Vesicoureteral reflux is a common disorder in children but can result in kidney scarring following acute pyelonephritis. The gold standard diagnostic test to detect renal scars in children is 99mTc-dimercaptosuccinic acid (DMSA) scintigraphy

This patient has Wilson’s disease. They Kayser-Fleischer ring (ring that encircles the iris) is diagnostic of this. Low serum copper is seen in Wilson’s disease. With the Kayser-Fleischer ring, this makes all of the other answer choices incorrect.

Clinical diagnosis of neurofibromatosis type 1 requires the presence of at least 2 of 7 criteria. Many of these signs do not appear until later childhood or adolescence, and thus confirming the diagnosis often is delayed despite a suspicion of NF1. The 7 clinical criteria used to diagnose NF1 are as follows:- Six or more café-au-lait spots or hyperpigmented macules greater than 5 mm in diameter in prepubertal children and greater than 15 mm in postpubertal- Axillary or inguinal freckles (>2) – Two or more typical neurofibromas or one plexiform neurofibroma- Optic nerve glioma- Two or more iris hamartomas (Lisch nodules), often identified only through slit-lamp examination by an ophthalmologist- Sphenoid dysplasia or typical long-bone abnormalities such as pseudarthrosis- A first-degree relative (e.g., mother, father, sister, brother) with NF1

NICE does not recommend the use of antibiotics or tonsillectomy in this case. Paracetamol/Ibuprofen are indicated as they provide antipyretic action and analgesia. Indications for tonsillectomy are 5 or more episodes of acute sore throat/year, symptoms present for at least 2 years, symptoms are severe enough to disrupt a child’s social life. Indications for antibiotics are features of marked systemic upset secondary to the acute sore throat, unilateral peritonsillitis, history of rheumatic fever, an increased risk from acute infection, acute tonsillitis with 3 or more of the following: history of fever, tonsillar exudates, no cough and tender anterior cervical lymphadenopathy.

Aplastic anaemia causes a deficiency of all blood cell types: red blood cells, white blood cells, and platelets. It is more frequent in people in their teens and twenties, but is also common among the elderly. It can be caused by heredity, immune disease, or exposure to chemicals, drugs, or radiation. However, in about one-half of cases, the cause is unknown.The definitive diagnosis is by bone marrow biopsy| normal bone marrow has 30–70% blood stem cells, but in aplastic anaemia, these cells are mostly gone and replaced by fat.First-line treatment for aplastic anaemia consists of immunosuppressive drugs, typically either anti-lymphocyte globulin or anti-thymocyte globulin, combined with corticosteroids, chemotherapy and ciclosporin. Hematopoietic stem cell transplantation is also used, especially for patients under 30 years of age with a related matched marrow donor.

The most probable diagnosis for this patient would be a duplex kidney with an ectopic ureter inserting below the bladder neck. Rationale: The Weigert-Myer law states that the upper moiety ureter inserts inferior and medial to the lower moiety ureter. Other options:- Horseshoe kidney would display as a single pelvic kidney on an ultrasound scan.- Ureterocele would be a cystic lesion within the bladder or may prolapse at birth. – Continence should not be affected by polycystic kidney disease. – The overactive bladder would cause frequency and urgency, neither of which is mentioned in the history.

A case–control study (also known as case–referent study) is a type of observational study in which two existing groups differing in outcome are identified and compared on the basis of some supposed causal attribute. Case–control studies are often used to identify factors that may contribute to a medical condition by comparing subjects who have that condition/disease (the cases) with patients who do not have the condition/disease but are otherwise similar (the controls).
An odds ratio (OR) is a statistic that quantifies the strength of the association between two events, A and B. The odds ratio is defined as the ratio of the odds of A in the presence of B and the odds of A in the absence of B or vice versa.

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.

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

18-month-old milestonesSocial and EmotionalLikes to hand things to others as play May have temper tantrums May be afraid of strangers Shows affection to familiar people Plays simple pretend, such as feeding a doll May cling to caregivers in new situations Points to show others something interesting Explores alone but with parent close by Language/CommunicationSays several single words Says and shakes head “no” Points to show someone what he wants Cognitive (learning, thinking, problem-solving)Knows what ordinary things are for| for example, telephone, brush, spoon Points to get the attention of others Shows interest in a doll or stuffed animal by pretending to feed Points to one body part Scribbles on his own Can follow 1-step verbal commands without any gestures| for example, sits when you say “sit down” Movement/Physical DevelopmentWalks alone May walk up steps and run Pulls toys while walking Can help undress herself Drinks from a cup Eats with a spoon

Neonatal hyperbilirubinemia is a common clinical condition and can be categorized as conjugated and unconjugated hyperbilirubinemia. Conjugated hyperbilirubinemia results from obstructive or hepatocellular causes mainly. The causes of conjugated hyperbilirubinemia include inborn errors of metabolism like galactosemia and aminoaciduria, obstruction from choledochal cysts, and biliary atresia. Long term TPN also leads to conjugated hyperbilirubinemia. Spherocytosis is a hereditary condition belonging to the group of haemolytic anaemias, resulting from plasma membrane protein deficiency. This defect of the RBC plasma membrane decreases their life span, making them osmotically fragile and prone to haemolysis. This leads to an increase in the unconjugated bilirubin levels, with a risk of developing kernicterus.

Answer: Bochdalek herniaA Bochdalek hernia is one of two forms of a congenital diaphragmatic hernia, the other form being Morgagni hernia. A Bochdalek hernia is a congenital abnormality in which an opening exists in the infant’s diaphragm, allowing normally intra-abdominal organs (particularly the stomach and intestines) to protrude into the thoracic cavity. In the majority of patients, the affected lung will be deformed, and the resulting lung compression can be life-threatening. Bochdalek hernias occur more commonly on the posterior left side (85%, versus right side 15%).In normal Bochdalek hernia cases, the symptoms are often observable simultaneously with the baby’s birth. A few of the symptoms of a Bochdalek Hernia include difficulty breathing, fast respiration and increased heart rate. Also, if the baby appears to have cyanosis (blue-tinted skin) this can also be a sign. Another way to differentiate a healthy baby from a baby with Bochdalek Hernia, is to look at the chest immediately after birth. If the baby has a Bochdalek Hernia it may appear that one side of the chest cavity is larger than the other and or the abdomen seems to be scaphoid (caved in).Situs inversus (also called situs transversus or oppositus) is a congenital condition in which the major visceral organs are reversed or mirrored from their normal positions. The normal arrangement of internal organs is known as situs solitus while situs inversus is generally the mirror image of situs solitus. Although cardiac problems are more common than in the general population, most people with situs inversus have no medical symptoms or complications resulting from the condition, and until the advent of modern medicine it was usually undiagnosed. In the absence of congenital heart defects, individuals with situs inversus are homeostatically normal, and can live standard healthy lives, without any complications related to their medical condition. There is a 5–10% prevalence of congenital heart disease in individuals with situs inversus totalis, most commonly transposition of the great vessels. The incidence of congenital heart disease is 95% in situs inversus with levocardia.Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time. In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. When the protein is not working correctly, it’s unable to help move chloride — a component of salt — to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky. In the lungs, the mucus clogs the airways and traps germs, like bacteria, leading to infections, inflammation, respiratory failure, and other complications. Necrotizing enterocolitis (NEC) is a medical condition where a portion of the bowel dies. It typically occurs in new-borns that are either premature or otherwise unwell. Symptoms may include poor feeding, bloating, decreased activity, blood in the stool, or vomiting of bile.The exact cause is unclear. Risk factors include congenital heart disease, birth asphyxia, exchange transfusion, and premature rupture of membranes. The underlying mechanism is believed to involve a combination of poor blood flow and infection of the intestines. Diagnosis is based on symptoms and confirmed with medical imaging.Morgagni hernias are one of the congenital diaphragmatic hernias (CDH), and is characterized by herniation through the foramen of Morgagni. When compared to Bochdalek hernias, Morgagni hernias are:-anterior-more often right-sided (,90%)-small-rare (,2% of CDH)-at low risk of prolapseOnly ,30% of patients are symptomatic. New-borns may present with respiratory distress at birth similar to a Bochdalek hernia. Additionally, recurrent chest infections and gastrointestinal symptoms have been reported in those with previously undiagnosed Morgagni hernia.The image of the transverse colon is herniated into the thoracic cavity, through a mid line defect and this indicates that it is a Morgagni hernia since the foramen of a Morgagni hernia occurs in the anterior midline through the sternocostal hiatus of the diaphragm, with 90% of cases occurring on the right side.Clinical manifestations of congenital diaphragmatic hernia (CDH) include the following:Early diagnosis – Right-side heart| decreased breath sounds on the affected side| scaphoid abdomen| bowel sounds in the thorax, respiratory distress, and/or cyanosis on auscultation| CDH can often be diagnosed in utero with ultrasonography (US), magnetic resonance imaging (MRI), or bothLate diagnosis – Chest mass on chest radiography, gastric volvulus, splenic volvulus, or large-bowel obstructionCongenital hernias (neonatal onset) – Respiratory distress and/or cyanosis occurs within the first 24 hours of life| CDH may not be diagnosed for several years if the defect is small enough that it does not cause significant pulmonary dysfunctionCongenital hernias (childhood or adult onset) – Obstructive symptoms from protrusion of the colon, chest pain, tightness or fullness the in chest, sepsis following strangulation or perforation, and many respiratory symptoms occur.

The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21.Currently, most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ).The main clinical features include prenatal growth deficiency, characteristic craniofacial features (dolichocephaly, short palpebral fissures, micrognathia external anomalies of the ears, and redundant skin at the back of the neck), distinctive hand posture (overriding fingers: index finger overlapping the third and 5th finger overlapping the 4th), nail hypoplasia, short hallux, underdeveloped thumbs, short sternum, and club feet and major malformations (particularly involving the heart).

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.

Answer: Surveillance annual flexible sigmoidoscopy from age 13 years until age 30 years. Familial adenomatous polyposis (FAP) is the most common adenomatous polyposis syndrome. It is an autosomal dominant inherited disorder characterized by the early onset of hundreds to thousands of adenomatous polyps throughout the colon. If left untreated, all patients with this syndrome will develop colon cancer by age 35-40 years. In addition, an increased risk exists for the development of other malignancies.Most patients with FAP are asymptomatic until they develop cancer. As a result, diagnosing presymptomatic patients is essential.Of patients with FAP, 75%-80% have a family history of polyps and/or colorectal cancer at age 40 years or younger.Nonspecific symptoms, such as unexplained rectal bleeding (haematochezia), diarrhoea, or abdominal pain, in young patients may be suggestive of FAP.In a minority of FAP families a mutation cannot be identified and so annual flexible sigmoidoscopy should be offered to at risk family members from age 13–15 years until age 30, and at three to five year intervals thereafter until age 60 years.

Minimal change disease is a type of glomerulonephritis that mostly affects younger children. Proteinuria is present which leads to body oedema. But in these patients blood pressure is normal.

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.

The Chi-squared test evaluates if two variables are related. The other statistical tests mentioned do not perform this function.

Torsade de pointes is an uncommon and distinctive form of polymorphic ventricular tachycardia (VT) characterized by a gradual change in the amplitude and twisting of the QRS complexes around the isoelectric line.Conditions associated with torsade include the following:Electrolyte abnormalities – Hypokalaemia, hypomagnesemia, hypocalcaemiaEndocrine disorders – Hypothyroidism, hyperparathyroidism, pheochromocytoma, hyperaldosteronism, hypoglycaemiaCardiac conditions – Myocardial ischemia, myocardial infarction, myocarditis, bradyarrhythmia, complete atrioventricular (AV) block, takotsubo cardiomyopathyIntracranial disorders – Subarachnoid haemorrhage, thalamic hematoma, cerebrovascular accident, encephalitis, head injuryNutritional disorders – Anorexia nervosa, starvation, liquid protein diets, gastroplasty and ileojejunal bypass, celiac diseaseRisk factors for torsade include the following:Congenital long QT syndromeFemale genderAcquired long QT syndrome (causes of which include medications and electrolyte disorders such as hypokalaemia and hypomagnesemia)BradycardiaBaseline electrocardiographic abnormalitiesRenal or liver failure

Patients with HIV have a deficiency of CD4 lymphocytes which are also known as helper T cells (Th). They are involved with antigen-specific responses as well as delayed-type hypersensitivity. The risk of developing P. jiroveci pneumonia is greatest with a CD4 count of 200 x 109/l or below.

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.

Hypospadias is an abnormality of anterior urethral and penile development. The urethral opening is located on the ventral aspect of the penis proximal to the tip of the glans penis, which, in this condition, is open. The urethral opening may be located as proximal as in the scrotum or perineum. The penis may also have associated ventral shortening and curvature, called chordee, with more proximal urethral defects.

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

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.

This is the clinical picture of dermatitis herpetiformis associated with gluten-sensitive enteropathy. To establish the diagnosis, you should measure the coeliac antibodies. Darrier’s sign (where the skin urticates when it is stroked) is positive in urticaria pigmentosa.

Lamotrigine does not significantly increase risk of birth defects during pregnancy.

Foreign body aspiration (FBA) commonly occurs in children aged 1–3 years. FBA typically presents with sudden onset of coughing and choking, followed by stridor and dyspnoea. Obstruction of the larynx or trachea is a potentially life-threatening situation that causes severe respiratory distress, cyanosis, and suffocation. Most commonly, the foreign body (FB) becomes lodged in the main and intermediate bronchi| approx. 60% of FB are located in the right main bronchus due to the more vertical orientation compared to the left main bronchus. Reduced breath sounds on the one side only would not be explained by a tracheal obstruction as it would cause reduced breath sounds bilaterally and a more severe clinical picture.

The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21.Currently, most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ).The main clinical features represent the clues for the diagnosis in the perinatal period and include prenatal growth deficiency, characteristic craniofacial features (dolichocephaly, short palpebral fissures, micrognathia external anomalies of the ears, and redundant skin at the back of the neck), distinctive hand posture (overriding fingers: index finger overlapping the third and 5th finger overlapping the 4th), nail hypoplasia, short hallux, underdeveloped thumbs, short sternum, and club feet and major malformations (particularly involving the heart).

Hypopigmentation refers to a decrease in the amount of the pigment melanin in the skin, which leads to an abnormally lighter skin tone. Hypopigmentation can be generalized or localized. Generalized hypopigmentation occurs in albinism or can be ethnicity related. Causes of localized hypopigmentation include Incontinentia pigmenti, Lichen planus, Tuberous sclerosis, Piebaldism, vitiligo, and leprosy. Celiac disease is not associated with hypopigmentation.

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.