People with Systemic Juvenile Idiopathic Arthritis (also known as Stills disease) can have recurrent fevers, a macular rash, joint pain, joint deformities, an enlarged liver and/or spleen, and can occasionally have polyserositis, lung involvement or pericardial effusions. Rheumatoid factor and antinuclear antibodies are usually negative. Treatment is with non-steroidal anti-inflammatory drugs (NSAIDs) and the prognosis is better than for adult rheumatoid arthritis.In pauciarticular Still’s disease, antinuclear antibodies are present. Large joints are affected and most patients develop classic features of seronegative spondylarthritis.

Answer: Acute Epstein Barr virus infectionThe Epstein-Barr virus is one of eight known human herpesvirus types in the herpes family, and is one of the most common viruses in humans. Infection with Epstein-Barr virus (EBV) is common and usually occurs in childhood or early adulthood.EBV is the cause of infectious mononucleosis, an illness associated with symptoms and signs like:fever,fatigue,swollen tonsils,headache, andsweats,sore throat,swollen lymph nodes in the neck, andsometimes an enlarged spleen.Although EBV can cause mononucleosis, not everyone infected with the virus will get mononucleosis. White blood cells called B cells are the primary targets of EBV infection.

The recurrent laryngeal nerve (RLN) innervates all of the intrinsic muscles of the larynx except for the cricothyroid muscle, which is innervated by the superior laryngeal nerve (SLN).Patients with unilateral vocal fold paralysis present with postoperative hoarseness or breathiness. The presentation is often subacute. At first, the vocal fold usually remains in the paramedian position, creating a fairly normal voice. Definite vocal changes may not manifest for days to weeks. The paralyzed vocal fold atrophies, causing the voice to worsen. Other potential sequelae of unilateral vocal-fold paralysis are dysphagia and aspiration.Bilateral vocal-fold paralysis may occur after total thyroidectomy, and it usually manifests immediately after extubation. Both vocal folds remain in the paramedian position, causing partial airway obstruction. Patients with bilateral vocal-fold paralysis may present with biphasic stridor, respiratory distress, or both. On occasion, the airway is sufficient in the immediate postoperative period despite the paralyzed vocal folds. At follow-up, such patients may present with dyspnoea or stridor with exertion.

The cells in the testes that secrete testosterone are the Leydig cells.Other cells in testes include:- Spermatogonia: These are undifferentiated male germ cells which undergo spermatogenesis in the seminiferous tubules of the testes.- Sertoli cells: They are a part of the seminiferous tubule of the testes, cells are activated by FSH and nourish developing sperm cells.- Myoid: They are squamous contractile cells which generate peristaltic waves, they surround the basement membrane of testes.- Fibroblasts: Cells which synthesise collagen and the extracellular matrix.

The sign being elicited in this patient is Nikolsky’s sign. Based on the findings, the patient is suffering from toxic epidermal necrolysis.Nikolskys sign: Rubbing the skin causes exfoliation of the outer layer and usually blistering within a few minutes. Other options:- Cullen’s sign: Periumbilical bruising due to intra-abdominal haemorrhage. If the discolouration is seen in the flanks, it is called Cullen’s sign. Underlying pathology includes ruptured ectopic pregnancy and haemorrhagic pancreatitis. – Forscheimer’s sign: It is a fleeting exanthem that is seen as small, red spots (petechiae) on the soft palate. Associated with rubella and glandular fever. Gorlin’s sign: It is the ability to touch the tip of the nose with the tongue. Increased incidence in children with connective tissue disorders, e.g. Ehler Danlos syndrome. – Auspitzs sign: These are small bleeding points left behind when psoriatic scales are lifted off. It is not a very sensitive or specific sign. Other cutaneous signs include:- Hair collar sign: It is a collar of hypertrichosis around an area of cranial dysraphism.- Hertoghe’s sign (Queen Anne’s sign): It is the loss of lateral one-third of eye-brows. It is associated with numerous conditions, including lupus, HIV, and hypothyroidism. – Dariers sign: It is the swelling, itching and erythema that occurs after stroking skin lesions of a patient with systemic mastocytosis or urticarial pigmentosa. – Dermatographism: Rubbing the skin causes a raised, urticarial lesion. – Koebners phenomenon: It is the appearance of new skin lesions in areas of trauma.- Breakfast, lunch, and dinner sign: Linear pathway of a group of three to five papules caused by the common bed bug, Cimex lectularius. – Buttonhole sign: In type 1 neurofibromatosis, neurofibromas can be invaginated with the finger back into the subcutis. The nodule will reappear after the release of pressure. The sign is also positive for dermatofibromas. – Crowe’s sign: Axillary freckling seen in type I neurofibromatosis.

Renal scaring resulting from urinary tract infections can best be determined using Dimercaptosuccinic acid (DMSA) scintigraphy. The scan utilises technetium-99 mixed with the DMSA which is injected into the bloodstream. The radiological dye is taken up by the kidney where it binds to the proximal convoluted tubules. It therefore detects the size, shape and position of the kidney and any scars but is not as useful in assessing dynamic renal excretion. Ultrasound scans are better suited to assess hydronephrosis and dilated ureters. MAG3 scans and MCUG are able to determine the function of kidneys and detect obstructions such as posterior urethral valves and reflux.

Not being able to form a sentence at the age of 18 months is quite normal. A combination of two words to form a sentence can be done by 2 years of age.

The most probable diagnosis for this patient would be Crohn’s disease.Crohn’s disease:An inflammatory bowel disease which can affect any part of the bowel from the mouth to the anus. Symptoms include abdominal pain, diarrhoea, pyrexia and weight loss. Extra-intestinal manifestations include arthritis, uveitis, fatigue, anaemia and rashes including pyoderma gangrenosum and erythema nodosum.Other options:- Anorexia nervosa is an important diagnosis to consider. There are no indicators in the description that she has a fear of gaining weight or a strong desire to be thin.- Diabetic ketoacidosis is incorrect because there is no polydipsia or polyuria. A patient in DKA is more likely to present with vomiting and not diarrhoea.- Recurrent aphthous stomatitis is not a correct answer because it does not explain all of the symptoms described, only the mouth ulcers.- Ulcerative colitis (UC) is also incorrect. UC is a form of inflammatory bowel disease that causes inflammation in the colon. The main symptom is bloody stools, which is not mentioned as a feature in history.

The antiretroviral agent for the side effects mentioned is most probably, efavirenz.Efavirenz is a non-nucleoside reverse transcriptase inhibitor and the most likely cause of new-onset psychiatric symptoms in someone taking HAART. In this scenario the patient had no pre-existing mental health problems, as other antiretrovirals can cause depression and suicidal ideation in those who have a past psychiatric history. Symptoms usually subside after a few weeks of treatment.Other options:- Emtricitabine is a nucleoside reverse transcriptase inhibitor and is also not known to cause psychiatric side effects. The most common side effects of Emtricitabine are rash and darkening of the palms or soles.- Lamivudine is a nucleoside reverse transcriptase inhibitor, which can cause insomnia, but does not commonly cause other psychiatric symptoms.- Rilpivirine is a non-nucleoside reverse transcriptase inhibitor, which can cause depression. However, this is more common in those with a history of mental health problems.- Tenofovir is a nucleotide reverse transcriptase inhibitor. The most common side effect of Tenofovir is gastrointestinal upset. It is not known to cause psychiatric side effects.

Based on the clinical scenario, the most likely underlying pathogen is the Epstein Barr virus (EBV).An Epstein Barr virus (EBV) infection most commonly results in upper respiratory tract symptoms with fever and sore throat. Lymphadenopathy is frequently palpable on examination. Splenomegaly may also occur, and for this reason, patients diagnosed with glandular fever should be advised to avoid contact sports for one month following diagnosis. The presence of petechiae on the soft palate is also associated with EBV infection. The vast majority of patients with active EBV infection will develop a widespread rash if given amoxicillin, therefore, phenoxymethylpenicillin (Penicillin V) is recommended for the treatment of a suspected bacterial throat infection to prevent this complication occurring for individuals who have EBV infection.Other options:- Coronavirus: This is one of the causes of the common cold and is frequently responsible for sore throats; however, in this case, the presenting features are more suggestive of an EBV infection.- Group A Streptococcus: Streptococci are classified into two main groups; alpha-haemolytic and beta-haemolytic. Group A Streptococcus belongs to the beta-haemolytic group. Group A streptococcal infection is a common cause of bacterial tonsillitis. It is possible that the child, in this case, had streptococcal tonsillitis and has had a drug reaction to the amoxicillin. However her age, flu-like symptoms and petechiae on her palate all point to an EBV infection and amoxicillin resulting in a rash.- Parainfluenza: Parainfluenza viruses are one of many causes of the common cold and can cause pharyngitis. They are the leading cause of viral croup.- Rhinovirus: Rhinoviruses are one of many causes of the common cold and are frequently responsible for sore throats; however, in this case, are other factors suggesting EBV infection.

Congenital hypothyroidism is one of the most important diseases of the new-born, which may lead to mental and physical retardation when treatment is delayed or an appropriate dosage of thyroxine is not administered. The most alarming and earliest sign is jaundice, especially when it is prolonged, during the neonatal period.

Certain lesions present on x-ray are suggestive of child abuse including rib, humerus and skull fractures. It is the doctors responsibility to follow up on these cases to determine whether domestic abuse has occurred.

Tetralogy of Fallot (TOF), a congenital heart defect, includes the following: right ventricular hypertrophy, ventricular septal defect, abnormal position of the aorta and pulmonary valve stenosis. The O2 saturation in patients with TOF is typically lower than normal and the condition usually becomes symptomatic early in life. A feature of the disease with high diagnostic significance is squatting or crouching of the infant as a compensatory mechanism to increase the peripheral vascular resistance.

Cytomegalovirus (CMV) is the most frequent cause of congenital infection worldwide, with an estimated incidence in developed countries of 0.6-0.7% of all live births.The clinical spectrum of congenital CMV infection varies widely, from the complete absence of signs of infection (asymptomatic infection) to potentially life-threatening disseminated disease. At birth, 85-90% of infected infants are asymptomatic, and 10-15% present with clinical apparent infection (symptomatic disease).The presentation in this latter group is a continuum of disease expression whose more common findings are petechiae, jaundice, hepatomegaly, splenomegaly, microcephaly, and other neurologic signs.

Angelman syndrome is a rare genetic and neurological disorder caused by deletion or abnormal expression of the UBE3A gene and characterized by severe developmental delay and learning disabilities; absence or near absence of speech; inability to coordinate voluntary movements (ataxia); tremulousness with jerky movements of the arms and legs and a distinct behavioural pattern characterized by a happy disposition and unprovoked episodes of laughter and smiling. Although those with the syndrome may be unable to speak, many gradually learn to communicate through other means such as gesturing. In addition, children may have enough receptive language ability to understand simple forms of language communication. Additional symptoms may occur including seizures, sleep disorders and feeding difficulties. Some children with Angelman syndrome may have distinctive facial features but most facial features reflect the normal parental traits.

Haemolytic disease of the new-born due to ABO incompatibility is usually less severe than Rh incompatibility. One reason is that fetal RBCs express less of the ABO blood group antigens compared with adult levels. In addition, in contrast to the Rh antigens, the ABO blood group antigens are expressed by a variety of fetal (and adult) tissues, reducing the chances of anti-A and anti-B binding their target antigens on the fetal RBCs.ABO HDN occurs almost exclusively in the offspring of women of blood group O, although reports exist of occasional cases in group A mothers with high-titre anti-(group B) IgG

Alpha-fetoprotein (AFP) is a plasma protein produced by the embryonic yolk sac and the fetal liver. AFP levels in serum, amniotic fluid, and urine functions as a screening test for congenital disabilities, chromosomal abnormalities, as well as some other adult occurring tumours and pathologies.Pregnant maternal serum AFP levels are elevated in:- Neural tube defects (e.g., spina bifida, anencephaly)- Omphalocele- Gastroschisis- posterior urethral valves- nephrosis- GI obstruction- teratomas

Randomization is one of the ethical protocols for research work, involving unbiased sample selection. Consent is required before undertaking any research and is taken for the complete research work at once. No separate consent is required for the process of randomization. The consent should explain each and every aspect of the study, including details about the process of randomization. Only particular study designs, like Zelen design, permit the avoidance of consent to randomization but these studies have their setbacks.

Perforated appendices are common in children as it is more difficult to surgically assess an unwell child due to poor localisation of abdominal pain, and their inability to express discomfort. They are therefore prone to a greater risk of post operative complications including would infections, intra abdominal fluid collections, and chest infections. In the above scenario the spiking temperature points to an abscess, which characteristically presents with a swinging temperature. The fever is unlikely due to bacterial resistance as blood tests performed post surgery would have indicated any resistance, and a UTI is also unlikely since the child is already on antibiotics. As his chest is clinically clear, a severe chest infection may be ruled out, leaving intra-abdominal collection as the most likely explanation.

Fanconi anaemia, a rare autosomal recessive condition, presents with congenital abnormalities and defective hemopoiesis. Clinical signs include pallor and bruising. Hypoplasia of the thumbs and radial hypoplasia are two of the most common congenital abnormalities. Conductive deafness is also common. Those with Fanconi anaemia have a higher risk for developing acute myeloid leukaemia.

Juvenile angiofibroma (JA) is a rare benign vascular lesion of the skull base that affects young adolescent males. The management of JA is challenged by the abundant vascular blood supply of the lesion, along with the complex anatomy of the skull base and the young age of the affected population. JA typically affects the male population, most commonly between 9 and 19 years of age. The most frequent symptoms are nasal obstruction and epistaxis. Nasal obstruction may be bilateral despite the unilaterality of the lesion, due to nasopharyngeal extension as well as deviation of the nasal septum by the expansile lesion. Epistaxis is usually brisk and intermittent. Purulent nasal discharge and facial pain can be due to sinus drainage pathway obstruction, and conductive hearing loss indicates obstruction of the eustachian tube.

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.

Laxatives have been shown to be beneficial in the treatment of chronic childhood constipation. Studies have shown that polyethylene glycol, mineral oil, magnesium hydroxide, and lactulose are effective and can be used for a prolonged periods without risk.

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.

The boy presented with mild hypoglycaemia and should be managed at home with fast-acting carbs. He should not sleep immediately. His parents should monitor his blood glucose every hour without letting him sleep in between.

Bacterial meningitis (including meningococcal meningitis, Haemophilus influenzae meningitis, and staphylococcal meningitis) is a neurologic emergency that is associated with significant morbidity and mortality. Initiation of empiric antibacterial therapy is therefore essential for better outcomes. The patient appears to be suffering from meningitis caused by Staphylococcus aureus. Methicillin would be the drug of choice . It is bactericidal and unlike streptomycin and chloramphenicol it is not associated with toxicity

Syphilis is an infectious venereal disease caused by the spirochete Treponema pallidum. Syphilis is transmissible by sexual contact with infectious lesions, from mother to foetus in utero, via blood product transfusion, and occasionally through breaks in the skin that come into contact with infectious lesions. If untreated, it progresses through 4 stages: primary, secondary, latent, and tertiary. Primary and secondary syphilis are easy to treat with a penicillin injection. Penicillin is one of the most widely used antibiotics and is usually effective in treating syphilis. People who are allergic to penicillin will likely be treated with a different antibiotic, such as:doxycyclineazithromycinceftriaxone

Sturge-Weber syndrome (SWS), also called encephalotrigeminal angiomatosis, is a neurocutaneous disorder with angiomas that involve the leptomeninges (leptomeningeal angiomas [LAs]) and the skin of the face, typically in the ophthalmic (V1) and maxillary (V2) distributions of the trigeminal nerve. The hallmark of SWS is a facial cutaneous venous dilation, also referred to as a nevus flammeus or port-wine stain (PWS).Signs and symptoms:SWS is generally diagnosed clinically, based on the typical cutaneous, central nervous system (CNS), and ocular abnormalities associated with it.Neurological signs include the following:Developmental delay/intellectual disabilityLearning problemsAttention deficit-hyperactivity disorderInitial focal seizures progressing to frequent, secondarily generalized seizuresIncreasing seizure frequency and duration despite the use of antiepileptic drugs (AEDs)Increasing duration of a transient postictal deficitIncrease in focal or diffuse atrophy – Determined by serial neuroimagingProgressive increase in calcificationsDevelopment of hemiparesisDeterioration in cognitive functioningPhysical signs of SWS are as follows:Port-wine stainMacrocephalyOcular manifestationsSoft-tissue hypertrophyHemiparesisVisual lossHemianopsiaOcular involvement in SWS may include the following signs:BuphthalmosGlaucomaTomato-catsup colour of the fundus (ipsilateral to the nevus flammeus) with glaucomaConjunctival and episcleral haemangiomasDiffuse choroidal haemangiomasHeterochromia of the iridesTortuous retinal vessels with occasional arteriovenous communications

In secretory OM, effusion in the middle ear is present which does not produce any pain to the patient in comparison to acute OM which produces otalgia. The family members are the ones to notice hearing loss as the patient usually is not aware of it. On otoscopy, the features described in the question are prominent. Otitis externa is usually painful and it also produces an itching sensation. Chronic otitis media is painful and may interfere with balance problems. Cholesteatoma is an abnormal cystic growth in the middle ear that usually discharges foul-smelling fluids and as it grows, otalgia can appear.

Hyperkalaemia presents with high voltage (peaked) T waves on ECG. Other features on ECG include smaller p-waves and wider QRS complexes.