Precocious puberty is the attainment of normal pubertal biochemical and physical features at an abnormally early age. The age cut-offs commonly used to define precocious puberty are 8 years for females and 9 years for males. Precocious puberty may be central (true) or peripheral (false) based on the aetiology. Central precocious puberty is due to the premature activation of the hypothalamic-pituitary-gonadal axis, which in turn leads to the development of secondary sexual characteristics at an earlier than usual age. Central precocious puberty is mostly idiopathic, but other causes include congenital or prolonged, untreated hypothyroidism, congenital or acquired central nervous system pathologies, and several genetic syndromes like Silver-Russell syndrome. The other mentioned choices cause peripheral or false precocious puberty.

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.

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.

Haemophilia is a X-linked recessive disorder. In X-linked recessive inheritance only males are affected. An exception to this seen in examinations are patients with Turner’s syndrome, who are affected due to only having one X chromosome. X-linked recessive disorders are transmitted by heterozygote females (carriers) and male-to-male transmission is not seen. Affected males can only have unaffected sons and carrier daughters.

Maternal smoking is one of the most significant risk factors for pyloric stenosis.Remember the three Ps for Pyloric Stenosis:P – palpable massP – peristalsisP – projectile vomiting

The trigeminal nerve is responsible for the sensory innervation of the head, and the muscles of mastication. The nerve is divided into three branches, the ophthalmic nerve (V1) the mandibular nerve (V2) and the maxillary nerve (V3) which all exit the skull through their respective foramina. An easy way to remember these foramina is with the following mnemonic:Standing Room Only, for V1-V3 respectivelyV1- Superior orbital FissureV2- foramen RotundumV3 foramen Ovale

Stridor is a sign of upper airway obstruction. One of the most common causes of stridor in children is laryngomalacia. In the absence of laryngomalacia, stridor presenting with respiratory distress, few chest signs and no preceding coryza symptoms or fever all point to the inhalation of a foreign object. This is common in children, with a peak incidence between 1 and 2 years of age. This child did not present with a high temperature, usually indicative of epiglottitis . The incidence of epiglottis has decreased due to the H. Influenza type b vaccine. Additionally viral croup and bronchiolitis present with upper respiratory tract infection. Asthma rarely presents with stridor but is rather associated with a wheeze.

Embryologically the testes are retroperitoneal structures in the posterior abdominal wall, attached to the anterolateral abdominal wall by the gubernaculum. The gubernaculum ‘pulls’ the testes through the deep inguinal ring, inguinal canal and superficial inguinal ring and over the pelvic brim. The gubernaculum is preceded by the processus vaginalis that is derived from the peritoneum anterior to the testes. The processus vaginalis pushes the muscle and fascial layers. These eventually make up the canal and the spermatic cord, into the scrotum. The gubernaculum persists as the scrotal ligament while part of the processus vaginalis remains as a bursa-like sac i.e. the tunica vaginalis testes. The testes therefore could be caught in any one of these places along its path of descending. The testes are never in the perineum.

All of the presenting features of the child are suggestive raised intracranial pressure. Thus, urgent treatment with 20% Mannitol can improve the child’s condition. Mannitol is an osmotic diuretic that is used in the treatment of raised intracranial pressure. It should be avoided in hypovolaemia because of its diuretic effects. Other options:- Head up at 15°: Keeping the head up at 20° in the midline will aid venous drainage. – Maintain CO2 at 5 kPa: If there is an acute rise in intracranial pressure, then lowering the CO2 to 4–4.5 kPa as a temporary measure can be beneficial. However, this must be only short-lived since it causes vasoconstriction and can impair cerebral blood flow. – 10% glucose bolus: Maintaining normoglycemia in traumatic brain injury is important. – 0.9% saline infusion: Hypertonic saline infusion of 3% can reduce intracranial pressure. 0.9% saline as a bolus could be beneficial if there were hypotension.

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.

Human breast milk composition changes with the progressive age of the infant. Breastmilk produced for a preterm baby often has a higher caloric content than breastmilk for a term baby. After the production of colostrum in the first days of life, the milk continues to mature. by week 4-6 milk can be considered fully mature. The average calories found in mature breastmilk are about 70kcal/100ml

Recommended regimens3 NRTI (e.g., zidovudine, lamivudine, abacavir) OR2 NRTI (e.g., lamivudine + abacavir) AND1 NNRTI (e.g., efavirenz) OR1 PI (e.g., lopinavir) OR1 INI (e.g., raltegravir)

Case control studies are observational studies which retrospectively determine whether a patient might have been exposed to a risk factor for a certain disease, as compared to a control group from the general population. They can be used for a range of outcomes as well as rare diseases. One of the biggest problems with this type of study is recall bias. Research subjects may selectively remember factors that are more predictive of the disease outcome when compared to the control group. All studies should have prior power calculations before the study commences.

The combination of frequent infections, eczema, and thrombocytopaenia are characteristic of Wiskott-Aldrich syndrome, which is due to an abnormality in the WASP gene. It is an X-linked recessive disorder that causes primary immunodeficiency owing to a combined B- and T-cell dysfunction.The other listed options are:1. PKD1: polycystic kidney disease2. CFTR: cystic fibrosis3. HFE1: haemochromatosis4. RET: multiple endocrine neoplasia, Hirschsprung’s disease

People with Systemic Juvenile Idiopathic Arthritis (also known as Stills disease) can have recurrent fevers, a macular rash, joint pain, joint deformities, an enlarged liver and/or spleen, and can occasionally have polyserositis, lung involvement or pericardial effusions. Rheumatoid factor and antinuclear antibodies are usually negative. Treatment is with non-steroidal anti-inflammatory drugs (NSAIDs) and the prognosis is better than for adult rheumatoid arthritis.In pauciarticular Still’s disease, antinuclear antibodies are present. Large joints are affected and most patients develop classic features of seronegative spondylarthritis.

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).

Based on the clinical scenario, the boy is going through normal pubertal changes.In the 3 years before puberty, low pulsatile LH levels become detectable during sleep. LH and FSH are produced in the anterior pituitary and released due to pulsatile gonadotrophin-releasing hormone (GnRH) secreted by the hypothalamus. There is an increase in the amplitude and frequency of LH secretion as puberty approaches, which causes enlargement of the gonads. In boys, the testicles produce testosterone, and in girls, the ovaries produce oestradiol and ovarian androgens, which, with the adrenal androgens, produce secondary sexual characteristics.Note:The average age at onset of puberty is 11 years in girls. The first sign is breast bud development, followed by the appearance of pubic hair 6–12 months later. Menarche usually occurs 2–2.5 years after breast bud development. Peak height velocity in girls occurs at breast stage 2–3 and virtually always precedes menarche. The onset of puberty in boys is at 11.5 years. The first sign is testicular enlargement (>3 ml) and thinning of the scrotum. This is followed by the pigmentation of the scrotum and growth of the penis, and pubic hair follows. Peak height velocity (growth spurt) is two years later in boys than in girls and occurs at testicular stage 4–5 (i.e. testicular volume 10–12 ml), which is around 13–14 years of age. Breast enlargement occurs in 40–60% of boys (rarely, significant enough to cause social embarrassment in 10%) and is a result of oestradiol produced by the metabolism of testosterone. It usually resolves within three years. During puberty, elongation of the eye often occurs, causing short-sightedness.

Hypercalcemia refers to increased serum calcium levels and is characterized by a number of significant constellations, including polyuria, muscle weakness, abdominal pain, fatigue, and cardiac arrhythmias. The causes of hypercalcemia can be classified as PTH-dependant causes and PTH-independent causes. The causes can be both congenital and acquired. The most common cause of PTH-dependent hypercalcemia is the primary or tertiary hyperparathyroidism, resulting from parathyroid gland tumours. Hyperparathyroidism is also associated with chronic renal failure. PTH-independent hypercalcemia is caused by William’s syndrome, hypervitaminosis (vitamin A and D intoxication), endocrinopathies (hyperthyroidism), various drugs (thiazide diuretics), and some inborn errors of metabolism. One of the congenital causes of PTH-independent hypercalcemia is idiopathic infantile hypercalcemia.

Precocious puberty is the attainment of normal pubertal biochemical and physical features at an abnormally early age. The age cut-offs commonly used to define precocious puberty are 8 years for females and 9 years for males. Precocious puberty may be central (true) or peripheral (false) based on the aetiology. Central precocious puberty is due to the premature activation of the hypothalamic-pituitary-gonadal axis, which in turn leads to the development of secondary sexual characteristics at an earlier than usual age. The best laboratory investigation to diagnose central precocious puberty is a gonadotropin-releasing hormone stimulation test, which is regarded as the gold standard. It requires the collection of multiple blood samples at different time points to measure FSH and LH levels. If the LH levels increase to >8IU/L after stimulation with GnRH, then the diagnosis of central precocious puberty is confirmed.

Grommets are small tubes surgically inserted into the tympanic membrane to drain viscous inflammatory fluid found in the middle ear in bilateral otitis media with effusion of more than three months duration. There is no indication against using in ear headphones or flying. Swimming or snorkelling can be reinforced with ear plugs. However immersion of the child’s head in soapy water is to be avoided as the water is more likely to enter the ear.

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.

Renal stones < 5mm generally pass spontaneously with adequate fluid intake. Stones 5mm-10mm with pain not resolving, require medical expulsive therapy with Nifedipine or Tamsulosin. For stones larger than 10mm, ESWL or Ureteroscopy is indicated. For stones as big as 2cm, percutaneous nephrolithotomy should be applied.

Jaundice is considered pathologic if it presents within the first 24 hours after birth. Although up to 60 percent of term new-borns have clinical jaundice in the first week of life, few have significant underlying disease.1,2 However, hyperbilirubinemia in the new-born period can be associated with severe illnesses such as haemolytic disease, metabolic and endocrine disorders, anatomic abnormalities of the liver, and infections. The risk factors here is the mothers blood ground which suggests the cause is fetal-maternal blood group incompatibility.

CMV infection is usually asymptomatic in adults. However, if the mother is infected for the first time during pregnancy then there is high chances of this infection passing on to the foetus. CMV infection can cause blindness, deafness, learning difficulties, restricted growth etc. Hepatitis B, herpes simplex, syphilis and HIV do not present with these classical signs of CMV infection in new-borns. It is estimated that 10 stillbirths occur in England and Wales every year due to CMV infection. The foetus is most at risk in early pregnancy. There is no effective prevention.

The next step in the management of this patient is starting a normal saline fluid bolus, following which we should send samples for blood culture, lactate and C-reactive protein. The patient is probably a case of anorexia nervosa (AN).Note:Children with AN are at higher risk of developing infections, and this needs to be considered in this case. Patients with AN may not respond in the usual fashion to sepsis as they may not mount a fever in response to infection. Hypoglycaemia (especially when severe or persistent despite correction) should raise the alarm for an infection as should tachycardia and cool peripheries. Children with severe AN are more likely to be bradycardic. Therefore, a tachycardia should cause the clinician to consider that another process is going on.Other options:- Correcting electrolyte abnormalities is, of course, very important. However, while these are awaited, one needs to consider that this patient is septic and managed accordingly. Children with anorexia nervosa (AN) may have a whole host of electrolyte abnormalities, some of which can be treated with oral or nutritional supplementation although sometimes intravenous correction is required. Electrolytes need to be checked frequently during admission because of the risk of refeeding syndrome, and dietetic input is required to advise on appropriate starting intake.- While maintenance fluids like dextrose are likely to be needed in this case, consideration needs to be given to the underlying cause of the hypoglycaemia. As the sugar has come up following a glucose bolus, a 10% dextrose infusion would be excessive.- An ECG should form a part of any assessment of a child with AN. In this case, it would not be the first thing| however, as part of the acute management of this child, cardiac monitoring should be commenced. One would usually expect a child with AN to be bradycardic so a tachycardia should raise suspicion that another process is going on.- Dietary input will be vital for this child’s ongoing management. However, their acute issues take precedence in this case. Nevertheless, a dietician should be informed and involved from an early stage.

Croup is the most common aetiology for hoarseness, cough, and onset of acute stridor in febrile children. Symptoms of coryza may be absent, mild, or marked. The vast majority of children with croup recover without consequences or sequelae.

Neuroanatomically, the frontal lobe is the largest lobe of the brain lying in front of the central sulcus. It is divided into 3 major areas defined by their anatomy and function. They are the primary motor cortex, the supplemental and premotor cortex, and the prefrontal cortex. Damage to the primary motor, supplemental motor, and premotor areas lead to weakness and impaired execution of motor tasks of the contralateral side. The inferolateral areas of the dominant hemisphere are the expressive language area (Broca area, Brodmann areas 44 and 45), to which damage will result in a non-fluent expressive type of aphasia.

Answer: Acute Epstein Barr virus infectionThe Epstein–Barr virus is one of eight known human herpesvirus types in the herpes family, and is one of the most common viruses in humans. Infection with Epstein-Barr virus (EBV) is common and usually occurs in childhood or early adulthood.EBV is the cause of infectious mononucleosis, an illness associated with symptoms and signs like:fever,fatigue,swollen tonsils,headache, andsweats,sore throat,swollen lymph nodes in the neck, andsometimes an enlarged spleen.Although EBV can cause mononucleosis, not everyone infected with the virus will get mononucleosis. White blood cells called B cells are the primary targets of EBV infection.Petechiae on the palate are characteristic of streptococcal pharyngitis but also can be seen in Epstein–Barr virus infection, Arcanobacterium haemolyticum pharyngitis, rubella, roseola, viral haemorrhagic fevers, thrombocytopenia, and palatal trauma.

The most appropriate next step in the management of this patient would be to use E45 cream instead of soap. Using a greasier emollient and an antihistamine at night can also be trialled..Management of eczema:Treatment of eczema can be problematic, and thus, parents should be advised regarding simple, everyday measures that can relieve the symptoms. These include:- Using non-biological washing powder- Wearing cotton clothes as opposed to artificial fibres- Avoiding the use of soaps or shampoos and using E45 Cream as an alternative.- Additional use of bath oil (e.g. Oilatum) is found to be beneficial.- Regular emollient use is recommended and essential. The aim is to keep the skin from feeling dry at any time of day. Sedating with older types of antihistamines at night does not help to reduce itching, but when used in large doses, they occasionally provide a sedative effect which may improve sleep. If all these measures are in use, but the eczema is still not controlled, the escalation of treatment would be appropriate. Note: There is no evidence for the benefit of topical antibiotics.

Based on the clinical scenario provided, the most probable diagnosis for this patient would be tuberous sclerosis which is an autosomal dominant condition.Among the options provided, only Neurofibromatosis Type 1 is inherited by an autosomal dominant pattern. Other options:- Beckwith-Wiedemann syndrome is an example of an imprinting disorder and results from abnormalities of inheritance or methylation of chromosome 11p15.- Cystic fibrosis is an autosomal recessive condition.- Duchenne Muscular Dystrophy is an example of an X-linked recessive condition.- Hypophosphataemic (Vitamin D resistant) rickets is an X-linked dominant condition.