Neurofibromatosis Type 1 (also known as von Recklinghausen disease) does not present with cataracts.The eye findings in NF1 are Lisch’s nodules, which are pigmentary lesions seen on the iris and constitute one of the major diagnostic features in this condition. Note:Interestingly, in another syndrome closely related to it, Neurofibromatosis type 2 (NF-2), cataracts can occur. Early detection in family members may be made by finding lens opacities (both congenital polar cataracts and posterior lenticular opacities). Other options:- Incontinentia pigmenti is an X-linked dominant disorder with pigmentary skin changes, mental retardation and eye involvement in 40% of cases. – Myotonic dystrophy is a triplet-repeat disorder with neurological symptoms and cataracts. – Lowe syndrome (oculo-cerebro-renal syndrome) is an X-linked recessive condition. Males with this X-linked recessive condition have cataracts, hypotonia, mental retardation, generalised aminoaciduria and renal tubular acidosis with hypophosphatemia. – Wilson disease is an inborn error of copper metabolism. The clinical features include hepatic involvement, progressive neurological features, eye involvement, including Kayser–Fleischer rings and cataracts.

The most appropriate next step in the management of this patient would be to use E45 cream instead of soap. Using a greasier emollient and an antihistamine at night can also be trialled..Management of eczema:Treatment of eczema can be problematic, and thus, parents should be advised regarding simple, everyday measures that can relieve the symptoms. These include:- Using non-biological washing powder- Wearing cotton clothes as opposed to artificial fibres- Avoiding the use of soaps or shampoos and using E45 Cream as an alternative.- Additional use of bath oil (e.g. Oilatum) is found to be beneficial.- Regular emollient use is recommended and essential. The aim is to keep the skin from feeling dry at any time of day. Sedating with older types of antihistamines at night does not help to reduce itching, but when used in large doses, they occasionally provide a sedative effect which may improve sleep. If all these measures are in use, but the eczema is still not controlled, the escalation of treatment would be appropriate. Note: There is no evidence for the benefit of topical antibiotics.

Prophylactic antibiotics should be given to the child to avoid infections and renal injury.

By 15 months, it’s common for many toddlers to:- say three to five words.- understand and follow simple commands.- point to one body part.- walk alone and begin to run.- climb on furniture.- make marks with a crayon.- imitate activities, such as housework.

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

Being anatomically situated immediately posterior to the subclavius muscle and the medial part of the clavicle, the subclavian vein is at the highest risk of injury in the above patient.As a direct tributary of the brachiocephalic vein, it’s injury poses a high risk of massive bleeding.The brachiocephalic vein rests on the first rib, below and in front of the third part of the subclavian artery, and then on scalenus anterior which separates it from the second part of the artery (posteriorly).Anatomy of the clavicle:The clavicle extends from the sternum to the acromion and helps prevent the shoulder falling forwards and downwards.

Based on the presenting features, the patient has developed a septal haematoma after the trauma. Septal hematoma:In this condition, blood collects between the septal cartilage and the perichondrium. The patient classically presents with symptoms of nasal difficulty and pain following a nasal injury. Care should be taken not to misdiagnose a septal haematoma as a blood clot on the septum. In the case of a septal haematoma the swelling will typically be visible on both sides of the septum although this is not always the case. Referral to an ENT surgeon is indicated because, if untreated, there is a high risk of cartilage breakdown and complications related to infection.Other options:- The nosebleed has now stopped therefore compression is no longer required. The boy has developed a septal haematoma after traumatic injury. – CT head is not indicated in this patient as the diagnosis is clearly a septal hematoma.- Management of a septal hematoma consists of drainage and antibiotics. There is no role for intranasal corticosteroids.- If untreated, there is a high risk of cartilage breakdown and complications related to infection. Thus, referral to the ENT is essential| reassurance and discharge can lead to complications.

Amniotic fluid is the protective liquid that surrounds the fetus in utero. It prevents the fetus from injury, protects the umbilical cord from compression, and provides necessary nutrients and a medium for growth and movement. Amniotic fluid originates from the maternal plasma initially, but by 16th week of gestation, fetal kidneys start making urine which contributes to further production of the amniotic fluid. Amniotic fluid contains a number of chemical substances including hormones, tumour markers, nutrients, electrolytes, and immunoglobulins. Main substances found in amniotic fluid include carbohydrates, proteins, lipids, lactoferrin, insulin-like growth factor, granulocyte colony-stimulating factor, erythropoietin, etc. Interleukin-1 is not a component of AF.

In the prenatal heart, right-to-left atrial shunting of blood through the foramen ovale is essential for proper circulation. After birth, as the pulmonary circulation is established, the foramen ovale functionally closes as a result of changes in the relative pressure of the two atrial chambers, ensuring the separation of oxygen-depleted venous blood in the right atrium from the oxygenated blood entering the left atrium.

Jacob is likely to be four years old as demonstrated by his activities throughout the day. Most 4 year olds are able to run well, jump and hop, but find skipping a little more difficult. They are able to brush their teeth and dress themselves with supervision, and go to the toilet alone.

Most experts suggest that parents reassurance in case of infantile gastro-oesophageal reflux (GOR) is a sufficient initial measure that involves education about regurgitation and lifestyle changes.

Gait variations in children are usually physiologically normal and only become a cause of concern when they persist or are associated with pain or other medical symptoms. Genu varus, also known as knock knees causes an outward rotation of the leg, leading the toes pointing outwards. The condition usually resolves by the age of 18 months. In comparison, in- toeing occurs with genu varus. Metatarsus adductus is also associated with an inward pointing of the toes.

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.

The most appropriate next step would be to request for an EEG (electroencephalogram).The two primary differential diagnoses for the clinical scenario presented would be night terrors (hypnopompic hallucinations) due to underlying narcolepsy or frontal lobe epilepsy.Though occult airway obstruction and obstructive sleep apnoea can cause sleep disturbances, the clinical scenario presented is more suggestive of neurological disorders.The hyper-motor activity, along with arm posturing (often dystonic in appearance) and multiple occurrences per night would favour epilepsy. The daytime somnolence could be secondary to the nocturnal seizures.

The history is suggestive of mumps. Mumps is a viral disease with initial signs and symptoms including fever, muscle pain, headache, poor appetite, and feeling tired. This is then usually followed by painful swelling of one or both parotid salivary glands. Mumps is a self-limiting condition treated only for symptomatic relief. As he currently is taking analgesics for pain relief, one should only offer reassurance.

Hassall’s corpuscles are groups of epithelial cells within the thymic medulla. The physical nature of these structures differs between mammalian species. Although Hassall’s corpuscles have been proposed to act in both the removal of apoptotic thymocytes and the maturation of developing thymocytes within the thymus, the function of Hassall’s corpuscles has remained an enigma.

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.

The drainage of cerebral spinal fluid from the third ventricle to the fourth ventricle is carried out by the cerebral aqueduct. The cerebral aqueduct is the narrowest passageway in the entire ventricular system and thus forms the most common site of blockage of flow of cerebrospinal fluid. The interventricular foramen allows passage of CSF to the third ventricle. The foramen of Luschka and Magendie are located on the fourth ventricle and allow passage of CSF to the subarachnoid space from the ventricular system. The pontine cistern is a space located on the ventral aspect of the pons. The cisterna magna is an opening on the subarachnoid space between the pia matter and the arachnoid.

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.

Immunoglobulin G (IgG) glomerular immune deposits are seen more commonly in HSP compared to IgA nephropathy.The presentation of the child is highly suggestive of Henoch-Schönlein purpura (HSP). It is an IgA-mediated, autoimmune hypersensitivity vasculitis that targets the small vessels of the skin, GI tract, kidneys, and joints.It is most commonly seen in children aged 3 – 6years and is twice as common in boys than girls. Preceding viral URTI with low-grade pyrexia is common. The most common organism associated with HSP is, however, Group A streptococcal infection A.A purpuric rash is seen on the back of the legs and buttocks and can less frequently, affect the arms. Arthralgia is common (usually knees/ankles) in these patients. Abdominal pain and bloody diarrhoea may occur. And half of the children with HSP have renal involvement. Rarely, it can lead to end-stage renal failure.Treatment includes adequate hydration, occasionally steroids, and other immunosuppressants. The disease can recur in 1 in 3 children.

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.

The baby most likely has umbilical granuloma – granulation tissue may persist at the base of the umbilicus after cord separation| the tissue is composed of fibroblasts and capillaries and can grow to more than 1 cm.Medical therapy is indicated only when an infection is present.Silver nitrate application to umbilical granulomas is usually successful. One or more applications may be needed. Care must be taken to avoid contact with the skin. Silver nitrate can cause painful burns. Small umbilical granulomas with a narrow base may be safely excised in the office setting. Large granulomas and those growing in response to an umbilical fistula or sinus do not resolve with silver nitrate and must be surgically excised in the operating room setting.

Possible Zika virus infections have been identified in breastfeeding babies, but Zika virus transmission through breast milk has not been confirmed. Additionally, we do not yet know the long-term effects of Zika virus on young infants infected after birth. Because current evidence suggests that the benefits of breastfeeding outweigh the risk of Zika virus spreading through breast milk, CDC continues to encourage mothers to breastfeed, even if they were infected or lived in or travelled to an area with risk of Zika.

The umbilical cord that connects the fetus to the placenta is about 50cm long. This tissue consists of the body stalk and vitelline duct. The former containing the allantoic diverticulum and the umbilical vessels. The latter contains the connection linking the digestive tube and the yolk sac. This cord is wrapped by stratum of ectoderm and gelatinous tissue or jelly of Wharton. The right umbilical vein plus the vitelline vessels and ducts disappear and this at birth the cord has three vessels which are the umbilical vein and two umbilical arteries.

At the age of 6 months, children can begin to be weaned off breastmilk and formula feeds. One healthy and inexpensive way to do this is through infant led weaning as opposed to the conventional spoon feeding method. Children are able to enjoy a variety of soft finger foods even before they grow teeth, so all food does not need to be pureed or sweet. Children should however not be given cow’s milk until the age of 1 year.

Compared to parametric tests, non parametric tests are seen to be less powerful as they often contend with fewer assumptions, and may use less information from the data. Sample sizes can be smaller. The samples do not have to follow a normal distribution as in parametric tests, and data may be ordinal, ranked or contain outliers that cannot be removed. Therefore nonparametric tests are well suited for these instances and do not need to be used as a last resort. They are not any more complex than parametric tests.

An enlarged lymph node does not necessarily need treatment especially if it is caused by a virus. If it is bacterial, antibiotics should be prescribed. Amoxicillin is first line treatment in non-penicillin allergic patients and side effects include allergic reactions like skin rash and itching

As this boy has experienced significant dry spells in the past, it is unlikely that a structural abnormality is causing the enuresis. The only therapies that have been shown to be effective in randomized trials are alarm therapy and treatment with desmopressin acetate or imipramine. Bladder training exercises are not recommended. Desmopressin acetate is the preferred medication for treating children with enuresis.

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.

While the cause for Bell’s palsy is still under debate, it is observed that Bell’s palsy is often preceded by a viral infection. Bell’s Palsy:Bell’s palsy (idiopathic facial palsy) is an acute unilateral lower motor neurone palsy. It typically occurs two weeks after viral infection such as Epstein–Barr, herpes simplex, herpes zoster or mumps. A careful assessment may suggest an alternative aetiology for the acute onset of weakness, e.g. acute otitis media, Lyme disease, hypertension. Causes:In childhood, Bell’s palsy is probably a post-infectious (i.e. immune-mediated) phenomenon, while in adults, there is increasing evidence that the majority of cases follow reactivation of previous HSV infection. Management:The prognosis is generally good in childhood with full recovery in the majority. However, permanent weakness is observed in around 5%. Steroids and acyclovir may have some benefit in adults with recent onset of weakness, but the evidence of the treatment benefit is much less convincing in childhood. Exposure keratitis is an important complication and children should be managed with eye drops and taping of the eyelid at night until recovery is complete.