Among the given options, psoriasis is not associated with hypertrichosis.The causes of hypertrichosis include:- Drugs: minoxidil, ciclosporin, and diazoxide.- Congenital hypertrichosis lanuginosa and congenital hypertrichosis terminalis.- Porphyria cutanea tarda- Anorexia nervosa

Vagus nerve lesions will affect the gag reflex since the pharyngeal muscles are innervated by it.The vagal nerve (10th cranial nerve ) is a mixed nerve carrying motor efferents and sensory afferents. The nerve conducts five distinct qualities, which are carried along general visceral efferent fibres (parasympathetic innervation of pharyngeal, laryngeal, bronchial, and gastrointestinal mucosa), general visceral afferent fibres (sensory information from the thoracic and abdominal viscera, the aortic body, aortic arch), special visceral afferent fibres (carry the taste of the epiglottal region), general somatic afferent fibres (carry sensation from the external auditory meatus, outer tympanic membrane, back of the ear, part of meninges, pharynx), and along special visceral efferent fibres, which innervate skeletal muscles of the pharynx and larynx. Skeletal muscles innervated by the vagal nerve include the cricothyroid, levator veli palatini, salpingopharyngeus, palatoglossal, palatopharyngeus pharyngeal constrictor, and the laryngeal muscles (except cricothyroid). Innervation of these muscles is involved during speech or opening of the larynx during breathing. Efferent parasympathetic fibres control heart rate, peristalsis, and sweating. Stimulation of the efferent parasympathetic fibres lowers heart rate or blood pressure. 80–90% of the vagal fibres are afferent, only 10–20% are efferent fibresPhysical exam of the 10th cranial nerve includes eliciting the gag reflex (The gag reflex involves a brisk and brief elevation of the soft palate and bilateral contraction of pharyngeal muscles evoked by touching the posterior pharyngeal wall.), to look if the uvula is deviated from the side of the lesion, if there is failure of palate elevation upon phonation, and evaluation of speech impairment.In case of bilateral vagal nerve lesions, heart rate and breath rate may be increased. The somatic sensory function can be assessed by testing the sensibility of the external auditory meatus.

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.

The second pharyngeal arch or hyoid arch, is the second of six pharyngeal arches that develops in fetal life during the fourth week of development and assists in forming the side and front of the neck. Derivatives:
Skeletal – From the cartilage of the second arch arises:
Stapes,
Temporal styloid process,
Stylohyoid ligament, and
Lesser cornu of the hyoid bone.
Muscles:
Muscles of face
Occipitofrontalis muscle
Platysma
Stylohyoid muscle
Posterior belly of Digastric
Stapedius muscle
Auricular muscles
Nerve supply: Facial nerve

CSF is produced mainly by a structure called the choroid plexus in the lateral, third and fourth ventricles. CSF flows from the lateral ventricle to the third ventricle through the interventricular foramen (also called the foramen of Monro). The third ventricle and fourth ventricle are connected to each other by the cerebral aqueduct (also called the Aqueduct of Sylvius). CSF then flows into the subarachnoid space through the foramina of Luschka (there are two of these) and the foramen of Magendie (only one of these).Absorption of the CSF into the blood stream takes place in the superior sagittal sinus through structures called arachnoid villi . When the CSF pressure is greater than the venous pressure, CSF will flow into the blood stream.

Diagnostic criteria of PCOsAccording to the American Association of Clinical Endocrinologists, at least two of three of the criteria below are required for diagnosis of PCOS after excluding other causes of irregular bleeding and elevated androgen levels.Hyperandrogenism (clinical or laboratory)Oligo- and/or anovulationPolycystic ovaries on ultrasoundDiagnosis of PCOS is possible without the presence of ovarian cysts.Rule out any other causes of hyperandrogenism and anovulation.Blood hormone levels↑ Testosterone (both total and free) or free androgen index↑ LH (LH:FSH ratio > 2:1)Oestrogen is normal or slightly elevated A clinical picture of hyperandrogenism overrules any normal hormone levels and can fulfil a diagnostic criterium of PCOS.

Primary sclerosing cholangitis (PSC) is a long-term progressive disease of the liver and gallbladder characterized by inflammation and scarring of the bile ducts which normally allow bile to drain from the gallbladder. Early cholangiographic changes can include fine or deep ulcerations of the common bile duct. As PSC progresses, segmental fibrosis develops within the bile ducts, with saccular dilatation of the normal areas between them, leading to the typical beads-on-a-string appearance seen on cholangiography. Although these strictures can be found anywhere on the biliary tree, the intrahepatic and extrahepatic bile ducts are simultaneously involved in the vast majority of cases.

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.

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.

In children, food-induced anaphylaxis is the most common trigger and accounts for 37 %–85 % of cases, whereas insect bites/stings account for 5 %–13 % and medications account for 5 %–12 % Despite differences between studies, food allergy is clearly the most common cause of anaphylaxis in children

A periosteal reaction can result from a large number of causes, including injury and chronic irritation due to a medical condition such as hypertrophic osteopathy, bone healing in response to fracture, chronic stress injuries, subperiosteal hematomas, osteomyelitis, and cancer of the bone. This history is consistent with a toddler’s fracture. Here a minor, usually twisting, injury results in a spiral fracture of the tibia. An initial X-ray may appear normal as the periosteum holds the bone together preventing displacement. Ten days later a repeat X-ray will show callous formation and confirm the diagnosis.

The patient has bloody diarrhoea that sounds like a food poisoning in the clinical scenario. Campylobacter is the most common cause of this in the United Kingdom. This is then followed by Salmonella and Shigella. The symptoms are usually self limiting. This is more likely to be bacterial from the food than a viral gastroenteritis.

Successful administration of median nerve block can be confirmed by the inability to abduct the thumb. The median nerve supplies all the muscles in the anterior compartment of the forearm, apart from the flexor carpi ulnaris and the flexor digitorum profundus to the outer two fingers: so these two fingers can still be flexed. There is a sensory loss to the thumb, index, middle and half of the ring fingers. Absence of thumb abduction due to paralysis of abductor pollicis brevis is a good test for median nerve paralysis.Other options:- The radial nerve supplies the extensors – hence wrist drop does not occur in this scenario. – The ulnar nerve supplies the skin of the ulnar side of the hand. Hence anaesthesia will not affect this area. – The ulnar nerve also supplies the interossei muscles of the hand, which affect abduction and adduction of the fingers.

Marfan syndrome is a disorder that affects the connective tissue found throughout the body, Marfan syndrome can affect many systems, often causing abnormalities in the heart, blood vessels, eyes, bones, and joints. The two primary features of Marfan syndrome are vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes and aortic root disease, leading to aneurysmal dilatation, aortic regurgitation and dissection is the main cause of morbidity and mortality in Marfan syndrome.

Advanced paternal age is associated with poor quality sperm leading to a reduction in overall fertility along with an increase in the occurrence of various medical disorders in the fetus. Advanced paternal age has been implicated as a risk factor for diseases like retinoblastoma, Marfan’s syndrome, neurofibromatosis, achondroplasia, autism spectrum disorders, schizophrenia, and acute lymphoblastic leukaemia. Down’s syndrome is mostly considered a consequence of advanced maternal age, but advanced paternal age has also been implicated as a risk factor. Turner syndrome is not found to be caused by advanced paternal age.

Maternal and fetal toxoplasma infection may be avoided by advising pregnant women to wear gloves when gardening or handling cat litter and to cook meat thoroughly. Affected babies are treated with pyrimethamine, sulfadiazine, and folic acid.

Tanner stage two presents with the following: Downy hair, Breast bud palpable under areola (1st pubertal sign in females).Stage 1 (prepubertal) – elevation of papilla only – no pubic hairStage 2 – breast bud forms – sparse, slightly pigmented hair on labia majoraStage 3 – Breast begins to become elevated, extends beyond areola borders – hair becomes more coarse and curlyStage 4 – increased size and elevation. Areola and papilla form secondary mound – adult like, but sparing medial thighsStage 5 – final size, areola returns but papilla remains projected – hair extends to medial thighs

Bitemporal hemianopia is a characteristic finding seen in patients with optic chiasm lesion.The pituitary gland is situated within the pituitary fossa. Just above the pituitary fossa is the optic chiasm and so any expanding masses from the pituitary gland commonly press on it, causing bitemporal hemianopia.Other options:- Compression of the optic nerve would not cause more severe, generalised visual loss. Also, the optic nerve is not anatomically related to the pituitary gland and so is unlikely to be directly compressed in the presence of a pituitary tumour.- The optic tract is again not closely anatomically related with the pituitary gland and so is unlikely to be directly compressed in the presence of a pituitary tumour. Also, damage to the optic tract on one side would cause homonymous hemianopia.- The lateral geniculate nucleus is a centre of cells in the thalamus and is unlikely to be compressed by a pituitary tumour. Its function is to convey sensory information from the optic tract to more central parts of the visual pathway.- The Edinger-Westphal nucleus is located at the level of the superior colliculus in the midbrain and so may not be compressed by an enlarging pituitary tumour.Other visual defects:- Left homonymous hemianopia: It is the visual field defect to the left, due to the lesion of the right optic tract.- Homonymous quadrantanopias are seen in parietal (inferior homonymous quadrantopia) and temporal lobe lesions (superior homonymous quadrantopia). Mnemonic: PITS (Parietal-Inferior, Temporal-Superior)A congruous defect means complete or symmetrical visual field loss, and conversely, an incongruous defect is incomplete or asymmetric.Incongruous defects suggest an optic tract lesion, while congruous defects suggest optic radiation or occipital cortex lesion.

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.

Eczema herpeticum is a form of Kaposi varicelliform eruption, characterized by extensive vesicular skin eruptions that arise from a pre-existing skin condition, usually atopic dermatitis. The most common pathogen is the herpes simplex virus type 1, which has a higher propensity of attacking the epidermis already damaged by atopic dermatitis. The incubation period of the illness is 5-14 days. The eruption is initially small, monomorphic, dome-shaped papulovesicles that rupture to form tiny punched-out ulcers. It is diagnosed by taking viral swabs for culture.

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

The baby most likely has umbilical granuloma – granulation tissue may persist at the base of the umbilicus after cord separation| the tissue is composed of fibroblasts and capillaries and can grow to more than 1 cm.Medical therapy is indicated only when an infection is present.Silver nitrate application to umbilical granulomas is usually successful. One or more applications may be needed. Care must be taken to avoid contact with the skin. Silver nitrate can cause painful burns. Small umbilical granulomas with a narrow base may be safely excised in the office setting. Large granulomas and those growing in response to an umbilical fistula or sinus do not resolve with silver nitrate and must be surgically excised in the operating room setting.

PDA is particularly common in premature babies and it is managed by indomethacin administration. However, if PDA is not the only defect, prostaglandin E1 can be administered in order to keep the ductus open until the surgery takes place.

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterized by intestinal hamartomatous polyps in association with a distinct pattern of skin and mucosal macular melanin deposition (freckles on the lips, face, palms and soles). Patients with Peutz-Jeghers syndrome have an estimated 15-fold increased risk of developing intestinal cancer compared to the general population.Management: conservative unless complications develop.

The characteristic cells in granulomatous inflammation are giant cells, formed from merging macrophages and epithelioid cells elongated with granular eosinophilic cytoplasm. Granulomatous reactions are seen in patients with tuberculosis. A tuberculous/caseating granuloma is characterised by a zone of central necrosis lined with giant multinucleated giant cells (Langhans cells) and surrounded by epithelioid cells, lymphocytes and fibroblasts. The caseous zone is present due to the damaged and dead giant cells and epithelioid cells.
Mast cells are only few in number and fibroblasts lay down collagen.
Basophils are not present.
The giant cell made up of macrophages are the most abundant cells in this inflammatory process.

An odds ratio (OR) is a measure of the association between an exposure and an outcome. The OR represents the odds that an outcome will occur given a particular exposure, compared to the odds of the outcome occurring in the absence of that exposure. Odds ratios are most commonly used in case-control studies, however they can also be used in cross-sectional and cohort study designs as well (with some modifications and/or assumptions). Wherea = Number of exposed casesb = Number of exposed non-casesc = Number of unexposed casesd = Number of unexposed non-casesOR=(a/c) / (b/d) = ad/bc

Blood culture and sensitivity will distinguish the bacteria that is responsible for the infection and the effective antibiotic treatment to which the bacteria is sensitive.

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.

Craniopharyngiomas (also known as Rathke pouch tumours, adamantinomas or hypophyseal duct tumours) affect children mainly between the age of 5 and 10 years. It constitutes 9% of brain tumours affecting the paediatric population. These are slow-growing tumours which can also be cystic, and arise from the pituitary stalk, specifically the nests of epithelium derived from Rathke’s pouch. Histologically, this tumour shows nests of squamous epithelium which is lined on the outside by radially arranged cells. Calcium deposition is often seen with a papillary type of architecture.
ACTH-secreting pituitary adenomas are rare and mostly microadenomas. Paediatric astrocytoma’s usually occur in the posterior fossa. Although null cell adenomas can cause mass effect and give rise to the described symptoms, they are not suprasellar. Prolactinomas can also show symptoms of headache and disturbances in the visual field, however they are known to be small and slow-growing.

Pierre Robin sequence is a condition present at birth, in which the infant has micrognathia, a tongue that is placed further back than normal (glossoptosis), and cleft palate. This combination of features can lead to difficulty breathing and problems with eating early in life. Pierre Robin sequence may occur isolated or be associated with a variety of other signs and symptoms (described as syndromic). The exact causes of Pierre Robin syndrome are unknown. The most common otic anomaly is otitis media, occurring 80% of the time, followed by auricular anomalies in 75% of cases. Hearing loss, mostly conductive, occurs in 60% of patients, while external auditory canal atresia occurs in only 5% of patients.