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.

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.

Vagus nerve lesions will affect the gag reflex since the pharyngeal muscles are innervated by it.The vagal nerve (10th cranial nerve ) is a mixed nerve carrying motor efferents and sensory afferents. The nerve conducts five distinct qualities, which are carried along general visceral efferent fibres (parasympathetic innervation of pharyngeal, laryngeal, bronchial, and gastrointestinal mucosa), general visceral afferent fibres (sensory information from the thoracic and abdominal viscera, the aortic body, aortic arch), special visceral afferent fibres (carry the taste of the epiglottal region), general somatic afferent fibres (carry sensation from the external auditory meatus, outer tympanic membrane, back of the ear, part of meninges, pharynx), and along special visceral efferent fibres, which innervate skeletal muscles of the pharynx and larynx. Skeletal muscles innervated by the vagal nerve include the cricothyroid, levator veli palatini, salpingopharyngeus, palatoglossal, palatopharyngeus pharyngeal constrictor, and the laryngeal muscles (except cricothyroid). Innervation of these muscles is involved during speech or opening of the larynx during breathing. Efferent parasympathetic fibres control heart rate, peristalsis, and sweating. Stimulation of the efferent parasympathetic fibres lowers heart rate or blood pressure. 80-90% of the vagal fibres are afferent, only 10-20% are efferent fibresPhysical exam of the 10th cranial nerve includes eliciting the gag reflex (The gag reflex involves a brisk and brief elevation of the soft palate and bilateral contraction of pharyngeal muscles evoked by touching the posterior pharyngeal wall.), to look if the uvula is deviated from the side of the lesion, if there is failure of palate elevation upon phonation, and evaluation of speech impairment.In case of bilateral vagal nerve lesions, heart rate and breath rate may be increased. The somatic sensory function can be assessed by testing the sensibility of the external auditory meatus.

Any 2-month-old child presenting with any of the above signs, should be assessed and have a history taken and physical examination made before discharge. As these may all be signs and symptoms for a condition requiring hospitalisation.

Coarctation of the aorta is one of the serious forms of congenital heart diseases characterized by a congenitally narrowed down proximal thoracic aorta. This narrowing is usually located distal to the origin of the left subclavian artery. Coarctation can occur in isolation but can accompany other cardiac lesions, including a bicuspid aortic valve. When the coarctation is located just above the left subclavian artery, raised blood pressure can be noted in the right arm. The most common type of murmur found in coarctation of the aorta is a diastolic murmur of aortic regurgitation due to the presence of a bicuspid aortic valve. Exercise augmented cardiac output is only affected in cases where coarctation of the aorta leads to heart failure. Hypertension persists even after the surgical repair and needs to be closely monitored.

The ductus arteriosus is normally patent during fetal life; it is an important structure in fetal development as it contributes to the flow of blood to the rest of the fetal organs and structure. From the 6th week of fetal life onwards, the ductus is responsible for most of the right ventricular outflow, and it contributes to 60% of the total cardiac output throughout fetal life. Only about 5-10% of its outflow passes through the lungs.This patency is promoted by continual production of prostaglandin E2 (PGE2) by the ductus.In the foetus, the oxygen tension is relatively low, because the pulmonary system is non-functional. Coupled with high levels of circulating prostaglandins, this acts to keep the ductus open. The high levels of prostaglandins result from the little amount of pulmonary circulation and the high levels of production in the placenta.At birth, the placenta is removed, eliminating a major source of prostaglandin production, and the lungs expand, activating the organ in which most prostaglandins are metabolized. In addition, with the onset of normal respiration, oxygen tension in the blood markedly increases. Pulmonary vascular resistance decreases with this activity.Normally, functional closure of the ductus arteriosus occurs by about 15 hours of life in healthy infants born at term. This occurs by abrupt contraction of the muscular wall of the ductus arteriosus, which is associated with increases in the partial pressure of oxygen (PO2) coincident with the first breath. A preferential shift of blood flow occurs; the blood moves away from the ductus and directly from the right ventricle into the lungs. Until functional closure is complete and PVR is lower than SVR, some residual left-to-right flow occurs from the aorta through the ductus and into the pulmonary arteriesA balance of factors that cause relaxation and contraction determine the vascular tone of the ductus. Major factors causing relaxation are the high prostaglandin levels, hypoxemia, and nitric oxide production in the ductus. Factors resulting in contraction include decreased prostaglandin levels, increased PO2, increased endothelin-1, norepinephrine, acetylcholine, bradykinin, and decreased PGE receptors. Increased prostaglandin sensitivity, in conjunction with pulmonary immaturity leading to hypoxia, contributes to the increased frequency of patent ductus arteriosus (PDA) in premature neonates.Although functional closure usually occurs in the first few hours of life, true anatomic closure, in which the ductus loses the ability to reopen, may take several weeks. The second stage of closure related to the fibrous proliferation of the intima is complete in 2-3 weeks.

The most probable cause for the patient’s symptoms is intussusception.Intussusception is a condition in which part of the intestine folds into the section next to it. It most commonly involves the small bowel and rarely the large bowel. Intussusception doesn’t usually require surgical correction. 80% of cases can be both confirmed and reduced using barium, water-soluble or air-contrast enema. However, up to 10% of cases can experience recurrence within 24 hours after reduction, warranting close monitoring during this period.Other options:- Enteric duplication: a duplication cyst could give all these features, although it may contain sufficient gastric epithelium to produce a positive Meckel’s scan. However, this is comparatively rare. – Meckel’s diverticulum: Scintigraphy has poor sensitivity making the possibility of a bleed from a Meckel’s diverticulum a genuine differential for this patient. However, considering the presence of features of bowel obstruction in the patient, a Meckel’s diverticulum bleeding and obstructing at the same time would be a rare phenomenon. – Midgut volvulus: It is also a plausible differential in this patient. However, for the given age group, a midgut volvulus is relatively uncommon compared to intussusception. – Acute appendicitis: While it is true that appendicitis can present acutely with a palpable mass and bowel obstruction, it rarely presents with rectal bleeding.

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.

The boy is most likely to have sustained an injury to his brachial plexus as a result of upward traction of his arm for an extended period of time. We can rule out the topmost nerve roots of the brachial plexus, C6 and C7 as these supply the larger muscles of the arm responsible for moving the shoulder, the elbow and the wrist. The anatomical structure affected is therefore the T1 nerve root which is responsible for movement of the muscles in the hand. This type of injury is called a Klumpke’s Palsy, which is the result of a hyper-abducted trauma to the arm, damaging the C8 and T1 nerve roots. While the radial and ulnar nerve also innervate the hand, the history given points to Klumpke’s palsy as the best explanation for this mechanism of injury.

When topical agents are insufficient or not tolerated, or in cases of moderate to severe acne, especially when the chest, back and shoulders are involved, systemic antibiotics are often considered the next line of treatmentSystemic antibiotics should not be used to treat mild acne because of the risk of increasing resistance. The additional use of nonantibiotic topical agents in combination with oral antibiotics should be considered. Topical retinoids with oral antibiotics may give a faster response and be more effective than either drug used alone.Treatment with tetracyclines and erythromycin reduces P. acnes within the follicles, thereby inhibiting the production of bacterial-induced inflammatory cytokines. These agents also have inherent anti-inflammatory effects, such as suppressing leukocyte chemotaxis and bacterial lipase activity.

Upper respiratory tract infection when not treated accordingly can lead to otitis media and the patient presents with severe earache and fever.

A low serum free T4 level with a low, or normal serum TSH level would indicate secondary hypothyroidism. A normal TSH response to TRH is a rise at 20 minutes post-dose and then a fall by 60 minutes, while a normal prolactin response would be a rise at 20 minutes and then a fall by 60 minutes. A continued rise of TSH at 60 minutes implies hypothalamic damage. Secondary hypothyroidism is indicated by a low baseline TSH level, while primary hypothyroidism is demonstrated by a raised TSH.

Jaundice is considered pathologic if it presents within the first 24 hours after birth. Although up to 60 percent of term new-borns have clinical jaundice in the first week of life, few have significant underlying disease.1,2 However, hyperbilirubinemia in the new-born period can be associated with severe illnesses such as haemolytic disease, metabolic and endocrine disorders, anatomic abnormalities of the liver, and infections. The risk factors here is the mothers blood ground which suggests the cause is fetal-maternal blood group incompatibility.

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.

The likely diagnosis in this case is Haemolytic Uremic Syndrome (HUS), which is generally seen in young children presenting with a triad of symptoms, namely: acute renal failure, microangiopathic haemolytic anaemia, and thrombocytopenia. The typical cause of HUS is ingestion of a strain of Escherichia coli causing diarrhoea in these cases as well.

Generally, bed-wetting before age 7 isn’t a concern as the child may still be developing night-time bladder control. The child is less than 5 years and most children will outgrow bed-wetting on their own. Therefore only reassurance and behavioural therapy are suggested at this stage.

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.

Munchausen syndrome by proxy is a mental illness and a form of child abuse. The caretaker of a child, most often a mother or a father, either makes up fake symptoms or causes real symptoms to make it look like the child is sick. The person with MSP gains attention by seeking medical help for exaggerated or made-up symptoms of a child in his or her care. As health care providers strive to identify what’s causing the child’s symptoms, the deliberate actions of the mother or caretaker can often make the symptoms worse.The person with MSP does not seem to be motivated by a desire for any type of material gain. People with MSP may create or exaggerate a child’s symptoms in several ways. They may simply lie about symptoms, alter tests (such as contaminating a urine sample), falsify medical records, or they may actually induce symptoms through various means, such as poisoning, suffocating, starving, and causing infection.

Tuberous sclerosis is an autosomal dominant neurocutaneous condition associated with increased psychiatric co-morbidity. It results from the mutation of TSC1 or TSC2 tumour suppressor genes. Multiple benign tumours of the brain and other vital organs are characteristic of this disease. Important findings include subependymal nodules, bone cysts, cardiac rhabdomyoma, and learning difficulties. Lisch nodules of the iris occur in neurofibromatosis.

Atopic dermatitis (AD), also called atopic eczema, is a common chronic or recurrent inflammatory skin disease and affects 15-20% of children and 1-3% of adults worldwide. It is characterized by acute flare-ups of eczematous pruritic lesions over dry skin.The incidence has increased by 2- to 3-fold during the past decades in industrialized countries.Some of the most valuable AD prevalence and trend data have come from the International Study of Asthma and Allergies in Childhood (ISAAC). This is the biggest (close to 2 million children in 100 countries) and only allergy study that has taken a truly global approach. The strength of the study is the use of a uniformly validated methodology allowing a direct comparison of results between paediatric populations all over the world (http://isaac.auckland.ac.nz/index.html).

The paired sample t-test, sometimes called the dependent sample t-test, is a statistical procedure used to determine whether the mean difference between two sets of observations is zero. In a paired sample t-test, each subject or entity is measured twice, resulting in pairs of observations. Common applications of the paired sample t-test include case-control studies or repeated-measures designs.Statistical significance is determined by looking at the p-value. The p-value gives the probability of observing the test results under the null hypothesis. The lower the p-value, the lower the probability of obtaining a result like the one that was observed if the null hypothesis was true. Thus, a low p-value indicates decreased support for the null hypothesis. However, the possibility that the null hypothesis is true and that we simply obtained a very rare result can never be ruled out completely. The cut-off value for determining statistical significance is ultimately decided on by the researcher, but usually a value of .05 or less is chosen. This corresponds to a 5% (or less) chance of obtaining a result like the one that was observed if the null hypothesis was true.

The physical features and developmental delay are the key aspects in the given scenario. The child in question shows features of gross motor and social developmental delay and has physical features indicative of Prader-Willi syndrome (hypopigmentation, esotropia, disproportionately small hands and feet, loss of central muscle tone and undescended testes). Children with Prader-Willi syndrome can present with failure to thrive until ,12-18 months, at which point, hyperphagia and obesity become more prominent. Other options:- Although Klinefelter syndrome can present with delayed development, undescended/small testes and reduced muscle power, the presence of small hands/feet, hypopigmentation and failure to thrive are not characteristic features. – Marfan syndrome presents with different physical features (arachnodactyly, cardio-respiratory complications and skin changes, amongst others) than those associated with Prader-Willi syndrome. – DiGeorge can manifest with developmental delay, hypotonia and feeding difficulties. However, this clinical scenario does not report any of the typical facial features, hearing abnormalities or cardiac abnormalities that are typically caused by DiGeorge syndrome. – Russell-Silver syndrome can cause developmental abnormalities, poor muscle tone and power (poor head control and muscle function), feeding difficulties and poor growth during the post-natal period and infancy. However, characteristic facial (small, triangular face, blue sclerae) and skeletal abnormalities (limb asymmetry, finger abnormalities) are not present. Therefore, Prader-Willi syndrome is the most appropriate diagnosis for this patient.Note:Prader-Willi syndrome is an example of genetic imprinting where the phenotype depends on whether the deletion occurs on a gene inherited from the mother or father: In Prader-Willi syndrome, it is the paternal gene that is deleted from the long arm of chromosome 15, while in Angelman syndrome the maternal gene is deleted. Prader-Willi syndrome can occur due to the microdeletion of paternal 15q11-13 (70% of cases) maternal uniparental disomy of chromosome 15.

This child has pseudo hypoparathyroidism. It is a heterogeneous group of rare endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcaemia, hyperphosphatemia, and increased serum concentration of PTH.Patients with pseudo hypoparathyroidism type 1a present with a characteristic phenotype collectively called Albright hereditary osteodystrophy (AHO). The constellation of findings includes the following:Short statureStocky habitusObesityDevelopmental delayRound faceDental hypoplasiaBrachymetacarpalsBrachymetatarsalsSoft tissue calcification/ossificationThe goals of therapy are to maintain serum total and ionized calcium levels within the reference range to avoid hypercalcaemia and to suppress PTH levels to normal. This is important because elevated PTH levels in patients with PHP can cause increased bone remodelling and lead to hyper-parathyroid bone disease.The goals of pharmacotherapy are to correct calcium deficiency, to prevent complications, and to reduce morbidity. Intravenous calcium is the initial treatment for all patients with severe symptomatic hypocalcaemia. Administration of oral calcium and 1alpha-hydroxylated vitamin D metabolites, such as calcitriol, remains the mainstay of treatment and should be initiated in every patient with a diagnosis of pseudo hypoparathyroidism.

Meconium aspiration syndrome (MAS) refers to breathing problems that a new-born baby may have when: – There are no other causes, and- The baby has passed meconium (stool) into the amniotic fluid during labour or deliveryThe most recent guidelines are as follows:- If the baby is vigorous (defined as having a normal respiratory effort and normal muscle tone), the baby may stay with the mother to receive the initial steps of new-born care. A bulb syringe can be used to gently clear secretions from the nose and mouth.- If the baby is not vigorous (defined as having a depressed respiratory effort or poor muscle tone), place the baby on a radiant warmer, clear the secretions with a bulb syringe, and proceed with the normal steps of new-born resuscitation (i.e., warming, repositioning the head, drying, and stimulating). If, after these initial steps are taken, the baby is still not breathing or the heart rate is below 100 beats per minute (bpm), administer positive pressure ventilation.Resuscitation should follow the same principles for infants with meconium-stained fluid as for those with clear fluidContinued care in the neonatal intensive care unit (NICU):Maintain an optimal thermal environment to minimize oxygen consumption.Minimal handling is essential because these infants are easily agitated. Agitation can increase pulmonary hypertension and right-to-left shunting, leading to additional hypoxia and acidosis. Sedation may be necessary to reduce agitation.An umbilical artery catheter should be inserted to monitor blood pH and blood gases without agitating the infant.Continue respiratory care includes oxygen therapy via hood or positive pressure, and it is crucial in maintaining adequate arterial oxygenation. Mechanical ventilation is required by approximately 30% of infants with MAS. Make concerted efforts to minimize the mean airway pressure and to use as short an inspiratory time as possible. Oxygen saturations should be maintained at 90-95%.Surfactant therapy is commonly used to replace displaced or inactivated surfactant and as a detergent to remove meconium. Although surfactant use does not appear to affect mortality rates, it may reduce the severity of disease, progression to extracorporeal membrane oxygenation (ECMO) utilization, and decrease the length of hospital stay.

Frequent regurgitation of milk and microcytic anaemia is suggestive of a hiatus hernia. The reflux causes regurgitation of milk and frequent ulceration of the lower oesophageal mucosa potentially resulting in blood loss and anaemia. Duodenal atresia usually presents with bilious vomiting and pyloric stenosis presents with projectile vomiting. Alpha 1 antitrypsin deficiency and cystic fibrosis usually do not present with vomiting.

Answer: Curling’s ulcersCurling’s ulcer is an acute gastric erosion resulting as a complication from severe burns when reduced plasma volume leads to ischemia and cell necrosis (sloughing) of the gastric mucosa. The most common mode of presentation of stress ulcer is the onset of acute upper GI bleed like hematemesis or melena in a patient with the acute critical illness. A similar condition involving elevated intracranial pressure is known as Cushing’s ulcer. Cushing’s ulcer is a gastro-duodenal ulcer produced by elevated intracranial pressure caused by an intracranial tumour, head injury or other space-occupying lesions. The ulcer, usually single and deep, may involve the oesophagus, stomach, and duodenum. Increased intracranial pressure may affect different areas of the hypothalamic nuclei or brainstem leading to overstimulation of the vagus nerve or paralysis of the sympathetic system. Both of these circumstances increase secretion of gastric acid and the likelihood of ulceration of gastro-duodenal mucosa.Mallory-Weiss syndrome is characterized by upper gastrointestinal bleeding secondary to longitudinal mucosal lacerations (known as Mallory-Weiss tears) at the gastroesophageal junction or gastric cardia. However, Mallory-Weiss syndrome may occur after any event that provokes a sudden rise in the intragastric pressure or gastric prolapse into the oesophagus, including antecedent transoesophageal echocardiography. Precipitating factors include retching, vomiting, straining, hiccupping, coughing, primal scream therapy, blunt abdominal trauma, and cardiopulmonary resuscitation. In a few cases, no apparent precipitating factor can be identified. One study reported that 25% of patients had no identifiable risk factors.

Tricuspid atresia is the third most common form of cyanotic congenital heart disease, with a prevalence of 0.3-3.7% in patients with congenital heart disease. The deformity consists of a complete lack of formation of the tricuspid valve with the absence of a direct connection between the right atrium and right ventricle.The following 3 considerations guide the treatment of infants with tricuspid atresia:- The amount of pulmonary blood flow must be regulated to decrease hypoxemia or symptoms of congestive heart failure.- Myocardial function, the integrity of the pulmonary vascular bed, and pulmonary vascular integrity must be preserved to optimize conditions for a later Fontan operation.- The risk of bacterial endocarditis and thromboembolism must be minimized.Infants with decreased pulmonary blood flow: encompasses most of the infants with tricuspid atresia.Marked cyanosis and hypoxemia characterize the clinical course. Acidaemia may occur if the hypoxemia is profound, and death can ensue.Promptly treat infants with severe hypoxemia with prostaglandin E infusions to maintain patency of the ductus arteriosus and improve pulmonary blood flow.Infants with increased pulmonary blood flow: These infants have an associated unrestrictive ventricular septal defect and transposed great vessels.They present with severe congestive heart failure and benefit from digitalis and diuretic therapy until an operative intervention can be undertaken to restrict the pulmonary blood flow.

Omega-shaped epiglottis is a characteristic feature in the X-ray of a patient with laryngomalacia.

Colonic Polyposis and neoplasia are often seen in Cowden Syndrome which is a hamartomatous polyposis syndrome. Patients with Cowden syndrome have an increased risk for colorectal cancer.

Meckel’s diverticulum is a true diverticulum and is the most common congenital anomaly of the GI tract, occurring in about 2% of people. It is caused by incomplete obliteration of the vitelline duct and consists of a congenital sacculation of the antimesenteric border of the ileum. Symptoms are uncommon but include lower GI bleeding, bowel obstruction, and inflammation (diverticulitis). Causes of upper GI bleeding in neonates:Swallowed maternal bloodCoagulopathies including haemorrhagic disease of the new-bornStress gastritis & stress ulcersDrugs (NSAIDs, heparin, indomethacin used for patent duct closure, dexamethasone)Causes of upper GI bleeding in children 1 month to 1 year:GORDGastritis (with or without Helicobacter pylori infection)Crohn diseaseDrugs (NSAIDs)Zollinger-Ellison syndromeCauses of upper GI bleeding in children 1 -2 years:Peptic ulcer diseaseZollinger-Ellison syndromeBurns (Curling ulcer)Head trauma (Cushing ulcer)SepsisCauses of upper GI bleeding in older than 2 years:Oesophageal varices secondary to portal hypertension (most commonly portal vein thrombosis and biliary atresia)Duodenal ulcersOesophagitisGastritisMallory-Weiss tears