also applies to girls to prevent an unsightly hernia should she get pregnant.

Perforated appendices are common in children as it is more difficult to surgically assess an unwell child due to poor localisation of abdominal pain, and their inability to express discomfort. They are therefore prone to a greater risk of post operative complications including would infections, intra abdominal fluid collections, and chest infections. In the above scenario the spiking temperature points to an abscess, which characteristically presents with a swinging temperature. The fever is unlikely due to bacterial resistance as blood tests performed post surgery would have indicated any resistance, and a UTI is also unlikely since the child is already on antibiotics. As his chest is clinically clear, a severe chest infection may be ruled out, leaving intra-abdominal collection as the most likely explanation.

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.

The most probable diagnosis for the above clinical scenario, of a child presenting with motor and vocal tics for more than a year is highly suggestive of a diagnosis of Tourette syndrome. The symptoms often wax and wane, and although several different drugs are available, none are entirely useful, and side-effects are relatively common. With these considerations in mind, it is essential to try and avoid treatment initially as the tics can spontaneously improve with time. Informing the teacher and class about the nature of the condition and allowing the child ‘time out’ to tic might help to avoid the need for medication.

Klinefelter syndrome is a chromosomal disease that does not lead to congenital cataracts. A congenital cataract is the clouding of the cornea that is present from birth. Causes can be categorized as genetic, infectious, and metabolic. The most common infectious cause is congenital rubella syndrome. Galactosemia is a metabolic cause of congenital cataracts. Down’s syndrome represents a genetic cause of congenital cataract.

Advanced paternal age is associated with poor quality sperm leading to a reduction in overall fertility along with an increase in the occurrence of various medical disorders in the fetus. Advanced paternal age has been implicated as a risk factor for diseases like retinoblastoma, Marfan’s syndrome, neurofibromatosis, achondroplasia, autism spectrum disorders, schizophrenia, and acute lymphoblastic leukaemia. Down’s syndrome is mostly considered a consequence of advanced maternal age, but advanced paternal age has also been implicated as a risk factor. Turner syndrome is not found to be caused by advanced paternal age.

One of the features of pyloric stenosis is hypochloraemic, hypokalaemic metabolic alkalosis. In emergency settings, capillary blood gas is the easiest and fastest way to establish a sustainable suspicion of pyloric stenosis. However, all tests are useful for the diagnosis of the condition.

The signs and symptoms of vitamin D-dependent rickets begin within months after birth, and most are the same for all types of the condition. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop abnormally curved (bowed) legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the metaphysis, especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also common in this condition, and some affected individuals develop seizures.

The European Society of Human Reproduction and Embryology/American Society for Reproductive Medicine Rotterdam consensus (ESHRE/ASRM) developed and enlarged the diagnosis of PCOS, requiring two of three features: anovulation or oligo-ovulation, clinical and/or biochemical hyperandrogenism, and polycystic ovarian morphology (PCOM) seen on ultrasound. Finally the Androgen Excess Society defined PCOS as hyperandrogenism with ovarian dysfunction or polycystic ovaries

The most appropriate next step in the management would be to refer the patient for an ENT opinion. Rationale:This child has clinical signs of adenotonsillar hypertrophy, symptoms of persistent snoring and features of obstructive sleep apnoea (OSA). Suspected OSA warrants referral to an ENT specialist. Other options:- Capillary blood gas: The investigation consists of overnight oxygen saturation monitoring or polysomnography.- Chest X-ray: A chest x-ray is not indicated.- Phenoxymethylpenicillin (Penicillin V) is the first-line treatment for tonsillitis. However, with a history of several months and no suggestion of fever or sore throat, acute tonsillitis is unlikely.- Weight loss advice: Obesity is a risk factor for obstructive sleep apnoea (OSA) amongst other health problems. The child’s weight should be highlighted and advice and support for weight loss provided however referral to ENT is warranted for further investigation.

Vitamin A is a fat-soluble compound occurring in various forms. The RDA for 0-12 months old babies is 400-600micrograms/day. Most of the vitamin A is stored in the liver, making animal liver an excellent source of vitamin A. Vitamin A deficiency is characterized by the deposits of keratin in the conjunctiva, known as Bitot’s spots, keratomalacia, night blindness, and anaemia.Vitamin A toxicity or excess is characterized by hyperkeratosis, hypothyroidism, hypo/hyperpigmentation, etc.According to WHO guidelines, children under two years of age who develop measles should be given two additional doses of vitamin A supplementation 24 hours apart, which is necessary for preventing eye damage, blindness, and reducing mortality by 50%.

The clinical picture suggests that the child is severely dehydrated. IV fluid bolus then IV maintenance fluids is the correct option.

The thyroglossal duct cyst is the most common congenital anomaly of the central portion of the neck. The thyroglossal duct cyst is intimately related to the central portion of the hyoid bone and usually elevates along with the larynx during swallowing. Thyroglossal cysts can be defined as an irregular neck mass or a lump which develops from cells and tissues left over after the formation of the thyroid gland during the developmental stages.

Erythema nodosum is the most common type of inflammation of the subcutaneous fat tissue, referred to as panniculitis. Erythema nodosum appears as painful, erythematous round lumps, usually symmetrically on the anterior aspect of lower extremities. These lesions are self-limiting and tend to resolve within 2-8 weeks without undergoing necrosis or ulceration. There are various causes of erythema nodosum, but the most important among children is the streptococcal throat infection. Other causes include autoimmune conditions like sarcoidosis, inflammatory bowel disease, mycobacterial infection (TB), drugs like penicillin and sulphonamides, and malignancies like some leukemias and lymphomas.

Fluid replacement therapy should be initiated immediately because the patient is suffering from severe dehydration as shown by the low urine output, the dry mucous membranes and the low skin turgor.

Normal cerebrospinal fluid (CSF) glucose together with lymphocytosis, an increased opening pressure and raised CSF protein are typical of a viral meningitis.

The patient history suggests a spontaneous tension pneumothorax which is a life-threatening situation in which excess air is introduced into the pleural space surrounding the lung. When there is a significant amount of air trapped in the pleural cavity, the increasing pressure from this abnormal air causes the lung to shrink and collapse, leading to respiratory distress. This pressure also pushes the mediastinum (including the heart and great vessels) away from its central position, e.g. deviated trachea, and diminishing the cardiac output. Tension pneumothoraxes cause chest pain, extreme shortness of breath, respiratory failure, hypoxia, tachycardia, and hypotension. These are definitively managed by insertion of a chest tube. However, in the emergency setting temporizing measures are needed while chest tube materials are being gathered. In these situations, urgent needle thoracostomy (also called needle decompression) is performed.

Cricothyroidectomy is done in life threatening condition, where an incision is made in cricothyroid membrane to establish a patent airway.

The clinical picture suggests intracranial haemorrhage which is uncommon but prevalent in pre-term babies. The rest of the options suggest peripheral causes which do not affect the central function.

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

Maternal and fetal toxoplasma infection may be avoided by advising pregnant women to wear gloves when gardening or handling cat litter and to cook meat thoroughly. Affected babies are treated with pyrimethamine, sulfadiazine, and folic acid.

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.

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.

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.

Identify babies as being more likely to develop significant hyperbilirubinemia if they have any of the following factors:- gestational age under 38 weeks- a previous sibling with neonatal jaundice requiring phototherapy- mother’s intention to breastfeed exclusively- visible jaundice in the first 24 hours of life.

Lesions caused by herpes simplex virus may appear in various clinical stages. They are usually the result of an HSV-1 infection and they may appear on the face and neck. They start as fluid-filled blisters which eventually erupt into small painful ulcers.

The best answer is Henoch-Schönlein Purpura (HSP). This patient has a characteristic rash and the labs are consistent with this diagnosis.

Recommended regimens3 NRTI (e.g., zidovudine, lamivudine, abacavir) OR2 NRTI (e.g., lamivudine + abacavir) AND1 NNRTI (e.g., efavirenz) OR1 PI (e.g., lopinavir) OR1 INI (e.g., raltegravir)

Howell-Jolly bodies are often seen in post-splenectomy cases, together with Pappenheimer bodies, target cells and irregular contracted red blood cells. The loss of splenic tissue results in the inability to readily remove immature or abnormal red blood cells from the circulation.

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.

Adrenaline (epinephrine) narrows blood vessels and opens airways in the lungs. These effects can reverse severe low blood pressure, wheezing, severe skin itching, hives, and other symptoms of an allergic reaction.

Individuals with Down syndrome are at increased risk for a variety of eye and vision disorders. Fortunately, many of these eye problems can be treated, especially if discovered at an early age. The quality of life can be further enhanced by the proper assessment and correction of eye problems. The most common eye findings include:- Refractive errors – Children with Down syndrome are more likely to need glasses than are other children. This may be due to myopia (near-sightedness), hyperopia (far-sightedness), and/or astigmatism. Refractive error may develop early in life or later on.- Strabismus – Between 20% and 60% of individuals with Down syndrome have eyes that are misaligned (strabismus). Esotropia (eyes that drift in) is most common while exotropia(eyes that drift out) occurs less frequently. Strabismus may be treated with glasses, patching and/or eye muscle surgery.- Keratoconus – A cone shaped distortion of the cornea (front layer of the eye), occurs in up to 30% of those with Down syndrome. Keratoconus is usually diagnosed around puberty and should be monitored regularly. Blurred vision, corneal thinning, or corneal haze may result from keratoconus. Keratoconus is worsened by eye rubbing| therefore, eye rubbing should be discouraged.- Cataracts – There is an increased incidence of congenital cataracts (present at birth) as well as acquired cataracts (develop later). Cataracts may progress slowly and should be monitored regularly, with surgical treatment performed when appropriate.- Glaucoma- There is an increased risk of infantile glaucoma (elevated pressure within the eye).- Blepharitis – Inflammation of the eyelids with redness at the edge of the lids and crusting around the lashes may occur and cause a feeling of dryness or burning. Treatment is with eyelid hygiene and topical antibiotics.- Tearing – Excessive tears or watering of the eyes may occur because the drainage channels are blocked or narrow (nasolacrimal duct obstruction). This may require surgical intervention.- Nystagmus – This is an involuntary “back-and-forth” movement or shaking of the eyes. It can affect vision to a mild or severe degree.

The main result of a correlation is called the correlation coefficient (or r). It ranges from -1.0 to +1.0. The closer r is to +1 or -1, the more closely the two variables are related.If r is close to 0, it means there is no relationship between the variables. If r is positive, it means that as one variable gets larger the other gets larger. If r is negative it means that as one gets larger, the other gets smaller (often called an inverse correlation).

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.

Vitamin E deficiency in premature infants has been described as being associated with low haemoglobin levels in the 2nd month of life, haemolytic anaemia associated with thrombocytosis. Recently, low vitamin E concentrations were suspected as being associated with sudden death in infancy.

Intussusception is the most suggested case here based on the child’s symptoms. The urgent course of treatment is to bring the child to a paediatric surgical unit. If air reduction attempts fail, surgery will have to be done. Risk factors for intussusception include viral infection and intestinal lymphadenopathy.

Supination is the rotation of the forearm so that the palm of the hand faces anteriorly. This is performed by the biceps brachii and supinator of the extensor muscles of the thumb. The opposite action of moving the palm from an anterior-facing position to a posterior-facing position is called pronation. Pronation is performed by the pronator teres and pronator quadratus.

The Moro reflex is a normal primitive, infantile reflex. It can be seen as early as 25 weeks postconceptional age and usually is present by 30 weeks postconceptional age.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

Von Willebrand disease (VWD), a congenital bleeding disorder caused by deficient or defective plasma von Willebrand factor (VWF), may only become apparent on haemostatic challenge, and bleeding history may become more apparent with increasing age. Type 1 VWD (,30% of VWD) typically manifests as mild mucocutaneous bleeding. Type 2 VWD accounts for approximately 60% of VWD. Type 2 subtypes include: Type 2A, which usually manifests as mild-to-moderate mucocutaneous bleeding| Type 2B, which typically manifests as mild-to-moderate mucocutaneous bleeding that can include thrombocytopenia that worsens in certain circumstances| Type 2M, which typically manifests as mild-moderate mucocutaneous bleeding| Type 2N, which can manifest as excessive bleeding with surgery and mimics mild haemophilia A. Type 3 VWD (<10% of VWD) manifests with severe mucocutaneous and musculoskeletal bleeding.

Boys and men with Klinefelter syndrome typically have small testes that produce a reduced amount of testosterone (primary testicular insufficiency). Testosterone is the hormone that directs male sexual development before birth and during puberty. Without treatment, the shortage of testosterone can lead to delayed or incomplete puberty, breast enlargement (gynecomastia), decreased muscle mass, decreased bone density, and a reduced amount of facial and body hair. As a result of the small testes and decreased hormone production, affected males are not generally infertile but may benefit from assisted reproductive technologies. Some affected individuals also have differences in their genitalia, including undescended testes (cryptorchidism), the opening of the urethra on the underside of the penis (hypospadias), or an unusually small penis (micropenis).

Answer: Cystine stoneCystinuria is a genetic cause of kidney stones with an average prevalence of 1 in 7000 births. Cystine stones are found in 1 to 2 percent of stone formers, although they represent a higher percentage of stones in children (approximately 5 percent). Cystinuria is an inherited disorder. Inherited means it is passed down from parents to children through a defect in a specific gene. In order to have cystinuria, a person must inherit the gene from both parents. Cystine is a homodimer of the amino acid cysteine. Patients with cystinuria have impairment of renal cystine transport, with decreased proximal tubular reabsorption of filtered cystine resulting in increased urinary cystine excretion and cystine nephrolithiasis. The cystine transporter also promotes the reabsorption of dibasic amino acids, including ornithine, arginine, and lysine, but these compounds are soluble so that an increase in their urinary excretion does not lead to stones. Intestinal cystine transport is also diminished, but the result is of uncertain clinical significance.Cystinuria only causes symptoms if you have a stone. Kidney stones can be as small as a grain of sand. Others can become as large as a pebble or even a golf ball. Symptoms may include:Pain while urinatingBlood in the urineSharp pain in the side or the back (almost always on one side)Pain near the groin, pelvis, or abdomenNausea and vomitingStruvite stones are a type of hard mineral deposit that can form in your kidneys. Stones form when minerals like calcium and phosphate crystallize inside your kidneys and stick together. Struvite is a mineral that’s produced by bacteria in your urinary tract. Bacteria in your urinary tract produce struvite when they break down the waste product urea into ammonia. For struvite to be produced, your urine needs to be alkaline. Having a urinary tract infection can make your urine alkaline. Struvite stones often form in women who have a urinary tract infection.Calcium oxalate stones are the most common type of kidney stone. Kidney stones are solid masses that form in the kidney when there are high levels of calcium, oxalate, cystine, or phosphate and too little liquid. There are different types of kidney stones. Your healthcare provider can test your stones to find what type you have. Calcium oxalate stones are caused by too much oxalate in the urine.What is oxalate and how does it form stones?Oxalate is a natural substance found in many foods. Your body uses food for energy. After your body uses what it needs, waste products travel through the bloodstream to the kidneys and are removed through urine. Urine has various wastes in it. If there is too much waste in too little liquid, crystals can begin to form. These crystals may stick together and form a solid mass (a kidney stone). Oxalate is one type of substance that can form crystals in the urine. This can happen if there is too much oxalate, too little liquid, and the oxalate “sticks” to calcium while urine is being made by the kidneys.Uric acid stones are the most common cause of radiolucent kidney stones in children. Several products of purine metabolism are relatively insoluble and can precipitate when urinary pH is low. These include 2- or 8-dihydroxyadenine, adenine, xanthine, and uric acid. The crystals of uric acid may initiate calcium oxalate precipitation in metastable urine concentrates.Uric acid stones form when the levels of uric acid in the urine is too high, and/or the urine is too acidic (pH level below 5.5) on a regular basis. High acidity in urine is linked to the following causes:Uric acid can result from a diet high in purines, which are found especially in animal proteins such as beef, poultry, pork, eggs, and fish. The highest levels of purines are found in organ meats, such as liver and fish. Eating large amounts of animal proteins can cause uric acid to build up in the urine. The uric acid can settle and form a stone by itself or in combination with calcium. It is important to note that a person’s diet alone is not the cause of uric acid stones. Other people might eat the same diet and not have any problems because they are not prone to developing uric acid stones.There is an increased risk of uric acid stones in those who are obese or diabetic.Patients on chemotherapy are prone to developing uric acid stones.Only cystine stone is inherited.

The most probable diagnosis based on the scenario provided above is hereditary spherocytosis.While jaundice and abdominal pain might make you think of hepatitis or cholecystitis in the first instance, the lack of fever suggests otherwise. The apyrexial presentation is against acute cholecystitis, and the past medical history reveals a chronic type of fatigue and two previous episodes of hepatitis. Furthermore, it is unlikely that the child has contracted infective hepatitis twice and now a third time! The most common cause of hepatitis in childhood is hepatitis A, however the lack of travel history to endemic areas makes this less likely. Hepatitis A is usually a mild, self-limiting disease that never presents with chronic symptoms. The chronicity of his fatigue and the blood results lead towards a haematological diagnosis. This is further substantiated by his low haemoglobin levels, high MCV and high reticulocyte count. Chronic haemolytic anaemia is the most likely cause, and the negative Coombs excludes autoimmune haemolytic anaemia (AIHA). Thus, leaving us with the answer as hereditary spherocytosis.Hereditary spherocytosis is a disorder that makes the cytoskeleton of red cells more fragile and therefore leads to red cell death and splenomegaly. Gallstones are a result of this red cell destruction and increased haem metabolism.

The most probable cause for the patient’s presenting symptoms is encephalitis secondary to measles infection.Encephalitis:Encephalitis occurs in 1 per 1000 measles cases. It usually presents within 1–14 days of the rash, usually day 5. It may present with fever, headache, vomiting, stiff neck, meningeal irritation, drowsiness, seizures, reduced consciousness| 15% will have neurological sequelae| 10% mortality.Other options:- Acute disseminated encephalomyelitis occurs in 1 per 1000 measles cases. It is thought to be a postinfectious immune response. Clinical manifestations include fever, headache, neck stiffness, seizures and mental status changes. It could fit this presentation although it tends to present in the recovery phase of measles infection, typically two weeks after the exanthem. In contrast, encephalitis tends to occur within a few days of the rash.- The history is not that of a typical febrile seizure as it lasted >15 minutes. He has also not recovered consciousness at 4 hours. The diazepam should have been eliminated within 4 hours and so should no longer be contributing to his reduced level of consciousness. Also, the history states the recent diagnosis of measles, and so complications of measles should be considered.- Intracranial bleed secondary to thrombocytopenia: Measles is not known to cause thrombocytopenia.- Subacute sclerosing panencephalitis (also known as Dawson’s encephalitis): This is an extremely rare complication of measles. It is a progressive degenerative disease of the central nervous system that occurs 7–10 years after a measles infection. The treatment for SSPE is mainly intraventricular interferon therapy through an Ommaya reservoir. The prognosis is poor, and it is usually fatal.