Hyposplenism is associated with thrombocytosis.
Other features of hyposplenism are:
– Howell-Jolly bodies and acanthocytosis, occurring secondary to haemolysis.
– Pappenheimer bodies: These are granular deposits of iron found within the RBCs.
– Lymphocytosis and monocytosis.
Causes for hyposplenism include:
– Congenital asplenia
– Iatrogenic splenectomy: Following trauma or treatment for ITP, thalassemia or spherocytosis).
– Autosplenectomy: Secondary to sickle cell anaemia, coeliac disease, dermatitis herpetiformis, essential thrombocythemia or splenic arterial thrombosis).

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.

The child is suffering from acute sickle cell crisis, a complication of sickle cell disease. It is characterised by a new segmental pulmonary infiltrate consistent with consolidation together with one or more new respiratory symptoms.
The mainstay of treatment is oxygen support, (ventilation if required), hydration, antibiotics and analgesia.

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: Laparoscopy

The 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.

The nerve supply to the tensor tympani is the mandibular nerve.

The mandibular nerve is the only division of the trigeminal nerve that carries motor fibres.

Tensor tympani is a muscle that lies in a bony canal just superior to the pharyngotympanic tube.
It originates from the cartilaginous portion of the pharyngotympanic tube, the bony canal in which it sits, and the greater wing of the sphenoid bone. It inserts into the upper part of the handle of the malleus.
When contracted, it pulls the handle of the malleus medially. This action increases the tension across the tympanic membrane, reducing the magnitude of vibrations transmitted into the middle ear.
This dampens loud noises or noises produced by chewing. Tensor tympani is innervated through the nerve to tensor tympani, which arises from the mandibular nerve.

Other options:
– The vestibulocochlear nerve is the eighth cranial nerve. This nerve has two components, a vestibular division that carries balance information, and a cochlear division that carries hearing information.
– The glossopharyngeal nerve is the ninth cranial nerve. It has a wide range of functions. It carries taste and sensation from the posterior third of the tongue, as well as sensation from the pharyngeal wall and tonsils, the middle ear, external auditory canal and auricle.
It carries parasympathetic fibres that supply the parotid gland. It also supplies the baroreceptors and chemoreceptors of the carotid sinus and supplies the secretomotor fibres to the parotid gland.
– The maxillary nerve carries only sensory fibres.
– The facial nerve is the seventh cranial nerve. It supplies the muscles of facial expression, as well as stylohyoid, the posterior belly of digastric, and stapedius (the only other muscle associated with the middle ear). It carries taste from the anterior two-thirds of the tongue and sensation from part of the external acoustic meatus, parts of the auricle and the retro-auricular area.
It provides secretomotor fibres which supply to the submandibular gland, sublingual gland (via chorda tympani nerve), nasal glands and lacrimal glands.

The swelling and bruising on the mandible needs to be checked for fractures. A facial X-ray can adequately visualize this.

Prevalence, sometimes referred to as prevalence rate, is the proportion of persons in a population who have a particular disease or attribute at a specified point in time or over a specified period of time.

The boy had a renal transplant, for which he needs immune suppression. For the exogenous immune suppression an exogenous steroid is needed, which in this case is responsible for the primary Cushing syndrome manifesting with short stature. The administration of steroids before the physiological fusion of the growth plate can lead to premature fusion with permanent cessation of bone growth.

Cystic fibrosis is a genetic disease that interferes with the normal development of the child. It manifests with recurrent episodes of pneumonia accompanied by coughing, wheezing and dyspnoea. The appetite is normal but weight gain seems difficult. This condition also affects bowel habits with repeated gastrointestinal infections. The gold standard for the diagnosis is considered the sweat test which reveals abnormally high levels of Cl-.

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, hypocalcaemia
Endocrine disorders – Hypothyroidism, hyperparathyroidism, pheochromocytoma, hyperaldosteronism, hypoglycaemia
Cardiac conditions – Myocardial ischemia, myocardial infarction, myocarditis, bradyarrhythmia, complete atrioventricular (AV) block, takotsubo cardiomyopathy
Intracranial disorders – Subarachnoid haemorrhage, thalamic hematoma, cerebrovascular accident, encephalitis, head injury
Nutritional disorders – Anorexia nervosa, starvation, liquid protein diets, gastroplasty and ileojejunal bypass, celiac disease

Risk factors for torsade include the following:
Congenital long QT syndrome
Female gender
Acquired long QT syndrome (causes of which include medications and electrolyte disorders such as hypokalaemia and hypomagnesemia)
Bradycardia
Baseline electrocardiographic abnormalities
Renal or liver failure

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.

Pityriasis amiantacea is a reaction pattern rather than a specific diagnosis. Common conditions that may present with pityriasis amiantacea include:

Scalp psoriasis
Seborrhoeic dermatitis
Atopic dermatitis
Tinea capitis.
Head lice and lichen simplex should also be considered.

When no underlying cause is found, the condition is often called idiopathic pityriasis amiantacea.

The lingual nerve wraps around Wharton’s duct, and thus, is at risk of injury as the submandibular gland is mobilised.
The lingual nerve provides sensory supply to the anterior 2/3 of the tongue.
Note:
– Submandibular duct (Wharton’s duct): It opens lateral to the lingual frenulum on the anterior floor of the mouth. It is around 5 cm in length.
– Lingual nerve wraps around Wharton’s duct.
As the duct passes forwards, it crosses medial to the nerve, above it and then crosses back, lateral to it, to reach a position below the nerve.

The clinical picture suggests a vitamin K deficiency haemorrhagic disease of the new-born and requires IV vitamin K and fresh frozen plasma. This usually presents with gastrointestinal bleeding, bleeding from the umbilical stump and bruising after 2-7 days.

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.

Most infants have a good heart rate after birth and establish breathing by about 90 s. If the infant is not breathing adequately aerate the lungs by giving 5 inflation breaths, preferably using air. Until now the infant’s lungs will have been filled with fluid.

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.

Congenital hypothyroidism is associated with failure to thrive, macroglossia, prolonged jaundice of a new-born and constipation.

Based on the clinical presentation, the child probably has orthostatic proteinuria.

Orthostatic proteinuria occurs when the kidneys can conserve urine when the patient is recumbent, such as sleeping at night, but leak protein with standing or in exercise.
This results in early morning urine being negative for protein but late in the day urine being positive. It is mostly seen in tall thin adolescents and is benign.

Other options:
– Alport’s syndrome is a hereditary condition associated with haematuria and deafness.
– Urinary tract infections can cause proteinuria, but leucocyte esterase and nitrites would also be expected in a child of this age.
– Nephritic syndrome can be associated with proteinuria, but haematuria would also be present.
– In nephrotic syndrome, proteinuria would be present on all occasions and associated with oedema.

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.

Mumps presents with a prodromal phase of general malaise and fever. On examination there is usually painful parotid swelling which has high chances of becoming bilateral. In OM with effusion there are no signs of infection and the only symptom is usually hearing loss. Acute otitis externa produces otalgia as well as ear discharge and itching. Acute OM produces otalgia and specific findings upon otoscopy. In acute mastoiditis the patient experiences ear discharge, otalgia, headache, hearing loss and other general signs of inflammation.

Iron deficiency anaemia has the following laboratory characteristics: low haemoglobin, a low serum iron, a low serum ferritin, a low transferrin saturation, and a high total iron-binding capacity.

In the first week after birth, it is normal for the baby to lose weight and then gain it again. Therefore, regular child care should be maintained.

Spontaneous intestinal perforation (SIP) of the new-born, also referred to as isolated perforation or focal intestinal perforation (FIP) of the new-born, is a single intestinal perforation that is typically found at the terminal ileum. SIP occurs primarily in preterm infants with very low birth weight (VLBW, birth weight <1500 g) and extremely low birth weight (ELBW, birth weight <1000 g), umbilical catheter placement, maternal drug use and twin-to-twin transfusion syndrome. SIP is a separate clinical entity from necrotizing enterocolitis, the most severe gastrointestinal complication of preterm infants.

Cranial nerve XI is also known as the accessory nerve. The accessory nerve innervates the trapezius muscle which retracts the scapula. The upper and lower fibres act together to also upwardly rotate it.

Heart murmurs are common in healthy infants, children, and adolescents. Although most are not pathologic, a murmur may be the sole manifestation of serious heart disease. Historical elements that suggest pathology include family history of sudden cardiac death or congenital heart disease, in utero exposure to certain medications or alcohol, maternal diabetes mellitus, history of rheumatic fever or Kawasaki disease, and certain genetic disorders. Physical examination should focus on vital signs; age-appropriate exercise capacity; respiratory or gastrointestinal manifestations of congestive heart failure; and a thorough cardiovascular examination, including features of the murmur, assessment of peripheral perfusion, and auscultation over the heart valves. Red flags that increase the likelihood of a pathologic murmur include a holosystolic or diastolic murmur, grade 3 or higher murmur, harsh quality, an abnormal S2, maximal murmur intensity at the upper left sternal border, a systolic click, or increased intensity when the patient stands. Electrocardiography and chest radiography rarely assist in the diagnosis.

A not immunized patient with a clean wound requires an immediate vaccination against diphtheria, tetanus and polio, according to the Green Book of Immunisation against infectious disease. (The Green Book has the latest information on vaccines and vaccination procedures, for vaccine preventable infectious diseases in the UK.)