Prepubertal atrophic vaginitis is due to a lack of vaginal oestrogen. The pathophysiology behind prepubertal atrophic vaginitis:1.The proximity of the vagina to the anus2.Lack of oestrogen – leads to thinning of the vaginal mucosa3.Lack of pubic hair to protect the area4.Lack of labial fat pads

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disease. The Lisch nodule represents one of the most common NF1 ocular manifestations.NF1 is caused by a genetic mutation which can cause tumours to grow on nerve endings; these cutaneous neurofibromas are benign tumours which grow on the skin, often first appearing during the hormonal changes that occur in teenage years. They vary in size and can appear anywhere on the body. The number of neurofibromas present differs greatly between individuals and over a lifetime Cafe au lait spots (coffee coloured birthmarks) are often the first and most common sign of NF1, and these are often found at birth and are usually evident by 2 years of age.Other features of NF1 can include Lisch nodules of the iris (small pigmentation in the iris which causes no disturbance to vision), skin-fold freckling (freckling/pigmentation in the groyne and armpits), plexiform neurofibromas (or sub cutaneous neurofibromas) which are diffuse tumours that grow along a nerve and are found in at least 25 % of people with NF1, optic gliomas (tumour of the optic nerve), and skeletal complications including pseudarthrosis and scoliosis. Macrocephaly (large head size) is also common, and short stature is found in around a third of people with NF1. Rare complications include a risk of malignancy, organs being compromised by neurofibromas, seizures, and hypertension.

Transient tachypnoea of the new-born (TTN) is the commonest cause of respiratory distress in new-borns and self-limiting. It can affect any new-born shortly after birth. Its most prominent feature is tachypnoea. Nasal flaring, grunting, or intercostal retractions may also be present.

E. coli accounts for the majority of UTI’s in children. If this child responds well to treatment and has no recurrence of his symptoms, then no form of imaging is required, as per NICE advice for children aged 6 months to 3 years. Had the child been less than 6 months of age, then a USS at 6 weeks would be necessary.Other options:- Pseudomonas causes atypical UTI. This warrants ultrasonography within the acute illness phase as it may reflect an underlying pathology and DMSA at 4-6 months.- Recurrent UTI is defined as two or more episodes of pyelonephritis OR 1 pyelonephritis and one cystitis OR 3 or more cystitis. It requires USS at six weeks and DMSA at 4-6 months.- Septicaemia is a sign of an atypical UTI. This requires USS within the acute illness as it may reflect an underlying pathology and DMSA at 4-6 months.- Unwell 48hrs post antibiotics is a sign of an atypical UTI. This requires USS within the acute illness as may reflect underlying pathology and DMSA at 4-6 months.

Ataxic gait is not a direct association of Down’s syndrome. All other given responses are associated with Down’s syndrome.

Ipecac, or syrup of ipecac (SOI), is a medication once used to induce vomiting. Its medical use has virtually vanished, and it is no longer recommended for routine use in toxic ingestion. The abuse of SOI as a purgative in eating disorders, however, is increasing. Ipecac has a high safety profile. Common side effects include prolonged vomiting (greater than 1 hour), lethargy, somnolence, diarrhoea, fever, irritability. More severe complications can consist of aspiration pneumonia, Mallory-Weiss tears, pneumomediastinum, and gastric rupture.The abuse of syrup of ipecac by patients with major eating disorders have been shown to have toxic effects on the skeletal and cardiac muscle.

Congenital hypertrophy of the retinal pigment epithelium is one of FAP’s extra-intestinal manifestations. It appears in early childhood and affects an estimated 90% of those with FAP.

Orbital bone fracture: The child has sustained a head injury and subsequently describes a CSF rhinorrhoea (indicating a cerebro-spinal fluid leak). CSF rhinorrhoea can occur in skull or nasal bone fractures. Given the symptoms of loss of consciousness and headache, this child is more at risk of having suffered a skull fracture requiring emergency CT head investigation and specialist neurosurgical management. An ethmoid bone fracture may also present this way. A skull x ray would help to determine an air fluid level and indeed allow some visualisation of the nasal bones, though in children the nasal bones do not visualise well due to lack of fusion. Either way this child would need assessment in the nearest Emergency Department and the school would be expected to follow a ‘head injury’ protocol.

Bone age is used to determine the maturation of a child’s bones’ and is used to detect pathological growth. This is done using the X-ray of the wrist. Several conditions can either advance or delay the bone age such that they may not match the child’s chronological age. Bone age is advanced in conditions where there are prolonged or elevated sex hormone levels such as precocious puberty, or in genetic overgrowth conditions such as Beckwith-Wiedemann syndrome. Bone age is delayed in constitutional growth delay, chronic ill health, endocrine disorders such as growth hormone deficiencies or hypothyroidism, genetic disorders such as Trisomy 21, Trisomy 18, and Turner’s syndrome. Obesity is unlikely to cause growth delay.

The median nerve is a peripheral nerve originating in the cervical roots C5-T1 of the brachial plexus. It supplies motor innervation to the anterior forearm flexors, the thenar muscles, and the two lateral lumbricals as well as sensory innervation to the lateral palm and anterior, lateral three and a half fingers. Motor and sensory deficits depend on whether the lesion is proximal (above the elbow) or distal (below the elbow). While proximal lesions present with the hand of benediction,ť distal lesions present with either the pinch signť (anterior interosseous nerve syndrome) or, in the case of carpal tunnel syndrome, with mildly impaired thumb and index finger motion. Both proximal lesions and carpal tunnel syndrome result in reduced sensation in the area of the thumb, index and middle finger. Anterior interosseus nerve syndrome does not cause any sensory deficits. Chronic injuries to the nerve result in atrophy of median nerve innervated muscles while acute injuries do not have this feature. Treatment is mostly conservative and focuses on rest and immobilization.

Cystic fibrosis is a life-threatening disorder that causes the build up of thick mucus in the lungs, digestive tract, and other areas of the body. It is a hereditary autosomal-recessive disease caused by mutations of the CFTR gene. Cystic fibrosis eventually results in bronchiectasis which is defined as a permanent dilatation and obstruction of bronchi or bronchioles.

Capillary haemangiomas (strawberry naevi) are very common benign tumours that may appear in infancy. This particular case requires a close follow-up to monitor the naevus’ size and make sure it doesn’t expand or gets bigger, affecting the baby’s visual field.It is more common in preterm babies and girls are 3x more commonly affected than boys. It presents at birth in 30%, and is a focal and solitary in 80% of cases, most commonly found on the head and neck (60%), followed by the trunk (25%) and extremities (15%).

Diarrhoea is defined as having three or more loose or liquid stools per day, or as having more stools than is normal for that person. Severe diarrhoea, causing fluid loss and loss of bicarbonate, will result in marked dehydration and metabolic acidosis.

A height that is above the 97th percentile for age and sex is described as a tall stature. The most common cause of tall stature is constitutional or familial, followed by nutritional causes. Hormonal causes of tall stature include hyperthyroidism, growth hormone excess, and precocious puberty. Some important chromosomal and syndromic causes of tall stature are Klinefelter’s syndrome, homocystinuria, Marfan’s syndrome, Sotos syndrome, Beckwith-Weidman syndrome, and Weaver syndrome. Laurence-Moon syndrome is an autosomal recessive disorder characterized by short stature, retinitis pigmentosa, and spastic paraplegia.

Hirschsprung’s disease is characterized by congenital absence of the autonomic plexus (Meissner’s and Auerbach’s plexus) in the intestinal wall. Usually limited to the distal colon, it can occasionally involve the entire colon or even the small bowel. There is abnormal or absent peristalsis in the affected segment, resulting in continuous spasm of smooth muscle and partial/complete obstruction. This causes accumulation of intestinal contents and dilatation of proximal segment. Skip lesions are highly uncommon. This disease is seen early in life with 15% patients presenting in first month, 60% by 1 year of age and 85% by the age of 4 years. Symptoms include severe and complete constipation, abdominal distension and vomiting. Patients with involvement of ultra-short segments might have mild constipation with intervening diarrhoea. In older children, symptoms include failure to thrive, anorexia, and lack of an urge to defecate. On examination, an empty rectum is revealed with stool palpable high up in the colon. If not diagnosed in time, it can lead to Hirschsprung’s enterocolitis (toxic megacolon), which can be fulminant and lead to death. Diagnosis involves a barium enema or a rectal suction biopsy. Barium enema shows a transition in diameter between the dilated, normal colon proximal to the narrowed, affected distal segment. It is to be noted that barium enema should be done without prior preparation, which can dilate the abnormal segment, leading to a false-negative result. A 24-hour post-evacuation film can be obtained in the neonatal period -if the colon is still filled with barium, there is a high likelihood of Hirschsprung’s disease. Full-thickness rectal biopsy is diagnostic by showing the absence of ganglion cells. Acetylcholinesterase staining can be done to highlight the enlarged nerve trunks. Abnormal innervation can also be demonstrated by rectal manometry.

According to the Rumack-Matthew Normogram, accurate levels of paracetamol can be measured only between 4-15 hours. The levels measured before 4 hours post-ingestion would highly underestimate the level of paracetamol ingested.The patient in question presents 2 hours after ingestion. Hence the most appropriate time to measure the levels of acetaminophen would be a further 2 hours later. Other options:- Note that the treatment with NAC can be delayed until the 4-hour level is obtained and compared to the nomogram.- Furthermore, haemodialysis is only indicated if she develops hepato-renal syndrome that is likely to occur 72-96 hours post-ingestion.- Indications for acute liver transplantation include persistent acidosis, hepatorenal syndrome and worsening coagulopathy.

Deficiency of 21-hydroxylase, resulting from mutations or deletions of CYP21A, is the most common form of Congenital Adrenal Hyperplasia, accounting for more than 90% of cases.Females with mild 21-hydroxylase deficiency are identified later in childhood because of precocious pubic hair, clitoromegaly, or both, often accompanied by accelerated growth and skeletal maturation (simple virilizing adrenal hyperplasia)Diagnosis of 21-hydroxylase deficiency: High serum concentration of 17-hydroxyprogesterone (usually >1000 ng/dL) and urinary pregnanetriol (metabolite of 17-hydroxyprogesterone) in the presence of clinical features suggestive of the disease; 24-hour urinary 17-ketosteroid levels are elevated

A teratoma is a tumour containing tissue elements that are similar to normal derivatives of more than one germ layer. They usually contain skin, hair, teeth and bone tissue and are more common in children, behaving as a benign tumour. After puberty, they are regarded as malignant and can metastasise.

The incubation periods of disorders is extremely important to diagnose, treat, prevent or attenuate a disease. Chickenpox: 7-21 days. Whooping cough: 10-14 days. Hand, foot and mouth disease: 2-6 days. German measles: 14-21 days. Mumps: 14-18 days.

The equation, lung function = 3.2 + (1.7 x height) is linear, but this does not necessarily mean that the relationship itself is linear. The equation is able to predict that taller individuals are more likely to have greater lung functions. No information is given on whether the coefficients and the R value are statistically significant.

Intussusception is an urgent condition that must be excluded first as it may lead to life-threatening complications.

Umbilical hernias are common in young children and they carry a low risk of incarceration as compared to inguinal hernias. About 90% umbilical hernias resolve by the age of 4 years. The best management for young children is to wait for resolution without surgical repair, unless there are complications. Parents should be assured that the child does not need to be referred to the general surgeon, nor should any home remedies such as taping a coin over the hernia be encouraged. If after the age of 4 it has not resolved, then surgery is indicated. This also applies to girls to prevent an unsightly hernia should she get pregnant.

Coeliac disease is associated with the following conditions:- Dermatitis herpetiformis- Autoimmune disorders (e.g. thyroid disease, pernicious anaemia, diabetes)- IgA deficiency- Small-bowel malignancy, particularly lymphoma, if the gluten-free diet is not followed.Serology testing: The IgA tissue transglutaminase antibody is the most sensitive and specific, compared with the anti-endomysial antibody. However, false negatives will occur in children who are IgA-deficient, and IgA levels should be taken at the same time. Other options:Distal obstruction syndrome, meconium ileus, pancreatitis and rectal prolapse are all gastrointestinal manifestations of cystic fibrosis.

The study described in the question is a ‘cohort’ study.Other options:A prospective observational study – When groups are classified according to one or more factors at a given time and followed forward to determine outcomes (usually some health status)- Although there is in one sense a control group (those who do not develop the health problem), this is not generally called a ‘controlled’ trial. – An ecological study would look at outcomes in different groups (countries or regions usually) who follow different practices.

Breast milk jaundice is thought to be associated with one or more abnormalities in the maternal milk itself. Breast milk jaundice syndrome generally needs no therapy if serum bilirubin concentrations remain below 270 mmol/l in healthy full-term infants. When the serum bilirubin concentration is above 270 mmol/l and rising, temporary interruption of breastfeeding may be indicated.

Presentation can vary by individual. Early stages are often characterized by malaise, fatigue, and lethargy. One to 3 months of inadequate intake can lead to anaemia, myalgia, bone pain, easy bruising (Figure 3), swelling, petechiae, perifollicular haemorrhages, corkscrew hairs, gum disease, poor wound healing, mood changes, and depression. Perifollicular haemorrhages and easy bruising are often first seen in the lower extremities, as capillary fragility leads to an inability to withstand hydrostatic pressure. Late stages of scurvy are more severe and life threatening; common manifestations include generalized oedema, severe jaundice, haemolysis, acute spontaneous bleeding, neuropathy, fever, convulsions, and death.

Atopic dermatitis (AD), also called atopic eczema, is a common chronic or recurrent inflammatory skin disease and affects 15-20% of children and 1-3% of adults worldwide. It is characterized by acute flare-ups of eczematous pruritic lesions over dry skin.The incidence has increased by 2- to 3-fold during the past decades in industrialized countries.Some of the most valuable AD prevalence and trend data have come from the International Study of Asthma and Allergies in Childhood (ISAAC). This is the biggest (close to 2 million children in 100 countries) and only allergy study that has taken a truly global approach. The strength of the study is the use of a uniformly validated methodology allowing a direct comparison of results between paediatric populations all over the world (http://isaac.auckland.ac.nz/index.html).

Supination is the rotation of the forearm so that the palm of the hand faces anteriorly. This is performed by the biceps brachii and supinator of the extensor muscles of the thumb. The opposite action of moving the palm from an anterior-facing position to a posterior-facing position is called pronation. Pronation is performed by the pronator teres and pronator quadratus.

The inferior alveolar nerve supplies all the teeth of the respective hemimandible. It transverses the inferior alveolar canal and is a branch of the trigeminal nerve’s mandibular division. Therefore, in this case, the teeth of the right hemimandible will be numb.

The clinical presentation is suggestive of congenital rubella syndrome. The classic triad of presenting symptoms includes sensorineural hearing loss, ocular abnormalities (cataract, infantile glaucoma, and pigmentary retinopathy) and congenital heart disease (patent ductus arteriosus and pulmonary artery stenosis). Other findings in congenital rubella syndrome include CNS abnormalities (mental retardation, behavioural disorders, encephalographic abnormalities, hypotonia, meningoencephalitis, and microcephaly), hepatosplenomegaly, and jaundice.