A 10 year old child, with a history of URTI and haematuria, presents a picture consistent with a diagnosis of IgA nephropathy. This condition can present with proteinuria and generalized swelling. However, an important differentiating point from rapidly progressive GN is the duration. IgA nephropathy is usually <10 days (commonly 4-5 day history of infection).

Recurrent bacterial infections may be due to lack of B-cell function, consequently resulting in a lack of gamma globulins production. Once the maternal antibodies have depleted, the disease manifests with greater severity and is called x-linked agammaglobulinemia also known as ‘X-linked hypogammaglobulinemia’, ‘XLA’ or ‘Bruton-type agammaglobulinemia. it is a rare x linked genetic disorder that compromises the bodies ability to fight infections. Acute leukaemia causes immunodeficiency but not so specific. DiGeorge syndrome is due to lack of T cell function. Aplastic anaemia and EBV infection does not cause immunodeficiency.

Oligohydramnios is a deficiency in the amniotic fluid volume, measured via ultrasound. Maternal factors associated with oligohydramnios include conditions where there is placental insufficiency such as chronic hypertension, preeclampsia or a thrombotic disorder, post-term pregnancy, premature rupture of membranes, certain chromosomal abnormalities, and obstructions of the foetal urinary tract. On the other hand conditions that are associated with polyhydramnios (excess amniotic fluid) include maternal diabetes, multiple gestations, Rh incompatibility and pulmonary abnormalities.

Pityriasis rosea is a common, acute exanthem of uncertain aetiology. Viral and bacterial causes have been sought, but convincing answers have not yet been found. Pityriasis rosea typically affects children and young adults. It is characterized by an initial herald patch, followed by the development of a diffuse papulosquamous rash. The herald patch often is misdiagnosed as eczema. Pityriasis rosea is difficult to identify until the appearance of characteristic smaller secondary lesions that follow Langer’s lines (cleavage lines). Several medications can cause a rash similar to pityriasis rosea, and several diseases, including secondary syphilis, are included in the differential diagnosis. Typically, only symptomatic treatment of pruritus with lotions, oral antihistamines, and/or a short course of topical steroids is necessary.

Erythema multiforme lesions typically heal without scarring. Other options:- In erythema multiforme, lesions are typically symmetrical and acral, i.e. on the hands, feet and limbs. – HSV is a common cause of erythema multiforme in children, accounting for at least 50% of cases; the lesions typically have damaged skin in the centre and are dusky and bullous (in contrast to urticaria, where the centre of the lesion is normal).

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 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.

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.

Codman’s triangle is the triangular area of new subperiosteal bone that is created when a lesion, often a tumour, raises the periosteum away from the bone. The main causes for this sign are osteosarcoma, Ewing’s sarcoma, eumycetoma, and a subperiosteal abscess.

The most probable diagnosis for this patient’s symptoms is psoriasis. Psoriasis:Chronic plaque psoriasis is characterised by pinkish-red hyperkeratotic plaques, which occur mainly on extensor surfaces such as knees and elbows. The lower back, ears and scalp can also be involved. Koebner phenomenon: Psoriasis typically exhibits this phenomenon where new plaques of psoriasis occur particularly at sites of skin trauma. Diagnosis:Skin biopsy of psoriatic plaques reveals acanthosis and parakeratosis, reflecting increased skin turnover. Capillary dilatation within the dermis also occurs, surrounded by a mixed neutrophilic and lymphohistiocytic perivascular infiltrate.

Common neurological symptoms of Wilson disease that may appear and progress with time include tremor, involuntary movements, difficulty swallowing (dysphagia), difficulty speaking and poor articulation (dysarthria), lack of coordination, spasticity, dystonic postures, and muscle rigidity.

Intussusception is the invagination of one segment of the intestine within a more distal segment. It presents with vomiting, abdominal pain, and a palpable abdominal mass.Intussusception usually affects infants between 6-18 months old. Boys are affected twice as often as girls

Keratosis pilaris most often affects the outer aspect of both upper arms. It may also occur on the thighs, buttocks and sides of the cheeks, and less often on the forearms and upper back. The distribution is symmetrical.The scaly spots may appear skin coloured, red (keratosis pilaris rubra) or brown (hyperpigmented keratosis pilaris). They are not itchy or sore.Macules are flat, nonpalpable lesions usually < 10 mm in diameter.Examples include freckles, flat moles, tattoos, and port-wine stains, and the rashes of rickettsial infections, rubella, measles (can also have papules and plaques), and some allergic drug eruptions.Papules are elevated lesions usually < 10 mm in diameter that can be felt or palpated. Examples include nevi, warts, lichen planus, insect bites, seborrheic keratoses, actinic keratoses, some lesions of acne, and skin cancers. Plaques are palpable lesions > 10 mm in diameter that are elevated or depressed compared to the skin surface. Plaques may be flat topped or rounded. Lesions of psoriasis and granuloma annulare commonly form plaques.Nodules are firm papules or lesions that extend into the dermis or subcutaneous tissue. Examples include cysts, lipomas, and fibromas.Vesicles are small, clear, fluid-filled blisters < 10 mm in diameter. Vesicles are characteristic of herpes infections, acute allergic contact dermatitis, and some autoimmune blistering disorders (e.g., dermatitis herpetiformis).Bullae are clear fluid-filled blisters > 10 mm in diameter. These may be caused by burns, bites, irritant contact dermatitis or allergic contact dermatitis, and drug reactions. Classic autoimmune bullous diseases include pemphigus vulgaris and bullous pemphigoid. Bullae also may occur in inherited disorders of skin fragility.

Narcolepsy is a rare condition characterised by excessive daytime sleepiness, sleep paralysis, hypnagogic hallucinations, and cataplexy (sudden collapse triggered by emotion such as laughing or crying). There is no cure for narcolepsy. Treatment options include stimulants, such as methylphenidate (Ritalin) or modafinil (Provigil), antidepressants, such as fluoxetine (Prozac), citalopram (Celexa), paroxetine (Paxil), sertraline (Zoloft) and sodium oxybate (Xyrem). Modafinil has replaced methylphenidate and amphetamine as the first-line treatment of excessive daytime sleepiness (EDS).

A peripheral blood film in iron deficiency anaemia can reveal the following morphologically variant RBCs:- Microcytic cells- Hypochromic cells- Pencil cells- Target cellsOther options:- Schistocytes can be caused by mechanical heart valves. – Rouleaux can be seen in chronic liver disease and malignant lymphoma. – Tear-drop poikilocytes can be seen in myelofibrosis. – Acanthocytes can be seen in liver disease and McLeod blood group phenotype.Pathological red cell forms include:- Target cells: Sickle-cell/thalassaemia, iron-deficiency anaemia, hyposplenism, and liver disease.- Tear-drop poikilocytes: Myelofibrosis- Spherocytes: Hereditary spherocytosis and autoimmune haemolytic anaemia- Basophilic stippling: Lead poisoning, thalassaemia, sideroblastic anaemia, and myelodysplasia- Howell-Jolly bodies: Hyposplenism- Heinz bodies: G6PD deficiency and alpha-thalassaemiaSchistocytes (‘helmet cells’): Intravascular haemolysis, mechanical heart valve, and disseminated intravascular coagulation- Pencil poikilocytes: Iron deficiency anaemia- Burr cells (echinocytes): Uraemia and pyruvate kinase deficiency – Acanthocytes: Abetalipoproteinemia

Metabolic alkalosis is characterized by a primary increase in the concentration of serum bicarbonate ions. This may occur as a consequence of a loss of hydrogen ions or a gain in bicarbonate. Hydrogen ions may be lost through the kidneys or the GI tract, as for example during vomiting, nasogastric suction or use of diuretics. Intracellular shifting of hydrogen ions develops mainly during hypokalaemia to maintain neutrality. Gain in bicarbonate ions may develop during administration of sodium bicarbonate in high amounts or in amounts that exceed the capacity of excretion of the kidneys, as seen in renal failure. Fluid losses may be another cause of metabolic alkalosis, causing the reduction of extracellular fluid volume.

A lymphangioma is a swelling or mass that occurs mainly in the head, neck, and mouth. Lymphangiomas are the result of a congenital condition and are usually apparent at birth, or at least by the time a person is 2 years old. It is rare in adult population and when detected, it can be treated with surgical excision. Branchial cyst in most cases does not transilluminate which lymphangioma does.

The most common cause of acute urticaria is a viral infection. Individual lesions typically are short-lived and last less than 24 hours. Urticaria can be due to or can be made worse by cold temperatures. One of the other causes of urticaria is salicylic acid.

Transfusion with blood products carries a risk of acute and more chronic adverse reactions. These reactions can either be immune mediated due to a component mismatch, or non immune, underpinned by bacterial or viral contamination. Reactions range from very mild such as urticaria, to life threatening in the case of transfusion-related acute lung injury. In transfusion with packed red blood cells, the most common adverse event is pyrexia, while urticaria is the most common adverse event that follows infusion with FFP.

Answer: LaparoscopyThe diagnostic accuracy of laparoscopy for impalpable testis is well recognized. Approximately 20% of undescended testes are truly impalpable, and laparoscopy is actually regarded as the gold standard for their localization; none of the currently available imaging techniques (ultrasound, computerized tomography, or magnetic resonance imaging) has proven to be 100% reliable in predicting the presence or absence of a testis.In this respect, not only can laparoscopy be considered the most reliable tool to provide information on the location of the testis but also to confirm its absence.Undescended testes in boys is a very common congenital abnormality in which one or both testes does not reach the bottom of the scrotum prior to birth. The incidence of the condition is 3-5% among all boys at birth, and decreases to 0.8-1% after 6 months of age.Males with undescended testes have a lower sperm count, poorer quality sperm, and lower fertility rate, compared to males whose testicles descend normally; the rate of subfertility increases with bilateral involvement and increasing age at the time of orchidopexy.

Puberty is when a child’s body begins to develop and change as they become an adult.The average age for girls to begin puberty is 11, while for boys the average age is 12.It’s completely normal for puberty to begin at any point from the ages of 8 to 14. The process can take up to 4 years.

Cystic fibrosis has an autosomal recessive pattern of inheritance, meaning that a person might be a carrier of the disease without developing it. If the unaffected partner is a carrier, then there is a 50% chance of inheritance and a 50% chance of having a child who is a carrier. However, if the partner is not a carrier, the offspring will not develop the disease but the possibility of being a carrier raises up to 100%.

CMPI ( cow’s milk protein intolerance) is an immunological reaction to one or more of the many proteins found in cow’s milk. It may be IgE mediated or non-IgE mediated. The prominent signs and symptoms include sneezing, rhinorrhoea, coughing, wheezing, oral angioedema, oral itching, diarrhoea, vomiting, and bloody stools. Steatorrhea is not a recognized feature of CMPI.

There are two lateral rotators of the arm, the infraspinatus and the teres minor muscles. The infraspinatus muscle receives nerve supply from C5 and C6 via the suprascapular nerve, whilst the teres minor is supplied by C5 via the axillary nerve.

Due to breakdown of the red blood cell membrane in haemophilic patients, cholesterol crystals are formed by the lipids. On the other hand lipofuscin deposition does not occur in haemolysis or haemorrhage. Neutrophil accumulation suggests acute inflammation. Anthracotic pigment is an exogenous carbon pigment that deposits in the lung from dust. Russell bodies are intracellular accumulations of immunoglobins in plasma cells. Curschmann’s spirals and Charcot Leyden crystals are pathognomonic of asthma.

Breast milk jaundice is associated with breast-feeding. It typically occurs one week after birth and can sometimes last up to 12 weeks, but it rarely causes complications in healthy, breast-fed infants. The exact cause of breast milk jaundice isn’t known. However, it may be linked to a substance in the breast milk that prevents certain proteins in the infant’s liver from breaking down bilirubin. The condition may also run in families. Breast milk jaundice is rare, affecting less than 3 percent of infants. When it does occur, it usually doesn’t cause any problems and eventually goes away on its own. It is safe to continue breast-feeding.

Tinea incognitoť is a term used to describe a tinea infection modified by topical steroids. It is caused by prolonged use of topical steroids, sometimes prescribed as a result of incorrect diagnosis. Topical steroids suppress the local immune response and allow the fungus to grow easily. As a result, the fungal infection may take on the bizarre appearance seen in this patient.The diagnosis of tinea incognito is simple to confirm by microscopic visualization of branching hyphae and spores typical of dermatophytes in a potassium hydroxide preparation.Treatment of tinea incognito requires cessation of all topical steroid use and implementation of specific antifungal treatment. A low-potency corticosteroid may be used briefly to avoid the flare often associated with abrupt cessation of a potent steroid. Patients should be warned of this possibility so they do not reinstitute use of topical steroids on their own.

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 disorder, e.g. Ehler Danlos syndrome. – Auspitzs sign: These are small bleeding points are 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.

Craniopharyngiomas (also known as Rathke pouch tumours, adamantinomas or hypophyseal duct tumours) affect children mainly between the age of 5 and 10 years. It constitutes 9% of brain tumours affecting the paediatric population. These are slow-growing tumours which can also be cystic, and arise from the pituitary stalk, specifically the nests of epithelium derived from Rathke’s pouch. Histologically, this tumour shows nests of squamous epithelium which is lined on the outside by radially arranged cells. Calcium deposition is often seen with a papillary type of architecture.ACTH-secreting pituitary adenomas are rare and mostly microadenomas. Paediatric astrocytoma’s usually occur in the posterior fossa. Although null cell adenomas can cause mass effect and give rise to the described symptoms, they are not suprasellar. Prolactinomas can also show symptoms of headache and disturbances in the visual field, however they are known to be small and slow-growing.

Certain CHDs may present with a differential cyanosis, in which the preductal part of the body (upper part of the body) is pinkish but the post ductal part of the body (lower part of the body) is cyanotic, or vice versa (reverse differential cyanosis). The prerequisite for this unique situation is the presence of a right-to-left shunt through the PDA and severe coarctation of the aorta or aortic arch interruption or severe pulmonary hypertension. In patients with severe coarctation of the aorta or interruption of the aortic arch with normally related great arteries, the preductal part of the body is supplied by highly oxygenated pulmonary venous blood via the LA and LV, whereas the post ductal part is supplied by deoxygenated systemic venous blood via the RA, RV, main pulmonary artery (MPA) and the PDA. In the new-born with structurally normal heart, a differential cyanosis may be associated with persistent pulmonary hypertension of the new-born. In the cases of TGA with coarctation of the aorta or aortic arch interruption, the upper body is mostly supplied by systemic venous blood via the RA, RV, and ascending aorta, whereas the lower body is supplied by highly oxygenated pulmonary venous blood via the LA, LV, MPA, and then the PDA. For accurate detection of differential cyanosis, oxygen saturation should be measured in both preductal (right finger) and post ductal (feet) parts of the body.