Children are able to use a palmar grasp by the age of 6 months and use a pincer grasp by the age of 9 to 10 months. They can sit with support by 6 months and sit without support by 7 to 9 months. They can vocalize by 3 months. Stranger fear appears from 7 to 10 months. So this baby’s development is normal.

The x-ray is suggestive of bronchiectasis. The most probable aetiology especially considering recurrent chest infections at such a young age is cystic fibrosis.

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.

The most likely causative organism for the symptoms of this child is Giardia lamblia.Giardiasis results in fat malabsorption thus giving rise to greasy stools. It is resistant to chlorination, hence has a risk of transfer in swimming pools.World Health Organisation definitions- Diarrhoea: > 3 loose or watery stool per day- Acute diarrhoea < 14 days- Chronic diarrhoea > 14 daysConditions that usually present as acute diarrhoea:- Gastroenteritis: It may be accompanied by abdominal pain or nausea/vomiting.- Antibiotic therapy: Can occur following antibiotic therapy, especially common with broad spectrum antibiotics.Conditions that usually present as chronic diarrhoea:- Irritable bowel syndrome: It is a very common disease.The most consistent features are abdominal pain, bloating and change in bowel habit. Patients may be divided into those with diarrhoea predominant IBS and those with constipation-predominant IBS.Features such as lethargy, nausea, backache and bladder symptoms may also be present in these patients.- Ulcerative colitis: It presents as bloody diarrhoea. Patients can also present with crampy abdominal pain and weight loss. Faecal urgency and tenesmus may be seen.- Crohn’s disease: It is also associated with crampy abdominal pains and diarrhoea. Bloody diarrhoea less common than in ulcerative colitis. Other features include malabsorption, mouth ulcers perianal disease and intestinal obstruction – Colorectal cancer: It is very rare in children. The symptoms depend on the site of the lesion but include diarrhoea, rectal bleeding, anaemia and constitutional symptoms like weight loss and anorexia.- Coeliac disease: In children, it may present with failure to thrive, diarrhoea and abdominal distension.Other conditions associated with diarrhoea include thyrotoxicosis, laxative abuse, appendicitis, and radiation enteritis.

A height that is above the 97th percentile for age and sex is described as a tall stature. The most common cause of tall stature is constitutional or familial, followed by nutritional causes. Hormonal causes of tall stature include hyperthyroidism, growth hormone excess, and precocious puberty. Some important chromosomal and syndromic causes of tall stature are Klinefelter’s syndrome, homocystinuria, Marfan’s syndrome, Sotos syndrome, Beckwith-Weidman syndrome, and Weaver syndrome. Laurence-Moon syndrome is an autosomal recessive disorder characterized by short stature, retinitis pigmentosa, and spastic paraplegia.

Clinical signs of early pregnancy-Amenorrhoea-Nausea and vomiting -Breast enlargement and tenderness -Hyperpigmentation of the areola and formation of linea nigra: Most likely due to increased levels of melanocyte-stimulating hormone produced by the placenta -Increased urinary frequency-Fatigue-Cravings for or aversions to certain foods-Abdominal bloating and constipation

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.

The patient is suffering from an anaphylactic reaction to the cashew nut he consumed.Anaphylaxis:Anaphylaxis is an acute, rapidly progressing, potentially life-threatening IgE mediated Type I hypersensitivity reaction.It involves the release of mediators from mast cells, basophils and inflammatory cells. It is characterised by oedematous swelling of the airway mucosa giving rise to dyspnoea and respiratory distress.The most common cause of anaphylaxis in children is a food allergy.Risk factors for death in patients with anaphylaxis include asthma, age 11+, peanut allergy, and delay in adrenaline administration.Management of anaphylaxis includes:- Resuscitation – ABCD- Remove the allergen- IM adrenaline is given at ten microgram/kg or Nebulised adrenaline 5ml 1:1,000- IV Hydrocortisone is given at 4mg/kg- pro re nata IV fluid support. – Followed by observation.

While the clinical scenario and the anosmic presentation of the child are highly suggestive of Kallmann’s syndrome, reduced testosterone, FSH and LH levels can confirm the diagnosis.Kallman’s syndrome is a recognised cause of delayed puberty secondary to hypogonadotropic hypogonadism. It is usually inherited as an X-linked recessive trait. Kallman’s syndrome is thought to be caused by a failure of GnRH-secreting neurons to migrate to the hypothalamus.Clinical features of Kallmann’s syndrome include:- Delayed puberty- Hypogonadism, cryptorchidism- Anosmia- Low sex hormone levels – Inappropriately low/normal LH and FSH levels- Some patients can present with associated cleft lip/palate and visual/hearing defects.

The most common etiological agent for retinitis in HIV infected patients is cytomegalovirus (88.63% of retinitis in HIV/AIDS patients). Most patients have a CD4 lymphocyte count less than 50/μL, which can represent the susceptibility to this type of retinitis when lymphocyte count falls below this threshold. The treatment consists of systemic intravenous administration of Ganciclovir or Foscarnet at a first stage of induction, followed by the maintenance treatment with oral administration of Ganciclovir.

Intussusception is an urgent condition that must be excluded first as it may lead to life-threatening complications.

In boys, the first manifestation of puberty is testicular enlargement| the normal age for initial signs of puberty is 9 to 14 years in males. Pubic hair in boys generally appears 18 to 24 months after the onset of testicular growth and is often conceived as the initial marker of sexual maturation by male adolescents.

Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years.

There are 6 pharyngeal arches, the fifth does not contribute any useful structures and often fuses with the sixth arch. The structures arising from the aortic arches are as follows:First aortic arch: It regresses except for a very small part that gives rise to the maxillary artery.Second aortic arch: It regresses except for a very small part giving rise to the stapedial artery.Third aortic arch: This arch is the source of the common carotid artery and the proximal part of the internal carotid artery, and the external carotid which arises as a bud from this arch.Right Fourth aortic arch: Is the genesis of the proximal part of the right subclavian artery.Left Fourth aortic arch: Gives rise to the medial portion of the arch of the aorta.Fifth aortic arch: The fifth aortic arch regresses completely and very early in the development.Sixth aortic arch: Either of the sixth aortic arches divides into ventral and dorsal segments, and therefore, their derivatives also divide into these two segments.Right Sixth Arch:Ventral: Gives rise to the right pulmonary artery.Dorsal: It degenerates completely and loses its connection with the dorsal aorta.Left Sixth ArchVentral: It gives rise to the left pulmonary artery that goes to the left pulmonary bud.Dorsal: It forms a vital connection during intrauterine life between the left pulmonary artery and the arch of the aorta. This structure is called ductus arteriosus.

Haemolytic uremic syndrome belongs to a heterogeneous group of disorders characterized by a triad of thrombocytopenia, microangiopathic haemolytic anaemia, and acute kidney injury. It is one of the most common causes of renal injury in children. The clinical findings are due to thrombotic microangiopathy, which leads to arterioles and capillary wall thickening along with endothelial swelling and detachment. The significant laboratory findings include increased white cell count, raised serum urea and creatinine, increased serum LDH, decreased platelet count, haematuria, and proteinuria.

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.

This girl most probably has Turner’s syndrome, which is caused by the absence of one set of genes from the short arm of one X chromosome.Turner syndrome is a lifelong condition and needs lifelong oestrogen replacement therapy. Oestrogen is usually started at age 12-15 years. Treatment can be started with continuous low-dose oestrogens. These can be cycled in a 3-weeks on, 1-week off regimen after 6-18 months| progestin can be added later.In childhood, growth hormone therapy is standard to prevent short stature as an adult.Fetal ovarian development seems to be normal in Turner syndrome, with degeneration occurring in most cases around the time of birth so pulsatile GnRH and luteinising hormone would be of no use.

A periosteal reaction can result from a large number of causes, including injury and chronic irritation due to a medical condition such as hypertrophic osteopathy, bone healing in response to fracture, chronic stress injuries, subperiosteal hematomas, osteomyelitis, and cancer of the bone. This history is consistent with a toddler’s fracture. Here a minor, usually twisting, injury results in a spiral fracture of the tibia. An initial X-ray may appear normal as the periosteum holds the bone together preventing displacement. Ten days later a repeat X-ray will show callous formation and confirm the diagnosis.

Bowel sounds in the chest and curved NG tube are suggestive of a diaphragm rupture, which has caused herniation of bowel into the thoracic cavity through the defect in the diaphragm.

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.

Von Hippel-Lindau syndrome is a genetic disorder inherited in autosomal dominant fashion. It is caused by the mutations of the VHL gene located on chromosome 3. The syndrome is characterized by the creation of multiple benign and malignant tumours involving various bodily systems along with the formation of numerous visceral cysts, including the renal and epididymal cysts. Down’s syndrome is associated with renal cysts, but it does not follow the autosomal dominant mode of inheritance, rather it is caused by non-disjunction of chromosome 21 during meiosis. Exomphalos is a defect of the medial abdominal wall leading to abnormal protrusion of abdominal viscera through it. It is not associated with renal cysts. Turner’s syndrome may be associated with renal cysts formation, but it is not transmitted in an autosomal dominant fashion. Polycystic kidney disease of childhood follows an autosomal recessive pattern of transmission.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterized by intestinal hamartomatous polyps in association with a distinct pattern of skin and mucosal macular melanin deposition (freckles on the lips, face, palms and soles). Patients with Peutz-Jeghers syndrome have an estimated 15-fold increased risk of developing intestinal cancer compared to the general population.Management: conservative unless complications develop.

The primary intestinal loop is formed from the midgut which gives rise to the distal half of the duodenum, the jejunum, ascending colon, proximal two thirds of the transverse colon and the ileum.

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.

Certain infections and medications cause characteristic skin lesions, which are the result of hypersensitivity reactions to these agents. A skin rash characterized by the eruption of macules, papules, and target-like circular lesions is referred to as erythema multiforme. The target or iris lesions appear rounded with a red centre surrounded by a pale ring, which in turn is surrounded by a dark red outer ring. These are acute and self-limiting with a propensity for distal extremities. The most common infectious cause is the infection with herpes simplex virus 1 and 2 to a lesser extent. Other notable infectious causes of erythema multiforme include Mycoplasma pneumoniae, cytomegalovirus, HIV, hepatitis c virus, varicella zoster virus, adenovirus, and some fungal infections. Norovirus infection has not been implicated in the aetiology of erythema multiforme.

Intensive physical training and participation in competitive sports during childhood and early adolescence may affect athletes’ pubertal development.Female athletes who do not begin secondary sexual development by the age of 14 or menstruation by the age of 16 warrant a comprehensive evaluation and treatment.Since she is still 14, adequate diet and observation are enough.

Benign intracranial hypertension is characterized by an elevation of the CSF pressure that is not caused by hydrocephalus or any space-occupying lesion. The cause is most likely the decreased absorption of CSF into the dural sinuses. The main symptoms are headache and visual abnormalities. It can lead to blindness if not managed on time. The most important risk factors for BIH are female gender and obesity. The causes of BIH include iron deficiency anaemia, sarcoidosis, Lyme disease, SLE, polycythaemia vera, chronic kidney disease, meningitis, and sleep apnoea.

A drooping eyelid is called ptosis or blepharoptosis. In ptosis, the upper eyelid falls to a position that is lower than normal. Severe ptosis may cover part or all of the pupil and interfere with vision, resulting in amblyopia.Visual development in a child can be permanently impaired when there is deprivation of visual stimulation or when the oculomotor function is impaired. Congenital ptosis can represent both these components

Although WPW syndrome is a type of supraventricular re-entrant tachycardia, CCBs are contraindicated in its management. This is because CCBs depress AVN conduction| the current then passes through the accessory pathway (bundle of Kent) instead, causing ventricular tachycardia.

The most probable diagnosis for this patient would be external angular dermoid.External angular dermoids typically form where there are overlapping tissue planes such as the midline. They contain a caseous material. The cysts are essentially benign in nature and are excised for cosmetic purposes or when they encroach on vision.Other options:- Branchial remnant typically presents as a supraclavicular pit.- Sebaceous cysts tend to be present on the scalp.- There is nothing in the clinical scenario to suggest a vascular malformation such as pigment change or ‘bag of worms’.- Lymphatic malformations are typically found in the neck or under the axilla.