Proteinuria refers to an increased amount of protein excretion in urine, which should be greater than 100mg/m2 per day on a single spot urine collection. The limit is even more relaxed for infants and neonates. Proteinuria is a prominent manifestation of cystinosis, acute tubular necrosis, Fanconi syndrome, and celiac disease. Landau-Kleffner syndrome is a rare childhood convulsive disorder, associated with acquired aphasia and auditory verbal agnosia.

ABC : Airway, breathing, circulation is the order of assessment in any patient that is unconscious and apnoeic.

Consuming iron in its Fe2+ (ferrous form) form can improve the ability to absorb dietary iron in patients with iron deficiency anaemia (IDA). Clinical features of IDA include:- Koilonychia- Atrophic glossitis- Post-cricoid webs- Angular stomatitisThe peripheral blood smear shows the following abnormal RBC morphologies:- Target cells- Pencil poikilocytes- Microcytic-hypochromic cells

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.

The baby most probably has dystrophic epidermolysis bullosa, a primarily autosomal dominant disorder associated with keratin 5 and 14 defects. Initial management consists of supportive measures such as protecting the skin.

Adenoid tissue sometimes swell as a result of fighting off the infection as germs are trapped in the adenoids. Adenoid enlargement is suspected.

Noonan syndrome is one of the most common genetic diseases associated with congenital heart defects, being second in frequency only to Down syndrome.Pulmonary stenosis and hypertrophic cardiomyopathy are generally the most common congenital heart defects found in Noonan syndrome.Pulmonary stenosis is often associated with a thickened and dysplastic valve. It is usually difficult to obtain a satisfactory result using the transcatheter balloon dilatation of such dysplastic valves, so surgical intervention is more likely to be needed.Hypertrophic cardiomyopathy involves predominantly the ventricular septum as asymmetric septal hypertrophy, but may also affect the ventricular free walls. Left ventricular outflow tract obstruction may occasionally be produced.

Although WPW syndrome is a type of supraventricular re-entrant tachycardia, CCBs are contraindicated in its management. This is because CCBs depress AVN conduction| the current then passes through the accessory pathway (bundle of Kent) instead, causing ventricular tachycardia.

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.

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.

When a child with joint problems presents with red-eye, the likelihood of anterior uveitis must be excluded by involving an ophthalmologist in the assessment. This is because uveitis is the most common extra-articular manifestation of juvenile idiopathic arthritis.Other options:- Cataract: It does not give rise to a red-eye, but leukocoria. Often this would have been picked up at an earlier age. – A patient with a corneal foreign body almost would almost invariably give a suspicious history (onset while playing outdoors etc.), as well as have marked symptoms of ocular discomfort (red, watery and painful eyes). – A child with periorbital cellulitis often presents acutely unwell and distressed. – A child with an uncorrected refractive error often complains of being unable to see in class and does not normally present with ocular redness.

Minimal change nephrotic syndrome leads to the loss of anti-thrombin III which protects the body from forming venous emboli. It may be triggered by virus, immunisations, medication, non-Hodgkin lymphoma, or leukaemiaCharacterised by oedema, proteinuria, hypoalbuminemia, and hypercholesterolemia.

The external aspect of the tympanic membrane is lined by stratified squamous epithelium. Clinical correlation: Following middle ear infections, this type of epithelium can migrate into the middle ear through a perforated tympanic membrane.The ear is composed of three anatomically distinct regions: – External ear: Auricle is composed of elastic cartilage covered by skin. The lobule has no cartilage and contains fat and fibrous tissue. External auditory meatus is variable in length, measuring approximately 2.5cm long in fully grown children. Lateral third of the external auditory meatus is cartilaginous, and the medial two-thirds is bony. The greater auricular nerve innervates the region. The auriculotemporal branch of the trigeminal nerve supplies most of the external auditory meatus and the lateral surface of the auricle. – Middle ear: It is the space between the tympanic membrane and cochlea. The aditus leads to the mastoid air cells is the route through which middle ear infections may cause mastoiditis. Anteriorly the eustachian tube connects the middle ear to the nasopharynx. The tympanic membrane consists of an outer layer of stratified squamous epithelium, a middle layer of fibrous tissue and an inner layer of mucous membrane continuous with the middle ear. The chorda tympani nerve passes on the medial side of the pars flaccida. The glossopharyngeal nerve and pain innervate the middle ear. Thus, pain may radiate to the middle ear following tonsillectomy. – Ossicles:Malleus attaches to the tympanic membrane (the Umbo). Malleus articulates with the incus (synovial joint). Incus attaches to stapes (another synovial joint). – Internal ear:It consists of the cochlea, semicircular canals, and vestibule. Organ of Corti is the sense organ of hearing and is located on the inside of the cochlear duct on the basilar membrane. Vestibule accommodates the utricle and the saccule. These structures contain endolymph and are surrounded by perilymph within the vestibule. The semicircular canals lie at various angles to the petrous temporal bone. All share a common opening into the vestibule.

Based on the presentation, the patient is probably a case of Crohn’s disease. The first-line treatment of Crohn’s disease is exclusive enteral nutrition.Exclusive enteral nutrition (EEN)This involves drinking a protein-based formula exclusively for 6–8 weeks. It has been shown to have superior mucosal healing when compared with steroids. Furthermore, it is nutritionally advantageous when compared to steroids and does not have the side-effect profile of steroids.Other options:- Intravenous steroids: This is the first-line treatment for ulcerative colitis (UC) or Crohn’s disease if there is rectal disease (which is not the case here). Side-effects include adrenal suppression, behavioural effects, osteopenia and changes in adipose tissue distribution.- Oral steroids: This can be used if EEN is not possible. However, the side-effect profile is less favourable and is not as effective concerning mucosal healing.- Parental nutrition and surgery: They may be occasionally required in severe cases that have failed first-line therapy.

Mittelschmerz is midcycle abdominal pain due to leakage of prostaglandin-containing follicular fluid at the time of ovulation. It is self-limited, and a theoretical concern is treatment of pain with prostaglandin synthetase inhibitors, which could prevent ovulation. The pain of mittelschmerz usually occurs in the lower abdomen and pelvis, either in the middle or to one side. The pain can range from a mild twinge to severe discomfort and usually lasts from minutes to hours. In some cases, a small amount of vaginal bleeding or discharge might occur. Some women have nausea, especially if the pain is very strong.Diagnosis of pelvic pain in women can be challenging because many symptoms and signs are insensitive and nonspecific. As the first priority, urgent life-threatening conditions (e.g., ectopic pregnancy, appendicitis, ruptured ovarian cyst) and fertility-threatening conditions (e.g., pelvic inflammatory disease, ovarian torsion) must be considered. Many women never have pain at ovulation. Some women, however, have mid-cycle pain every month, and can tell by the pain that they are ovulating.As an egg develops in the ovary, it is surrounded by follicular fluid. During ovulation, the egg and the fluid, as well as some blood, are released from the ovary. While the exact cause of mittelschmerz is not known, it is believed to be caused by the normal enlargement of the egg in the ovary just before ovulation. Also, the pain could be caused by the normal bleeding that comes with ovulation.Pelvic inflammatory disease can be ruled out if the patient is not sexually active.

Odds ratios are best described as the odds of an event in one group divided by the odds of the event in another. They form an alternative to the relative risk in case–control studies and are close to the relative risk when events are rare. The odds are the number of the event divided by the number without the event, which is less intuitive than the risk, which is the number with the event divided by the total. Odds ratios are therefore less intuitive than relative risks. Logistic regression analysis outputs variable coefficients which are the log of the odds ratio.

Germinal matrix/intraventricular haemorrhage (GM/IVH) is a complication of premature delivery that can result in life-long medical and developmental consequences. Although GM/IVH can occur in term infants, haemorrhage in this group of infants remains distinct from periventricular haemorrhage (PVH)/IVH of the preterm infant. Several acquired lesions of the central nervous system (CNS) specifically affect infants born prematurely and result in long-term disability, including GM/IVH, periventricular white matter injury (e.g., cystic periventricular leukomalacia [CPVL], periventricular haemorrhagic infarction [PVHI]), haemorrhage, and diffuse injury to the developing brain.The physical examination is usually negative in germinal matrix/intraventricular haemorrhage (GM/IVH). Occasionally, severe GM/IVH may present with nonspecific systemic findings suggestive of cardiovascular collapse.One subgroup of infants with GM/IVH presents with the following:- A sudden unexplained drop in haematocrit levels- Possible physical findings related to anaemia (e.g., pallor, poor perfusion) or haemorrhagic shockAnother subgroup of infants with GM/IVH presents with extreme signs, including the following:- A sudden and significant clinical deterioration associated with anaemia, metabolic acidosis, glucose instability, respiratory acidosis, apnoea, hypotonia, and stupor is present.Physical findings related to these signs include poor perfusion, pallor or an ashen colour, irregularities of respiratory pattern, signs of respiratory distress including retractions and tachypnoea, hypotonia, and altered mental status (e.g., decreased responsiveness, coma).Additional neurologic signs, such as fullness of the fontanelles, seizures, and posturing, may also be observed. Progression can be rapid and may result in shock and death.Extradural haemorrhage also known as an epidural hematoma, is a collection of blood that forms between the inner surface of the skull and outer layer of the dura, which is called the endosteal layer. They are usually associated with a history of head trauma and frequently associated skull fracture. The source of bleeding is usually arterial, most commonly from a torn middle meningeal artery.A subdural haemorrhage (or hematoma) is a type of bleeding that often occurs outside the brain as a result of a severe head injury. It takes place when blood vessels burst between the brain and the leather-like membrane that wraps around the brain (the dura mater). The pooling blood creates pressure on the surface of the brain, causing a variety of problems.

The differentials of the child’s condition are likely to include an Iron deficiency anaemia, or a hemoglobinopathy such as sickle cell disease or thalassemia based on the presentation of pallor, growth failure and easy fatiguability. While the full blood count and film present a hypochromic microcytic anaemia with reticulocytosis, the normal serum ferritin levels rule out iron deficiency anaemia. Thalassemia is to be suspected over sickle cell disease as the patient comes from the Mediterranean region known for a high incidence of thalassemia. Sickle cell anaemia also tends to present with normocytic normochromic red blood cells, with many sickled cells. Vitamin B12 deficiency and Aplastic anaemia are ruled out as they present with a macrocytic anaemia, and a decrease in white blood cells, platelets and red blood cells respectively.

On electrocardiography (ECG), characteristic changes in patients with hypercalcemia include:Tall T wavesReduced QTProlonged and depressed STArrhythmiaOther electrolyte disturbances:Hypokalaemia:Flat T wavesST depressionU waveAtrial and ventricular ectopicsVF and VTHyperkalaemia:Tall T wavesST- changesReduced QT intervalIncreased PR intervalSmaller or absent P wavesWidened QRS, broadening to VFHypocalcaemia:Prolonged QTProlonged STFlat or absent T wavesU waves

A ventricular septal defect (VSD) is a common form of congenital heart defects and is characterised by the presence of a hole in the wall that separates the right from the left ventricle. Medium or large defects can cause many complications. One of these complication is Eisenmenger syndrome, characterised by reversal of the shunt (from left-to-right shunt into a right-to-left) ,cyanosis and pulmonary hypertension.

Biliary atresia is a rare condition that causes obstructive jaundice. Without surgical treatment, e.g. Roux-en-Y, Kasai procedure or liver transplantation, death is likely by 2 years of age. The aetiology of biliary atresia is unknown. Theories suggest a multitude of etiological and causative factors that are both genetic and acquired.The other conditions do not cause a conjugated hyperbilirubinemia.

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.

The most probable cause for chronic parotitis in this patient would be HIV infection.Rationale:Chronic infectious parotitis is relatively uncommon in children. While mycobacterial infection can result in chronic parotitis, HIV is a relatively more common cause. The presentation should always prompt an HIV test. Other options:- While mumps is the most common cause of acute viral parotitis, the chronic nature of the boy’s presentation rules it out. – Acute bacterial parotitis is usually unilateral and is warm and tender to touch.

Achondroplasia is one of the commonest forms of skeletal dysplasias that lead to dwarfism. Multiple skeletal deformities are associated with it but the common cranial abnormalities are macrocephaly, frontal bossing, depressed nasal bridge, narrowed foramen magnum, and the presence of communicating hydrocephalus. A prominent maxilla is not associated with achondroplasia.

Topical treatments are useful in the treatment of mild Psoriasis, or as adjuvant therapy in ultraviolet and systematic treatments. These treatments include moisturisers, dithranol, coal tar, salicylic acid, topical immunomodulators such as calcineurin, topical retinoids, Vitamin D analogues and topical steroids. Topical steroids are known to have a number of side effects such as striae, atrophy of the skin, telangiectasia, acneiform rash, and easy bruising. Localised pustular psoriasis is also associated with topical steroids in higher doses. Use of more than 500 g of hydrocortisone or 50 g clobetasol propionate have been shown to suppress adrenal function. Calcitriol, a vitamin D analogue, is only available as an ointment and does not stain clothes and skin the way dithranol and coal tar are known to.

The most probable cause for the patient’s presenting symptoms is encephalitis secondary to measles infection.Encephalitis:Encephalitis occurs in 1 per 1000 measles cases. It usually presents within 1–14 days of the rash, usually day 5. It may present with fever, headache, vomiting, stiff neck, meningeal irritation, drowsiness, seizures, reduced consciousness| 15% will have neurological sequelae| 10% mortality.Other options:- Acute disseminated encephalomyelitis occurs in 1 per 1000 measles cases. It is thought to be a postinfectious immune response. Clinical manifestations include fever, headache, neck stiffness, seizures and mental status changes. It could fit this presentation although it tends to present in the recovery phase of measles infection, typically two weeks after the exanthem. In contrast, encephalitis tends to occur within a few days of the rash.- The history is not that of a typical febrile seizure as it lasted >15 minutes. He has also not recovered consciousness at 4 hours. The diazepam should have been eliminated within 4 hours and so should no longer be contributing to his reduced level of consciousness. Also, the history states the recent diagnosis of measles, and so complications of measles should be considered.- Intracranial bleed secondary to thrombocytopenia: Measles is not known to cause thrombocytopenia.- Subacute sclerosing panencephalitis (also known as Dawson’s encephalitis): This is an extremely rare complication of measles. It is a progressive degenerative disease of the central nervous system that occurs 7–10 years after a measles infection. The treatment for SSPE is mainly intraventricular interferon therapy through an Ommaya reservoir. The prognosis is poor, and it is usually fatal.

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 elemental diet is a medically supervised, sole nutrition dietary management given to individuals with moderate to severe impaired gastrointestinal function for 14-21 days.The diet consists of macronutrients broken down into their elemental form requiring little to no digestive functionality allowing time for the gut to rest. Elemental formulations are believed to be entirely absorbed within the first few feet of small intestine.

During lumbar puncture, the first structures encountered by the needle are skin and subcutaneous tissue. But, since they are not provided in the options, the most superficial structure after them is the supraspinous ligament.Lumbar puncture is a procedure performed to obtain cerebrospinal fluid. The procedure is best performed at the level of L3/L4 or L4/5 interspace. During the procedure, the needle pierces the following structures in order from superficial to deep: Skin, subcutaneous tissue, supraspinous ligament, interspinous ligament, ligamentum flavum, the epidural space containing the internal vertebral venous plexus, dura, and arachnoid, finally entering the subarachnoid space. The supraspinous ligament connects the tips of spinous processes and the interspinous ligaments between adjacent borders of spinous processes.As the needle penetrates the ligamentum flavum, it causes a give. A second give is felt when the needle penetrates the dura mater and enters the subarachnoid space. At this point, clear CSF flows through the needle and can be collected for diagnostic purposes.

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