The Five P’s: pain, pulselessness, paraesthesia, paralysis, and pallor, are the most common symptoms of compartment syndrome. However, late signs of the condition include the absence of distal pulses.

Hypogonadotropic hypogonadismIn Kallmann syndrome: impaired migration of GnRH cells and defective olfactory bulb → ↓ GnRH in hypothalamus → ↓ FSH and ↓ LH → ↓ testosterone and ↓ oestrogenIn hypothalamic and/or pituitary lesions: ↓ pituitary gonadotropins (↓ FSH and ↓ LH) → ↓ testosterone and ↓ oestrogen

Bone age is a valuable tool for determining the skeletal maturation in children. An X-ray of the left hand and wrist or knee is used to calculate bone age, which is then compared with the chronological age of the subject to know if the bone age is advanced or delayed. Certain standardized methods are used to score skeletal maturity, the most common methods are the Tanner-Whitehouse (TW) and Greulich-Pyle (GP) methods. The growth plate comprises a resting zone, a proliferative zone, hypertrophic cartilage zone, calcified cartilage zone, and then the ossification zone. This is the zonal distribution from the epiphysis to the diaphysis. After the closure of growth plates, spinal growth still occurs to some extent, adding up to the final height. The growth plates in boys close at around 17 to 19 years of age, while in girls, they close at around 13 to 15 years.

The differentiation between type 1 and type 2 epithelia in the developing lung buds is evident from 16-24 weeks of gestation.Development of the respiratory tract has five stages:- Embryonic (at 4 – 5 weeks of gestation):Formation of lung buds, trachea and mainstem bronchi occur. These structures are formed from a ventral outpouching of foregut pharynx. At this stage, the beginnings of the five lung lobes are present.- Pseudoglandular (at 5 – 16 weeks of gestation):Formation of terminal bronchioles, cartilage and smooth muscles occur in this stage. – Canalicular (at 16-24 weeks gestation): Differentiation of type I and II epithelial cells can be done in this stage. There is also an increase in the size of proximal airways).- Saccular (at 24 – 40 weeks of gestation): Terminal saccule formation occurs. Production of surfactant takes place at this stage with an increase in the number of goblet cellsUp to half the adult number of alveoli are in place by this stage.- Alveolar (occurs between 32 weeks of gestation till the post-natal age 8): Formation of alveoli and septation occurs with the expansion of air spaces.

The external auditory canal (EAC) extends from the auricle to the tympanic membrane. Its lateral portion is fibrocartilaginous and its medial portion is bony. Its bony portion is formed by the tympanic portion of the temporal bone.

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.

By the age of 3 months Jasmine should startle to loud noises, recognise her parents voices and turn to them when they are speaking, and should quiet down or smile at the sound of a familiar voice when crying. She should also cry when she is uncomfortable or irritated. By the time Jasmine is 9 months old she would begin to understand and respond to the word ‘no’ as well as other easy commands. She would be able vocalise and babble with repetitive sounds, and imitate adults’ playful sounds. She would be much less likely startled by loud noises.

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.

An appendicular mass, on the whole, is managed medically with intravenous antibiotics and monitoring for signs of obstruction or on-going sepsis. If the child is not responding to medical management, then surgery is performed. This is due to the high morbidity risk associated with operating on an appendicular mass. Consent for a limited right hemi-colectomy must be taken after explaining the increased risk of complications. The decision whether or not to perform an interval appendicectomy is controversial and currently subject to a multicentre national trial. The likelihood of another episode of appendicitis is 1 in 5. Other options:- Ultrasound and clinical examination is sufficient to confirm the diagnosis, especially in a boy. This may not be the case in females.- Majority of appendicular masses respond to conservative management. – Raised CRP indicates significant inflammatory response and thus intravenous antibiotics are indicated. – Intravenous antibiotics are indicated due to sepsis. Oral antibiotics are not sufficient to tackle sepsis in this scenario.

Clinical diagnosis of neurofibromatosis type 1 requires the presence of at least 2 of 7 criteria to confirm the presence of neurofibromatosis, type 1. Many of these signs do not appear until later childhood or adolescence, and thus confirming the diagnosis often is delayed despite a suspicion of NF1. The 7 clinical criteria used to diagnose NF1 are as follows:- Six or more café-au-lait spots or hyperpigmented macules greater than 5 mm in diameter in prepubertal children and greater than 15 mm postpubertal- Axillary or inguinal freckles (>2) – Two or more typical neurofibromas or one plexiform neurofibroma- Optic nerve glioma- Two or more iris hamartomas (Lisch nodules), often identified only through slit-lamp examination by an ophthalmologist- Sphenoid dysplasia or typical long-bone abnormalities such as pseudarthrosis- A first-degree relative (e.g., mother, father, sister, brother) with NF1

Transient tachypnoea of the new-born is a condition associated with the delayed clearance of amniotic fluid from the new-born. The X-ray findings are typical of this condition. As the name implies and was noted in this patient, it is not a lasting condition and resolves within 24-72 hours after birth. The differential diagnoses usually present with different chest X-ray findings:- Aspiration pneumonia shows infiltrates in the lower lobes of the lungs- Congenitally acquired pneumonia shows patchy, asymmetrical densities- Meconium aspiration shows hyperinflation and patchy asymmetric airspace disease- Pulmonary oedema shows cephalization of pulmonary veins and indistinctness of the vascular margins.

6 month old milestones:Social and Emotional:Knows familiar faces and begins to know if someone is a stranger Likes to play with others, especially parents Responds to other people’s emotions and often seems happy Likes to look at self in a mirror Language/Communication:Responds to sounds by making sounds Strings vowels together when babbling (“ah,” “eh,” “oh”) and likes taking turns with parent while making sounds Responds to own name Makes sounds to show joy and displeasure Begins to say consonant sounds (jabbering with “m,” “b”) Cognitive (learning, thinking, problem-solving):Looks around at things nearby Brings things to mouth Shows curiosity about things and tries to get things that are out of reach Begins to pass things from one hand to the other Movement/Physical Development:Rolls over in both directions (front to back, back to front) Begins to sit without support When standing, supports weight on legs and might bounce Rocks back and forth, sometimes crawling backwards before moving forward

The age of the patient and the presence of immature white blood cells are suggestive of leukaemia. Hodgkin’s disease is unlikely in this age group and it usually presents with lymphadenopathy. In HIV, immature white blood cells are not present in the blood.

The presenting features and the surgical site provided in the clinical scenario are highly suggestive of ipsilateral hypoglossal nerve injury.Note:Three cranial nerves may be injured during submandibular gland excision.- Marginal mandibular branch of the facial nerve- Lingual nerve- Hypoglossal nerveHypoglossal nerve damage may result in the paralysis of the ipsilateral aspect of the tongue. The nerve itself lies deep to the capsule surrounding the gland and should not be injured during an intracapsular dissection. The lingual nerve is probably at higher risk of injury. However, the effects of lingual nerve injury are predominantly sensory rather than motor.Thus, the most appropriate answer is the hypoglossal nerve.

Vesicoureteric reflex (VUR) is described as the retrograde flow of urine from the bladder into the ureter due to an incompetent uterovesical junction. In primary VUR the lower urinary tract functions normally, while secondary VUR is associated with a poorly functioning lower urinary tract. The incidence of VUR is highest in new-born girls. They can present with hydronephrosis, or urinary tract infections.

Language/Communication milestones of 2 years old:Points to things or pictures when they are named Knows names of familiar people and body parts Says sentences with 2 to 4 words Follows simple instructions Repeats words overheard in conversation Points to things in a book

The correct answer is triple X syndrome with a genotype of XXX and an almost normal female phenotype. The extra X chromosome is inactive. The final phenotype of an individual is determined after normal sexual and gonadal differentiation, a process that involves several genes located on chromosomes X and Y. Disorders of sexual differentiation result in cases of ambiguous genitalia and are caused by a number of genetic abnormalities. Among these disorders is the turner syndrome with a genotype of 45X0, characterized by gonadal dysgenesis and ovarian failure. DAX-1 gene mutation leads to congenital adrenal hypoplasia and hypogonadotropic hypogonadism, which results in virilization of female external genitalia. Campomelic dysplasia results from mutation of the SOX-9 gene, leading to 46XY sex reversal. Danys-Drash syndrome is characterized by disordered sexual development in affected males due to the mutated WT-1 gene, which also causes Wilm’s tumour.

The child has Chronic suppurative otitis media (CSOM) which is defined as a perforated tympanic membrane with persistent drainage from the middle ear for more than 2-6 weeks.CSOM differs from chronic serous otitis media in that chronic serous otitis media may be defined as a middle ear effusion without perforation that is reported to persist for more than 1-3 months. Patients with chronic suppurative otitis media (CSOM) present with a draining ear of some duration and a premorbid history of recurrent acute otitis media, traumatic perforation, or the placement of ventilation tubes. Typically, they deny pain or discomfort. A common presenting symptom is hearing loss in the affected ear. Reports of fever, vertigo, and pain should raise concerns about infratemporal or intracranial complications. A history of persistent CSOM after appropriate medical treatment should alert the physician to consider cholesteatoma.The external auditory canal may or may not be oedematous and is not typically tender. The discharge varies from fetid, purulent, and cheese like to clear and serous. Granulation tissue is often seen in the medial canal or middle ear space. The middle ear mucosa visualized through the perforation may be oedematous or even polypoid, pale, or erythematous.

The most probable diagnosis for the patient would be DiGeorge syndrome due to 22q11 deletion. It causes embryonic defects of the third and fourth branchial arches. It is sporadic in 90% of cases and 10 % inherited from parents as autosomal dominant.Characterised by distinct facial features (micrognathia, cleft palate, short philtrum, and low-set ears), hypocalcaemia, mental retardation, cardiac defects (especially tetralogy of Fallot), and immune deficiencies.A useful memory aid is CATCH-22:- Cardiac defects- Abnormal facial features- Thymic aplasia/hypoplasia- Cleft palate- Hypocalcaemia/Hypoparathyroidism- 22 – Due to 22q11 deletion

Howell-Jolly bodies are often seen in post-splenectomy cases, together with Pappenheimer bodies, target cells and irregular contracted red blood cells. The loss of splenic tissue results in the inability to readily remove immature or abnormal red blood cells from the circulation.