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.

Acute lymphoblastic leukaemia (ALL) is a cancer of the lymphoid line of blood cells characterized by the development of large numbers of immature lymphocytes. Symptoms may include feeling tired, frequent infections with fever as well as anaemia with thrombocytopenia. As an acute leukaemia, ALL progresses rapidly and is typically fatal within weeks or months if left untreated. The patient’s age also favours the diagnosis of ALL as it occurs most commonly in children, particularly those between the ages of two and five.

The clinical presentation and way the boy ‘climbs up’ his legs to get up from a supine position (Gowers’ sign) suggests proximal muscle weakness secondary to dermatomyositis.Dermatomyositis is an inflammatory myopathy that typically presents between the ages of five years and ten years. The onset is insidious, and the proximal muscle weakness and raised creatine kinase might be mistaken for muscular dystrophy. However, the systemic illness and rash are characteristic features of the condition.

Bulimia nervosa is a condition in which a person is involved in binge eating and then purging. This patient has swollen parotid glands. The glands swell in order to increase saliva production so that the saliva lost in the vomiting is compensated. This patient also has thickened calluses on the back of her hand. This is known as Russell’s sign. This occurs because of putting fingers in the mouth again and again to induce the gag reflex and vomit. The knuckles get inflamed in the process after coming in contact with the teeth multiple times.

Favus is a fungal infection of the scalp, resulting in the formation of a yellowish crusted plaque over the scalp and leads to scar formation with alopecia. Tinea capitus is a fungal infection of the scalp resulting in scaling and non scarring hair loss. Folliculitis presents with multiple perifollicular papules which can be caused by both bacteria and fungi. Cradle cap usually affects infants where the whole scalp is involved. It can lead to hair loss and responds to topical antifungals and keratolytics.

In this case scenario, the pH is too low to be fully explained by a respiratory acidosis. Usually, if there is a metabolic acidosis, the respiratory system will try to compensate by hyperventilation and reduced pCO2. In this case, however, the pCO2 is raised suggesting the presence of a respiratory component.Therefore, this boy has mixed metabolic and respiratory acidosis, most probably due to severe exacerbation of this asthma, which led to diabetic ketoacidosis.Note:Normal values:pH: 7.35 – 7.45pO2: 10 – 14 kPapCO2: 4.5 – 6 kPaBase excess (BE): -2 – 2 mmol/LHCO3: 22 – 26 mmol/L

This history is suggestive of Henoch-Schonlein Purpura following a respiratory infection. A typical rash involving thighs and buttocks is often seen in this age group. Coagulation profile is the suitable answer from the given answers.

The sinus venosus is a large quadrangular cavity which precedes the atrium on the venous side of the chordate heart. It exists distinctly only in the embryonic heart (where it is found between the two venae cavae); however, the sinus venosus persists in the adult. In the adult, it is incorporated into the wall of the right atrium to form a smooth part called the sinus venarum, which is separated from the rest of the atrium by a ridge of fibres called the crista terminalis. The sinus venosus also forms the SA node and the coronary sinus.

The average amount of energy required by a well preterm baby in a thermo-neutral environment is 50/kcal/kg to maintain essential body functions while it takes about 70 kcal/kg/day for optimal growth. It is important to ensure that enough proteins are given per calorie to limit catabolism and promote cell building. Caloric need usually increases when the baby is ill.

Benign intracranial hypertension is characterized by an elevation of the CSF pressure that is not caused by hydrocephalus or any space-occupying lesion. The cause is most likely the decreased absorption of CSF into the dural sinuses. The main symptoms are headache and visual abnormalities. It can lead to blindness if not managed on time. The most important risk factors for BIH are female gender and obesity. The causes of BIH include iron deficiency anaemia, sarcoidosis, Lyme disease, SLE, polycythaemia vera, chronic kidney disease, meningitis, and sleep apnoea.

Infants exposed to maternal HIV and with positive results require immediate management with co-trimoxazole prophylaxis, regardless of their CD4 levels. Antiretroviral treatment is necessary as well but it could wait until further work-up is complete.

Mild deficiencies of 21-hydroxylase or 3-beta-hydroxysteroid dehydrogenase activity may present in adolescence or adulthood with oligomenorrhea, hirsutism, and/or infertility. This is termed nonclassical adrenal hyperplasia.Late-onset or nonclassical congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Reported prevalence ranges from 1 in 30 to 1 in 1000. Affected individuals typically present due to signs and symptoms of androgen excess. Treatment needs to be directed toward the symptoms. Goals of treatment include normal linear growth velocity, a normal rate of skeletal maturation, ‘on-time’ puberty, regular menstrual cycles, prevention of or limited progression of hirsutism and acne, and fertility. Treatment needs to be individualized and should not be initiated merely to decrease abnormally elevated hormone concentrations.Normal Ultrasound rules out Turner’s syndrome.

Melanoma, a highly malignant tumour arising from melanocytes, is the most common life-threatening dermatological disease. Risk factors include UV radiation exposure, particularly in light-skinned individuals that are easily sunburned, increasing age, family history, and immunosuppression. Lesions that are suspicious for melanoma should be excised with complete margins. Radical excision is not routinely undertaken for diagnostic purposes and therefore if subsequent histopathological assessment determines that the lesion is a melanoma a re-excision of margins may be required.Margins of excision-Related to Breslow thicknessLesions 0-1mm thick – 1cmLesions 1-2mm thick – 1- 2cm (Depending upon site and pathological features)Lesions 2-4mm thick – 2-3 cm (Depending upon site and pathological features)Lesions >4 mm thick – 3cm

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).

The autosomal dominant pattern of inheritance involves the presence of at least one of the defected copies of the gene in an individual to develop a specific diseased condition. Examples of this mode of inheritance include myotonic dystrophy, neurofibromatosis, achondroplasia, etc. Still’s disease, also called juvenile idiopathic arthritis, is not a heritable disease. Tay-Sachs disease is an autosomal recessive disease., while spinocerebellar ataxia and Friedreich’s ataxia are caused by trinucleotide repeat expansion.

The rational part of a teen’s brain isn’t fully developed until the age of 25 or so.In fact, recent research has found that adult and teen brains work differently. Adults think with the prefrontal cortex, the brain’s rational part. This is the part of the brain that responds to situations with good judgment and an awareness of long-term consequences. Teens process information with the amygdala. This is the emotional part.

Most experts suggest that parents reassurance in case of infantile gastro-oesophageal reflux (GOR) is a sufficient initial measure that involves education about regurgitation and lifestyle changes.

Skin conditions resulting from excessive epidermal proliferation or inflammation, leading to a production of excessive scales, are referred to as papulosquamous disorders. These disorders can be generalized and localized. Localized causes of scaly lesions include tinea corporis, tinea cruris, tinea pedis, seborrheic dermatitis, psoriasis, pityriasis Versicolor, pityriasis alba, DLE, ichthyosis including Netherton syndrome (a severe form of ichthyosis which is autosomal recessive), and pellagra. Generalized causes include guttate psoriasis and pityriasis rosacea. Hand, foot, and mouth disease is a contagious viral illness that causes blisters in the mouth and on the extremities.

3-year-old milestones:Social and Emotional:- Copies adults and friends – Shows affection for friends without prompting – Takes turns in games – Shows concern for crying friend – Understands the idea of mineť and hisť or hersť – Shows a wide range of emotions – Separates easily from mom and dad – May get upset with major changes in routine- Dresses and undresses self Language/Communication- Follows instructions with 2 or 3 steps – Can name most familiar things – Understands words like in,ť on,ť and underť – Says first name, age, and sex- Names a friend – Says words like I,ť me,ť we,ť and youť and some plurals (cars, dogs, cats) – Talks well enough for strangers to understand most of the time – Carries on a conversation using 2 to 3 sentencesCognitive (learning, thinking, problem-solving)- Can work toys with buttons, levers, and moving parts – Plays make-believe with dolls, animals, and people – Does puzzles with 3 or 4 pieces – Understands what twoť means – Copies a circle with a pencil or crayon – Turns book pages one at a time – Builds towers of more than 6 blocks – Screws and unscrews jar lids or turns the door handleMovement/Physical Development- Climbs well – Runs easily – Pedals a tricycle (3-wheel bike) – Walks up and downstairs, one foot on each stepDoing up buttons is a skill more usually seen in 5-year-olds.

Haemophilia A and haemophilia B are inherited in an X-linked recessive pattern. The genes associated with these conditions are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition.

Red blood cells (RBC) have a life span of 120 days in humans.Aging of RBC includes changes in many properties: decreased metabolic activity, morphological alterations, including decreased cell volume and changes in cell shape, and quantitative and qualitative modulations of the surface.

The most probable lesion in the patient is a dermoid cyst.Rationale:Dermoid cysts are embryological remnants and may be lined by hair and squamous epithelium (like teratomas). They are often located in the midline and may be linked to deeper structures resulting in a dumbbell shape to the lesion. Complete excision is required as they have a propensity to local recurrence if not excised.Note:Desmoid tumours are a different entity entirely. These lesions most commonly develop in ligaments and tendons. They are also referred to as aggressive fibromatosis and consist of dense fibroblastic lesions (resembling scar tissue). They should be managed in a similar manner to soft tissue sarcomas.

Oesophageal atresia refers to a congenitally interrupted oesophagus. One or more fistulae may be present between the malformed oesophagus and the trachea. The lack of oesophageal patency prevents swallowing. In addition to preventing normal feeding, this problem may cause infants to aspirate and literally drown in their own saliva, which quickly overflows the upper pouch of the obstructed oesophagus. If a tracheoesophageal fistula (TEF) is present, fluid (either saliva from above or gastric secretions from below) may flow directly into the tracheobronchial tree.The complete absence of gas in the GI tract denotes the absence of a distal tracheoesophageal fistula (TEF); however, distal fistulae simply occluded by mucous plugs have been rarely reported.If no distal TEF is present, a gastrostomy may be created. In such cases, the stomach is small, and laparotomy is required. In all cases of oesophageal atresia in which a gastrostomy is created, care should be taken to place it near the lesser curvature to avoid damaging the greater curvature, which can be used in the formation of an oesophageal substitute. When a baby is ventilated with high pressures, the gastrostomy may offer a route of decreased resistance, causing the ventilation gases to flow through the distal fistula and out the gastrostomy site. This condition may complicate the use of ventilation.

The injury described in question leads to an abnormal communication between the orbit and the ipsilateral maxillary sinus – this is termed as a blow-out fracture of the orbit.The maxillary sinuses are found in the maxillary bone, inferior to the orbit. They are the largest of the paranasal air sinuses. The maxillary bone forms the floor of the orbit. This layer of bone separates the orbit from the maxillary sinus. As such, fractures of the floor of the orbit can be associated with herniation of the orbital contents into the maxillary sinus. Other options:- The ethmoidal air cells are a collection of smaller air cells in the ethmoid bone. They lie lateral to the anterior superior nasal cavity. They are separated from the orbit by a very thin plate of ethmoid bone called the lamina papyracea, which is found on the medial wall of the orbit. The thin nature of this bone means it is commonly fractured in orbital trauma. However, this is the incorrect answer to the above question as a communication between the ethmoidal air cells, and the orbit is associated with fractures of the medial wall of the orbit, not the floor. – The frontal sinuses are found in the frontal bones, above the orbits on each side of the head. A large portion of the roof of the orbit is composed of the frontal bone and separates the orbit from the frontal sinus. Fractures of the roof of the orbit can be associated with communication between the frontal sinus and orbit. The frontal bones are strong, and so fracture is associated with high-impact anterior trauma, such as a road traffic accident. – The sphenoid sinuses are found in the posterior portion of the roof of the nasal cavity. The pituitary gland lies nestled within the hypophyseal fossa, with only a thin wall of bone separating it from the sphenoid sinus below. As such, neurosurgeons can gain access to the pituitary gland via the sphenoid sinus, in a procedure called transsphenoidal hypophysectomy. – The nasal cavity extends from the nares to the nasopharynx. It is found more medial and inferior than the orbits. It does not lie adjacent to the orbit at any point and so is unlikely to be involved in an orbital fracture.

Answer: The burn area is extremely painful until skin graftedThird-degree burns destroy the epidermis and dermis. Third-degree burns may also damage the underlying bones, muscles, and tendons. The burn site appears white or charred. There is no sensation in the area since the nerve endings are destroyed. These are not normally painful until after skin grafting is done since the nerve endings have been destroyed.

The most probable diagnosis in this patient would be hyphaema.The acuity has varied because the blood has been settling in the anterior chamber of the eye, thus allowing a reasonable level of visual acuity. The size of the tennis ball (which is not as harmful as a squash ball in the eye) and the fact that it was struck from a distance would cause a moderately significant injury due to pressure to the globe. Other options:- The absence of severe pain makes a large corneal abrasion less likely. – Vitreous haemorrhage would lead to very poor acuity, more likely ‘hand movements only’. – A retinal detachment or traumatic cataract would not produce such immediate symptoms, and if they did occur it would probably be in the presence of more extensive eye trauma and pain, with additional signs of both hyphaema and vitreous haemorrhage.

Answer: Transposition of the great arteriesTransposition of the great arteries (TGA) is the most common cyanotic congenital heart lesion that presents in neonates. The hallmark of transposition of the great arteries is ventriculoarterial discordance, in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle.Infants with transposition of the great arteries (TGA) are usually born at term, with cyanosis apparent within hours of birth.The clinical course and manifestations depend on the extent of intercirculatory mixing and the presence of associated anatomic lesions. Note the following:Transposition of the great arteries with intact ventricular septum: Prominent and progressive cyanosis within the first 24 hours of life is the usual finding in infants if no significant mixing at the atrial level is evident.Transposition of the great arteries with large ventricular septal defect: Infants may not initially manifest symptoms of heart disease, although mild cyanosis (particularly when crying) is often noted. Signs of congestive heart failure (tachypnoea, tachycardia, diaphoresis, and failure to gain weight) may become evident over the first 3-6 weeks as pulmonary blood flow increases.Transposition of the great arteries with ventricular septal defect and left ventricular outflow tract obstruction: Infants often present with extreme cyanosis at birth, proportional to the degree of left ventricular (pulmonary) outflow tract obstruction. The clinical history may be similar to that of an infant with tetralogy of Fallot.Transposition of the great arteries with ventricular septal defect and pulmonary vascular obstructive disease: Progressively advancing pulmonary vascular obstructive disease can prevent this rare subgroup of patients from developing symptoms of congestive heart failure, despite a large ventricular septal defect. Most often, patients present with progressive cyanosis, despite an early successful palliative procedure.

Answer: Inflammatory bowel diseaseThe inflammatory bowel diseases (IBDs), including ulcerative colitis and Crohn disease, are chronic inflammatory disorders of the gastrointestinal tract most often diagnosed in adolescence and young adulthood, with a rising incidence in paediatric populations. Inflammatory bowel disease is caused by a dysregulated mucosal immune response to the intestinal microflora in genetically predisposed hosts. Although children can present with the classic symptoms of weight loss, abdominal pain, and bloody diarrhoea, many present with nonclassical symptoms of isolated poor growth, anaemia, or other extraintestinal manifestations.Colorectal Carcinoma (CRC) is rare in patients less than 20 years of age.

Juvenile myoclonic epilepsy is an epilepsy syndrome characterized by myoclonic jerks, generalized tonic-clonic seizures (GTCSs), and sometimes, absence seizures. The seizures of juvenile myoclonic epilepsy often occur when people first awaken in the morning. Seizures can be triggered by lack of sleep, extreme fatigue, stress, or alcohol consumption. Onset typically occurs around adolescence in otherwise healthy children. The causes of juvenile myoclonic epilepsy are very complex and not completely understood. Mutations in one of several genes, including the GABRA1 and the EFHC1 genes, can cause or increase susceptibility to this condition. Although patients usually require lifelong treatment with anticonvulsants, their overall prognosis is generally good.

Erythema Migrans is associated with Lyme disease, a tic transmitted infection caused by the spirochete Borrelia Burgdorferi. The rash usually appears at the bite site after 7 to 10 days. It is flat or slightly raised and migrates as the name suggests. Streptococcal throat infection and Crohn’s disease are both associated with erythema nodosum.Herpes simplex and Rheumatic fever may present with Erythema Multiforme and Erythema Marginatum respectively.