Auscultatory findings of VSD vary with the size of the defect. Small VSDs typically produce murmurs ranging from a grade 1 to 2/6 high-pitched, short systolic murmur (due to tiny defects that actually close during late systole) to a grade 3 to 4/6 holosystolic murmur (with or without thrill) at the lower left sternal border| this murmur is usually audible within the first few days of life (see table Heart Murmur Intensity). The precordium is not hyperactive, and the 2nd heart sound (S2) is normally split and has normal intensity.Moderate to large VSDs produce a holosystolic murmur that is present by age 2 to 3 wk| S2 is usually narrowly split with an accentuated pulmonary component. An apical diastolic rumble (due to increased flow through the mitral valve) and findings of heart failure (e.g., tachypnoea, dyspnoea with feeding, failure to thrive, gallop, crackles, hepatomegaly) may be present. In moderate, high-flow VSDs, the murmur is often very loud and accompanied by a thrill (grade 4 or 5 murmur). With large defects allowing equalization of left ventricular and right ventricular pressures, the systolic murmur is often attenuated.

Most cases of Prader-Willi syndrome are not inherited, particularly those caused by a deletion in the paternal chromosome 15 or by maternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development. Affected people typically have no history of the disorder in their family.Rarely, a genetic change responsible for Prader-Willi syndrome can be inherited. For example, it is possible for a genetic change that abnormally inactivates genes on the paternal chromosome 15 to be passed from one generation to the next.Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes (the most common form of diabetes).

Neurofibromatosis type 2, also known as schwannomin, is an autosomal dominant genetic disease caused by mutation of the merlin gene located on chromosome 22. Merlin is a tumour suppressor protein, which is responsible for controlling cell shape, growth and adhesion, and is predominantly found in nervous tissue. Its mutation increases the risk of tumour development especially bilateral vestibular schwannomas, the hallmark of neurofibromatosis 2.

Bernard- Soulier Syndrome results from a deficiency of platelet glycoprotein protein Ib, which mediates the initial interaction of platelets with the subendothelial components via the von Willebrand protein. It is a rare but severe bleeding disorder. Platelets do not aggregate to ristocetin. The platelet count is low, but, characteristically, the platelets are large, often the size of red blood cells, and may be missed on complete blood counts because most automatic counters do not count them as platelets.

The accuracy of the test for calcium levels in the blood is affected by the blood level of albumin. If albumin levels are low, the calcium level can also appear low.This is termed as pseudohypocalcemia.Hypocalcaemia usually presents with muscle spams. These can include spasms of voluntary muscle but also smooth muscle such as in the airways (causing bronchospasm) and in the heart (causing angina).

According per the national guidelines, 5 inflation breaths should be given with a gas pressure of 30cmH2O for term babies. Each breath should be given for 2-3 seconds. Pre-term babies should be aerated with a lower pressure of 20-25cmH2O.

In the case of anterior nasal bleeds, when the bleeding point is clearly visualised the best management step is cautery, either electrical or chemical.

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.

Nissl body is a neuron-specific cellular structure. It is composed of rough endoplasmic reticulum and fine granules. The rough endoplasmic reticulum contains free ribosomes, and are the hub of protein synthesis. When these substances are exposed to a cresyl violet solution, they show selective-staining by turning purple-blue. In pathologic processes, they may undergo chromatolysis.

Among the options provided, an 8-week-old full-term infant with normal developmental milestones will smile in response to appropriate stimuli.Rationale:Smiles in response to appropriate stimuli are seen from around 6 weeks of age. A social smile, where the infant has an awareness that a smile attracts attention, is not observed until around 3 months of age.Other options:- At 6 weeks an infant is able to follow objects in the horizontal plane through 90 deg| fixing and following an object through 180 deg in the horizontal plane is a milestone achieved at 3 months, as is pushing up onto forearms. – Pushing up onto hands occurs by around 5 months.- Infants of 3 months should startle to a 60 dB sound.

The main result of a correlation is called the correlation coefficient (or r). It ranges from -1.0 to +1.0. The closer r is to +1 or -1, the more closely the two variables are related.If r is close to 0, it means there is no relationship between the variables. If r is positive, it means that as one variable gets larger the other gets larger. If r is negative it means that as one gets larger, the other gets smaller (often called an inverse correlation).

Fitz-Hugh-Curtis syndrome (FHCS), or perihepatitis, is a chronic manifestation of pelvic inflammatory disease (PID). It is described as an inflammation of the liver capsule, without the involvement of the liver parenchyma, with adhesion formation accompanied by right upper quadrant pain. A final diagnosis can be made through laparoscopy or laparotomy via direct visualization of violin string-like adhesions or through hepatic capsular biopsy and culture. FHCS is a complication of PID. Microorganisms associated with PID are thought to spread in one of three ways:-Through spontaneous ascending infection, microbes from the cervix or vagina travel to the endometrium, through the fallopian tubes, and into the peritoneal cavity. Complications include endometritis, salpingitis, tubo-ovarian abscess, pelvic peritonitis, and perihepatitis.-Microbes can also spread via lymphatic channels such as an infection of the parametrium from an intrauterine device.-Finally, the hematogenous spread is also possible such as with tuberculosis.

Based on the clinical scenario, the most probable diagnosis for this patient is maxillary sinusitis.The maxillary sinus drains from its superior aspect, leaving it prone to infections. It is the most commonly affected sinus in sinusitis.Common symptoms of maxillary sinusitis include postnasal discharge, pain, headache and toothache.Radiological imaging may show a fluid level in the antrum.Common organisms causing maxillary sinusitis include Haemophilus influenzae or Streptococcus pneumoniae.Treatment with antral lavage may facilitate diagnosis and relieve symptoms. Antimicrobial therapy has to be continued for long periods. Antrostomy may be needed.Other options:- Frontal sinusitis more commonly causes intracranial complications, but it is still less frequent than maxillary sinusitis.- The petrosal sinus is not a cavity within bone| rather, it is a venous structure located beneath the brain.- Frontoethmoidal sinusitis: It usually presents with frontal headache, nasal obstruction and altered sense of smell. Inflammation may progress to involve periorbital tissues. Ocular symptoms may occur, and secondary CNS involvement brought about by infection entering via emissary veins. CT scanning is the imaging modality of choice. Early cases may be managed with antibiotics. More severe cases usually require surgical drainage.

In the first few years of life the developing sensory inputs are important. Hearing is essential for speech and language development and may be delayed when a child cannot hear. Therefore any child with a family history of hereditary deafness should be screened. From about 4-6months babies are able to laugh and babble when excited or unhappy. By the age of 9 months the child should be able to bring together groups of same sound syllables and be able to say one or two words by the 1st birthday. If a child is unable to babble by 10-12 years, it may indicate hearing impairment. By the age of 2 a child should be able to speak in 1 or 2 word phrases and often repeats phrases used by others, known as Echolalia.

Hyposplenism usually occurs after the surgical removal of the spleen or in pathological processes where the splenic tissue is replaced with abnormal tissue. It is often associated with diseases such as sickle cell disease, Coeliac disease, SLE and Dermatitis Herpetiformis. Myxoedema however bears no known association with hyposplenism. Patients with hyposplenism are at risk of fulminant bacterial infection.

Undescended testis (UDT) is a common abnormality, affecting about 1/20 males at birth. Half of these have delayed testicular descent, with the testis in the scrotum by 10-12 weeks after term. Beyond this spontaneous descent is rare. Current treatment recommendations are that UDT beyond 3 months need surgery between 6-12 months of age. Some children have scrotal testes in infancy but develop UDT later in childhood because the spermatic cord does not elongate with age, leaving the testis behind as the scrotum moves further from the groin. The maldescended testis suffers heat stress when not at the lower scrotal temperature (33 degrees Celsius), interfering with testicular physiology and development of germ cells into spermatogonia. Recent evidence suggests orchidopexy between 6-12 months improves germ cell development, with early reports of improved fertility, but no evidence yet for changes in malignancy prognosis.Hypospadias is also a common abnormality in new-born males, affecting about 1/150 boys. Androgens control masculinization of the genital tubercle into penis between 8-12 weeks’ gestation, with tabularization of the urethra from the perineum to the tip of the glans. If this process is disrupted hypospadias occurs, with a variable proximal urethral meatus, failed ventral preputial development producing a dorsal hood, and discrepancy in the ventral versus dorsal penile length, causing a ventral bend in the penis, known as chordee. Surgery to correct hypospadias is recommended between 6-18 months.

Cranial nerve VI, also known as the abducent nerve, innervates the ipsilateral lateral rectus (LR), which functions to abduct the ipsilateral eye. Patients usually present with an isolated abduction deficit, binocular horizontal diplopia, worse in the distance, and esotropia in primary gaze. Patients also may present with a head-turn to maintain binocularity and binocular fusion and to minimize diplopiaExamination for a sixth nerve palsy involves documenting the presence or absence of papilledema, examining the ocular motility, evaluating the eyelids and pupils, and excluding involvement of other cranial nerves (e.g., V, VII, VIII).

Effective treatment can cure gonorrhoea and help prevent long-term complications. CDC recommends a single dose of 250mg of intramuscular ceftriaxone AND 1g of oral azithromycin. It is important to take all of the medication prescribed to cure gonorrhoea.

Osteochondromas, or osteocartilaginous exostoses, are the most common benign bone tumours, and tend to appear near the ends of long bones. The overgrowth can occur in any bone where cartilage forms bone, and they are capped by cartilage. They are most common in people between the ages of 10-20 years old.

The patient’s history points to absence seizures. Carbamazepine has been shown to aggravate generalized seizure types, especially absence seizures, because it acts directly on the ventrobasal complex of the thalamus which is critical to the neurophysiology of absence seizures.

Broca’s area is usually supplied by branches from the middle cerebral artery and thus will be spared when the anterior cerebral artery is occluded.Note:The two internal carotid arteries and two vertebral arteries form an anastomosis known as the Circle of Willis on the inferior surface of the brain. Each half of the circle is formed by:1. Anterior communicating artery2. Anterior cerebral artery3. Internal carotid artery4. Posterior communicating artery5. Posterior cerebral arteries and the termination of the basilar arteryThe circle and its branches supply the corpus striatum, internal capsule, diencephalon and midbrain.

Turners syndrome is a chromosomal syndrome affecting the development of females. In this condition, all or part of the X chromosome gets deleted, producing the Karyotype 45 XO or 45XO/46XX. Spontaneous foetal loss is common in the first trimester, but foetuses which survive are born small for date, and may have lymphedema, and poor feeding in the neonatal period. These patients face numerous medical and developmental problems throughout their lifetimes including growth and puberty failure due to premature ovarian failure/ hypergonadotropic hypogonadism. However spontaneous puberty can be seen in up to 20% of females with Turner’s syndrome.

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.

Congenital hypothyroidism (CH) is inadequate thyroid hormone production in new-born infants. It can occur because of an anatomic defect in the gland, an inborn error of thyroid metabolism, or iodine deficiency.CH is the most common neonatal endocrine disorder, and historically, thyroid dysgenesis was thought to account for approximately 80% of cases. However, studies have reported a change in the epidemiology, with a doubling in incidence to around 1 in 1500 live new-borns.​Infants with congenital hypothyroidism are usually born at term or after term. Symptoms and signs include the following:Decreased activityLarge anterior fontanellePoor feeding and weight gainSmall stature or poor growthJaundiceDecreased stooling or constipationHypotoniaHoarse cryProlonged neonatal jaundice or unconjugated hyperbilirubinemia

Scabies infection in neonates typically manifests as nodular eruptions involving the face, neck, scalp, palms, and soles in contrast to the predominant involvement of the hands, wrists, elbows, and ankles in adults. Differential diagnoses for the nodular eruption in neonates are broad, and scabies often is misdiagnosed as Langerhans cell histiocytosis, urticaria pigmentosa, or another pruritic, bullous, or lymphoproliferative dermatosis. Histopathology of the reactive nodules usually is not diagnostic, because scabetic organisms are often unidentified and histologic findings are nonspecific. Furthermore, because of the atypical presentation, scabies in children is often missed until persons in close contact with the child present with similar symptoms. Thus, a thorough history and close follow-up are crucial to avoid misdiagnosis and unnecessary aggressive treatment. Moreover, synchronized treatment of patients and their close contacts is needed to ensure the success of therapy, considering that relapse is 2-3 times more frequent in children and infants

The lateral spinothalamic tracts carry pain and temperature sensations from the peripheries to the central nervous system.Note:The spinothalamic tract transmits impulses from receptors which measure crude touch, pain and temperature. The spinothalamic tract comprises the lateral and anterior spinothalamic tracts.The former typically transmits pain and temperature while the latter transmits crude touch and pressure. Neurones transmitting these signals will usually ascend by one or two vertebral levels in the Lissauer tract before decussating in the spinal cord itself. Neurones then pass rostrally in the cord to connect at the thalamus.

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.

The most probable diagnosis in this patient is Noonan syndrome.Noonan syndrome is an autosomal dominant condition characterised by short stature, heart defects (mainly pulmonary stenosis) and learning difficulties. An affected foetus can present with a significant increase in the nuchal thickness or a cystic hygroma of the neck. The condition is variable, and an affected parent is often only diagnosed after the diagnosis in the child.

The patient’s clinical presentation is highly suggestive of Charcot–Marie–Tooth syndrome.It is a hereditary sensory and motor neuropathy. It is also the commonest cause of inherited peripheral neuropathy. The lower motor neuron signs are usually mild in childhood, the age of onset is very variable, and the distal weakness can take years to progress. It is not fatal and does not affect the normal life expectancy.

As this boy has experienced significant dry spells in the past, it is unlikely that a structural abnormality is causing the enuresis. The only therapies that have been shown to be effective in randomized trials are alarm therapy and treatment with desmopressin acetate or imipramine. Bladder training exercises are not recommended. Desmopressin acetate is the preferred medication for treating children with enuresis.