From the given scenario, the extraocular muscle affected in the child is superior oblique muscle. Point to remember:All of the extraocular muscles are supplied by the oculomotor nerve (3rd cranial nerve), except superior oblique (trochlear nerve/4th cranial nerve) and lateral rectus (abducens nerve/6th cranial nerve).The superior oblique muscle causes the eye to move downwards and medially. The unopposed inferior oblique, in this case, causes the eye to deviate upwards and medially. Children tend to tilt their head (torticollis) to the side opposite to the affected eye with their chin down toward the shoulder, and their face turned away from the affected side to decrease the diplopia.

Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.The signs and symptoms of Gitelman syndrome usually appear in late childhood or adolescence. Common features of this condition include painful muscle spasms (tetany), muscle weakness or cramping, dizziness, and salt craving. Also common is a tingling or prickly sensation in the skin (paraesthesia), most often affecting the face. Some individuals with Gitelman syndrome experience excessive tiredness (fatigue), low blood pressure, and a painful joint condition called chondrocalcinosis. Studies suggest that Gitelman syndrome may also increase the risk of a potentially dangerous abnormal heart rhythm called ventricular arrhythmia.

Based on the clinical scenario, the most probable diagnosis in this patient is Kallmann’s syndrome.Kallmann’s syndrome is due to isolated gonadotrophin-releasing hormone (GnRH) deficiency. It is often inherited in an X-linked recessive manner. Other options:- While Klinefelter’s syndrome is also associated with hypogonadism, the other clinical features of Klinefelter’s are not seen. – Cryptorchidism is ruled out by the presence of testes in the scrotum. – The presentation of the child is not suggestive of mumps orchitis or hyperprolactinaemia.

The presentation is suggestive of nephrotic syndrome. A trial of corticosteroids is the first step in treatment of idiopathic nephrotic syndrome. Diuretics are useful in managing symptomatic oedema. Cyclosporin and cyclophosphamide are indicated in frequently relapsing and steroid dependant disease.

The baby is not clearing CO2 normally despite normal oxygenation so we should increase the delta P. Higher delta P will increase tidal volume and hence CO2 removal.After initial resuscitation and stabilization, the following should be the ventilator settings used:Rate: 30-40/minutePeak inspiratory pressure (PIP) – determined by adequate chest wall movement.An infant weighing less than 1500 grams: 16-28 cm H2O.An infant weighing greater than 1500 grams: 20-30 cm H2O. Positive end expiratory pressure (PEEP): 4 cm of H2O OR 5-6 cm if FiO2 > 0.90.FiO2: 0.4 to 1.0, depending on the clinical situation.Inspiratory time: 0.3-0.5 sec.After 15 to 30 minutes, check arterial blood gases and pH.If the PaO2 or the O2 saturation is below accepted standards, the FiO2 can be raised to a maximum of 1.0. If the PaO2 or O2 saturation is still inadequate, the mean airway pressure can be raised by increasing either the PIP, PEEP, inspiratory time or the rate, leaving inspiratory time constant.If the PaCO2 is elevated, the rate or peak inspiratory pressure can be raised.

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.

A teratoma is a tumour containing tissue elements that are similar to normal derivatives of more than one germ layer. They usually contain skin, hair, teeth and bone tissue and are more common in children, behaving as a benign tumour. After puberty, they are regarded as malignant and can metastasise.

Bone marrow failure syndromes are characterized by the bone marrow’s inability to produce cells of different lineage. They can be classified as those affecting one or two cell lineages or those affecting all three of them. Fanconi syndrome, along with dyskeratosis congenita, is one of the inherited bone marrow failure syndromes that causes pancytopenia. Other inherited disorders affecting hematopoietic lineage include Diamond-Blackfan anaemia, Schwachman-Diamond syndrome, congenital amegakaryocytic thrombocytopenia (CAMT) and Thrombocytopenia absent radii (TAR) syndrome. Acquired causes of bone marrow failure that lead to pancytopenia include aplastic anaemia, drugs, nutritional deficiencies, and viral infections. Kostmann syndrome is an autosomal recessive form of severe neutropenia, most likely due to excessive neutrophil apoptosis.

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

The adult height potential may be calculated for a male child by (father’s height in cm + mother’s height in cm) / 2 then add 7 cm.In the scenario provided: (170 + 150)/2 + 7 = 167 cm = 1.67 m.For a female child by (father’s height in cm + mother’s height in cm) / 2 then minus 7 cm.This can then be plotted on a height centile chart to find the mid-parental centile.Causes of short stature include:- Normal variant (often familial)- Constitutional delay of growth and puberty- Chronic illness, e.g. cystic fibrosis, inflammatory bowel disease- Endocrine: growth hormone deficiency, hypothyroidism, steroid excess syndromes: Turner’s, Down’s, Prader-Willi- Skeletal dysplasias, e.g. achondroplasia

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

While the results of this before and after study can provide some preliminary insight into the effects of the dietary intervention, the results should be viewed with great caution as they may be considered merely anecdotal. The lack of a control group contributes to confounding the data. Therefore, while the difference may be statistically significant and the confidence interval is compatible with a fall in the number of seizures after therapy, the results cannot be introduced as the standard without a control group to compare with.

Homonymous hemianopia (HH) is a visual field defect involving either two right or the two left halves of the visual field of both eye. It results from the damage of the visual pathway in its suprachiasmatic part. The causes of HH include stroke, brain tumours, head injuries, neurosurgical procedures, multiple sclerosis and miscellaneous conditions. HH result in a severe visual impairment and affect a variety of cognitive visual functions. Patients with HH frequently have difficulties with reading and scanning scenes in sufficiently rapid fashion to make sense of things as a whole. They stumble, fall or knock objects in their surroundings, since they cannot see them and they are frequent surprised that somebody or something suddenly appeared in their visual field. The prognosis of visual field deficit recovery is highly variable and depends on the cause and severity of brain nd optic pathway injury.

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.

In the first few years of life the developing sensory inputs are important. Hearing is essential for speech and language development and may be delayed when a child cannot hear. Therefore any child with a family history of hereditary deafness should be screened. From about 4-6months babies are able to laugh and babble when excited or unhappy. By the age of 9 months the child should be able to bring together groups of same sound syllables and be able to say one or two words by the 1st birthday. If a child is unable to babble by 10-12 years, it may indicate hearing impairment. By the age of 2 a child should be able to speak in 1 or 2 word phrases and often repeats phrases used by others, known as Echolalia.

Crigler-Najjar syndrome is a rare genetic disorder characterized by an inability to properly convert and clear bilirubin from the body.The hallmark finding of Crigler-Najjar syndrome is a persistent yellowing of the skin, mucous membranes and whites of the eyes (jaundice).There are two forms of this disorder: Crigler-Najjar syndrome type I, characterized by a nearly complete lack of enzyme activity and severe, even life-threatening symptoms| and Crigler-Najjar syndrome type II, characterized by partial enzyme activity and milder symptoms. Both forms are inherited as autosomal recessive traits and are caused by errors or disruptions (mutations) of the UGT1A1 gene.The symptoms of Crigler-Najjar syndrome type I become apparent shortly after birth. Affected infants develop severe, persistent yellowing of the skin, mucous membranes and whites of the eyes (jaundice). These symptoms persist after the first three weeks of life.Infants are at risk for developing kernicterus, also known as bilirubin encephalopathy, within the first month of life.Crigler-Najjar syndrome type II is a milder disorder than type I. Affected infants develop jaundice, which increases during times when an infant is sick (concurrent illness), has not eaten for an extended period (prolonged fasting) or is under general anaesthesia. Some people have not been diagnosed until they are adults. Kernicterus is rare in Crigler-Najjar syndrome type II, but can occur especially when an affected individual is sick, not eating or under anaesthesia

The child has Chronic suppurative otitis media (CSOM) which is defined as a perforated tympanic membrane with persistent drainage from the middle ear for more than 2-6 weeks.CSOM differs from chronic serous otitis media in that chronic serous otitis media may be defined as a middle ear effusion without perforation that is reported to persist for more than 1-3 months. Patients with chronic suppurative otitis media (CSOM) present with a draining ear of some duration and a premorbid history of recurrent acute otitis media, traumatic perforation, or the placement of ventilation tubes. Typically, they deny pain or discomfort. A common presenting symptom is hearing loss in the affected ear. Reports of fever, vertigo, and pain should raise concerns about infratemporal or intracranial complications. A history of persistent CSOM after appropriate medical treatment should alert the physician to consider cholesteatoma.The external auditory canal may or may not be oedematous and is not typically tender. The discharge varies from fetid, purulent, and cheese like to clear and serous. Granulation tissue is often seen in the medial canal or middle ear space. The middle ear mucosa visualized through the perforation may be oedematous or even polypoid, pale, or erythematous.

Answer: Transposition of the great arteriesTransposition of the great arteries (TGA) is the most common cyanotic congenital heart lesion that presents in neonates. The hallmark of transposition of the great arteries is ventriculoarterial discordance, in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.Infants with transposition of the great arteries (TGA) are usually born at term, with cyanosis apparent within hours of birth.The clinical course and manifestations depend on the extent of intercirculatory mixing and the presence of associated anatomic lesions. Note the following:Transposition of the great arteries with intact ventricular septum: Prominent and progressive cyanosis within the first 24 hours of life is the usual finding in infants if no significant mixing at the atrial level is evident.Transposition of the great arteries with large ventricular septal defect: Infants may not initially manifest symptoms of heart disease, although mild cyanosis (particularly when crying) is often noted. Signs of congestive heart failure (tachypnoea, tachycardia, diaphoresis, and failure to gain weight) may become evident over the first 3-6 weeks as pulmonary blood flow increases.Transposition of the great arteries with ventricular septal defect and left ventricular outflow tract obstruction: Infants often present with extreme cyanosis at birth, proportional to the degree of left ventricular (pulmonary) outflow tract obstruction. The clinical history may be similar to that of an infant with tetralogy of Fallot.Transposition of the great arteries with ventricular septal defect and pulmonary vascular obstructive disease: Progressively advancing pulmonary vascular obstructive disease can prevent this rare subgroup of patients from developing symptoms of congestive heart failure, despite a large ventricular septal defect. Most often, patients present with progressive cyanosis, despite an early successful palliative procedure.

Classic Kallmann syndrome (KS) is due to isolated hypogonadotropic hypogonadism. Most patients have gonadotropin-releasing hormone (GnRH) deficiency, as suggested by their response to pulsatile GnRH therapy. The hypothalamic-pituitary function is otherwise normal in most patients, and hypothalamic-pituitary imaging reveals no space-occupying lesions. By definition, either anosmia or severe hyposmia is present in patients with Kallmann syndrome.

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

At 7 months, children are expected to sit briefly leaning forward on their hands, reach and grasp objects, transfer objects from hand to hand, and babble. Children are usually expected to wave goodbye or grasp objects with their fingers or thumb at around 10 months and older.

The femoral nerve is the main nerve supply for the thigh muscles including the pectineus, iliacus, sartorius, which flex the hip| and the quadriceps femoris made up of the rectus femoris, vests laterals, vastus medialis and vastus intermedius, which extend the knee. The nerve is derived from the L2, L3 and L4 nerve roots, and supplies cutaneous branches to the anteromedial thigh and the medial side of the leg via the saphenous nerve.

Ebstein’s anomaly is characterised by apical displacement and adherence of the septal and posterior leaflets of the tricuspid valve to the underlying myocardium, thereby displacing the functional tricuspid orifice apically and dividing the right ventricle into two portions. The main haemodynamic abnormality leading to symptoms is tricuspid valve incompetence. The clinical spectrum is broad| patients may be asymptomatic or experience right-sided heart failure, cyanosis, arrhythmias and sudden cardiac death (SCD). Many Ebstein’s anomaly patients have an interatrial communication (secundum atrial septal defect (ASD II) or patent foramen ovale). Other structural anomalies may also be present, including a bicuspid aortic valve (BAV), ventricular septal defect (VSD), and pulmonary stenosis. The morphology of the tricuspid valve in Ebstein anomaly, and consequently the clinical presentation, is highly variable. The tricuspid valve leaflets demonstrate variable degrees of failed delamination (separation of the valve tissue from the myocardium) with fibrous attachments to the right ventricular endocardium.The displacement of annular attachments of septal and posterior (inferior) leaflets into the right ventricle toward the apex and right ventricular outflow tract is the hallmark finding of Ebstein anomaly.

Because the medical history included tonsillitis followed by haematuria and hypertension, there is a strong suspicion of a case of post-streptococcal glomerulonephritis (PSGN). Patients with PSGN usually have serological findings showing depressed serum haemolytic component CH50 and serum concentrations of C3. Sometimes depressed C4 levels are also apparent, but not always, therefore, the answer to this question is: depressed CH50 level.

Insertion sites and sensor sites should be rotated each time the infusion set or glucose sensor is changed. This keeps the tissue healthy and allows previous sites to completely heal before reusing them. Change infusion set every 2 to 3 days to help prevent infection.

Measles and chickenpox are spread by droplets. Thus, patients should be isolated. Rheumatic fever and post-streptococcal glomerulonephritis are immune mediated diseases that don’t require isolation. Herpetic gingivostomatitis spreads by direct transmission of infected secretions to the stratified squamous epithelium. HSP is not an infectious disease.

In this case, the affected individuals are all heterozygotes. Therefore, the mutation is autosomal dominant. Also, the mother does not carry the mutation, further confirming the autosomal dominant nature of the disease, which is most probably achondroplasia.

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

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

An odds ratio (OR) is a measure of the association between an exposure and an outcome. The OR represents the odds that an outcome will occur given a particular exposure, compared to the odds of the outcome occurring in the absence of that exposure. Odds ratios are most commonly used in case-control studies, however they can also be used in cross-sectional and cohort study designs as well (with some modifications and/or assumptions). Wherea = Number of exposed casesb = Number of exposed non-casesc = Number of unexposed casesd = Number of unexposed non-casesOR=(a/c) / (b/d) = ad/bc