People with Gilbert syndrome have a build-up of unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia). In affected individuals, bilirubin levels fluctuate and very rarely increase to levels that cause jaundice. Gilbert syndrome is usually recognized in adolescence. If people with this condition have episodes of hyperbilirubinemia, these episodes are generally mild and typically occur when the body is under stress, for instance because of dehydration, prolonged periods without food (fasting), illness, vigorous exercise, or menstruation. Some people with Gilbert syndrome also experience abdominal discomfort or tiredness. However, approximately 30 percent of people with Gilbert syndrome have no signs or symptoms of the condition and are discovered only when routine blood tests reveal elevated unconjugated bilirubin levels.

The presentation of the child is highly suggestive of Henoch-Schonlein purpura (HSP). It is an IgA-mediated, autoimmune hypersensitivity vasculitis that targets the small vessels of the skin, GI tract, kidneys, and joints.It is most commonly seen in children aged 3 – 6 years old and is twice as common in boys than girls. Preceding viral URTI with low-grade pyrexia is common. The most common organism associated with HSP is, however, Group A streptococcal infection.A purpuric rash is seen on the back of the legs and buttocks and can less frequently affect the arms. Arthralgia is common (usually knees/ankles) in these patients.Abdominal pain and bloody diarrhoea may occur. And half of the children with HSP have renal involvement. Rarely, it can lead to end-stage renal failure.Treatment includes adequate hydration, occasionally steroids, and other immunosuppressants. The disease can recur in 1 in 3 children.

Topical treatments are useful in the treatment of mild Psoriasis, or as adjuvant therapy in ultraviolet and systematic treatments. These treatments include moisturisers, dithranol, coal tar, salicylic acid, topical immunomodulators such as calcineurin, topical retinoids, Vitamin D analogues and topical steroids. Topical steroids are known to have a number of side effects such as striae, atrophy of the skin, telangiectasia, acneiform rash, and easy bruising. Localised pustular psoriasis is also associated with topical steroids in higher doses. Use of more than 500 g of hydrocortisone or 50 g clobetasol propionate have been shown to suppress adrenal function. Calcitriol, a vitamin D analogue, is only available as an ointment and does not stain clothes and skin the way dithranol and coal tar are known to.

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.

6 month old babies that go through normal developmental milestones, should enjoy playing with others and especially their parents.The other milestones are expected of a 9-month-old.

Cortisol is secreted in a circadian pattern.The secretion of cortisol is regulated by the suprachiasmatic nucleus located in the hypothalamus.Other options:- FSH, LH, GH and prolactin are secreted in a pulsatile pattern, i.e. these hormones are secreted in an episodic manner rather than continuously.- Thyroxine is secreted in a continuous pattern, not pulsatile.- The secretion of ACTH is in response to stress.Secondary to stress, the hypothalamus secretes corticotrophin releasing hormones, which are transported to the pituitary gland via the hypophyseal–portal system. ACTH is then released by the pituitary gland and binds to its receptor on the adrenal gland, which releases cortisol.

Damage to the left parietal lobe can result in what is called Gerstmann’s Syndrome. It includes right-left confusion, difficulty with writing (agraphia) and difficulty with mathematics (acalculia). It can also produce disorders of language (aphasia) and the inability to perceive objects normally (agnosia).Damage to the right parietal lobe can result in neglecting part of the body or space (contralateral neglect), which can impair many self-care skills such as dressing and washing. Right side damage can also cause difficulty in making things (constructional apraxia), denial of deficits (anosognosia) and drawing ability.Bi-lateral damage (large lesions to both sides) can cause Balint’s Syndrome, a visual attention and motor syndrome. This is characterized by the inability to voluntarily control the gaze (ocular apraxia), inability to integrate components of a visual scene (simultanagnosia), and the inability to accurately reach for an object with visual guidance (optic ataxia)Special deficits (primarily to memory and personality) can occur if there is damage to the area between the parietal and temporal lobes.Left parietal-temporal lesions can affect verbal memory and the ability to recall strings of digits. The right parietal-temporal lobe is concerned with non-verbal memory.Right parietal-temporal lesions can produce significant changes in personality.

Erythema nodosum (EN) is an acute, nodular, erythematous eruption that usually is limited to the extensor aspects of the lower legs. Chronic or recurrent erythema nodosum is rare but may occur.Currently, the most common cause of erythema nodosum is streptococcal infection in children and streptococcal infection and sarcoidosis in adults.The eruptive phase of erythema nodosum begins with flulike symptoms of fever and generalized aching. Arthralgia may occur and precedes the eruption or appears during the eruptive phase. Most lesions in infection-induced erythema nodosum heal within 7 weeks, but active disease may last up to 18 weeks. In contrast, 30% of idiopathic erythema nodosum cases may last more than 6 months. Febrile illness with dermatologic findings includes abrupt onset of illness with initial fever, followed by a painful rash within 1-2 days.

Narcolepsy is a rare condition characterised by excessive daytime sleepiness, sleep paralysis, hypnagogic hallucinations, and cataplexy (sudden collapse triggered by emotion such as laughing or crying). There is no cure for narcolepsy. Treatment options include stimulants, such as methylphenidate (Ritalin) or modafinil (Provigil), antidepressants, such as fluoxetine (Prozac), citalopram (Celexa), paroxetine (Paxil), sertraline (Zoloft) and sodium oxybate (Xyrem). Modafinil has replaced methylphenidate and amphetamine as the first-line treatment of excessive daytime sleepiness (EDS).

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).

Based on the presented clinical scenario, the most probable diagnosis for the patient would be testicular torsion.Rationale:The gubernaculum is the structure responsible for aiding the descent of the testicles from the abdomen into the scrotum. The processus vaginalis precedes the descent of the testes and then undergoes closure. Abnormalities such as the persistence of a patent processus vaginalis, known as bell clapper deformity, predispose to testicular torsion.Other options:- Varicocele: Nutcracker syndrome occurs where the left renal vein becomes compressed in between the superior mesenteric artery and the aorta. Since the left gonadal vein drains into the left renal vein, this results in a varicocele. – Epididymitis and mumps orchitis are differentials for acute testicular pain but are not due to a defect in the processus vaginalis. – An incarcerated inguinal hernia presents mainly with signs of bowel obstruction which are not mentioned in the clinical scenario.The descent of testes:- Until the end of foetal life, the testicles are located within the abdominal cavity. – They are initially located on the posterior abdominal wall on a level with the upper lumbar vertebrae (L2). – Attached to the inferior aspect of the testis is the gubernaculum testis which extends caudally to the inguinal region, through the canal and down to the superficial skin. – It is interesting to note that both the testis and the gubernaculum are extra-peritoneal.- As the foetus grows, the gubernaculum becomes progressively shorter. It carries the peritoneum of the anterior abdominal wall (the processus vaginalis). As the processus vaginalis descends the testis is guided by the gubernaculum down the posterior abdominal wall and the back of the processus vaginalis into the scrotum.- By the third month of foetal life the testes are located in the iliac fossae, by the seventh they lie at the level of the deep inguinal ring.Usually, the processus vaginalis closes after birth but may persist predisposing to indirect hernias. On the other hand, a partial closure may result in the development of cysts on the cord.

There are 6 pharyngeal arches, the fifth does not contribute any useful structures and often fuses with the sixth arch. The structures arising from the aortic arches are as follows:First aortic arch: It regresses except for a very small part that gives rise to the maxillary artery.Second aortic arch: It regresses except for a very small part giving rise to the stapedial artery.Third aortic arch: This arch is the source of the common carotid artery and the proximal part of the internal carotid artery, and the external carotid which arises as a bud from this arch.Right Fourth aortic arch: Is the genesis of the proximal part of the right subclavian artery.Left Fourth aortic arch: Gives rise to the medial portion of the arch of the aorta.Fifth aortic arch: The fifth aortic arch regresses completely and very early in the development.Sixth aortic arch: Either of the sixth aortic arches divides into ventral and dorsal segments, and therefore, their derivatives also divide into these two segments.Right Sixth Arch:Ventral: Gives rise to the right pulmonary artery.Dorsal: It degenerates completely and loses its connection with the dorsal aorta.Left Sixth ArchVentral: It gives rise to the left pulmonary artery that goes to the left pulmonary bud.Dorsal: It forms a vital connection during intrauterine life between the left pulmonary artery and the arch of the aorta. This structure is called ductus arteriosus.

The presence of anti-endomysial antibodies confirms the diagnosis of Celiac disease, which is the primary cause of illness in this patient. The sweat chloride test is performed with cystic fibrosis.

A patient with Down’s syndrome is likely to be subfertile rather than infertile.Down’s syndrome:The clinical features of Down’s syndrome include:- Face: upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, protruding tongue, small ears, and round/flat face- Flat occiput- Single palmar crease, pronounced ‘sandal gap’ in the first interdigital space of the feet.- Hypotonia- Congenital heart defects (40-50%)- Duodenal atresia- Hirschsprung’s diseaseThe cardiac complications in these patients include:- Endocardial cushion defect (40%)- Ventricular septal defect (30%)- Secundum atrial septal defect (10%)- Tetralogy of Fallot (5%)- Isolated patent ductus arteriosus (5%)The complications that occur later in the life of the patient include:- Subfertility: Males are almost always infertile due to impaired spermatogenesis. Females, however, are usually subfertile and have an increased incidence of problems with pregnancy and labour.- Learning difficulties- Short stature- Repeated respiratory infections (+hearing impairment from glue ear)- Acute lymphoblastic leukaemia- Hypothyroidism- Alzheimer’s disease- Atlantoaxial instability

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

The differentials of the child’s condition are likely to include an Iron deficiency anaemia, or a hemoglobinopathy such as sickle cell disease or thalassemia based on the presentation of pallor, growth failure and easy fatiguability. While the full blood count and film present a hypochromic microcytic anaemia with reticulocytosis, the normal serum ferritin levels rule out iron deficiency anaemia. Thalassemia is to be suspected over sickle cell disease as the patient comes from the Mediterranean region known for a high incidence of thalassemia. Sickle cell anaemia also tends to present with normocytic normochromic red blood cells, with many sickled cells. Vitamin B12 deficiency and Aplastic anaemia are ruled out as they present with a macrocytic anaemia, and a decrease in white blood cells, platelets and red blood cells respectively.

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.

Most individuals with eating disorders do not receive treatment. The treatment gap may involve individuals’ attitudes about accessing various types of treatment, as well as perceived barriers to seeking treatment. Therapies to be considered for the psychological treatment of anorexia nervosa include cognitive analytic therapy (CAT), cognitive behaviour therapy (CBT), interpersonal psychotherapy (IPT), focal psychodynamic therapy and family interventions focused explicitly on eating disorders.The first step is an evidence-based self-help programme. Antidepressants may be helpful for patients with substantial concurrent symptoms of depression, anxiety, obsessions, or certain impulse disorder symptoms. They may be particularly good for patients who have not benefited from or had suboptimal response to suitable psychosocial therapy or who have a chronic, difficult course in combination with other treatments.Acute pharmacologic treatment of anorexia nervosa is rarely required. However, vitamin supplementation with calcium should be started in patients, and although oestrogen has no established effect on bone density in patients with anorexia nervosa, oestrogen replacement (i.e., oral contraceptives) has been recommended for the treatment of osteopenia. Note: Oestrogen should not be used in children (due to premature fusion of the bones).

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.

Celiac disease is classified as a Type IV hypersensitivity mediated by T-cell response. Negatively charged gliadin has been shown to induce interleukin 15 in the enteric epithelial cells, stimulating the proliferation of the natural killer cells and intraepithelial lymphocytes to express NK-G2D, a marker for natural killer T lymphocytes.

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.

A transverse lie is a common malpresentation. It occurs when the fetal longitudinal axis is perpendicular to the long axis of the uterus. The location of the spine determines if the foetus is back up (the curvature of the spine is in the upper part of the uterus) or back down (the curvature of the spine is in the lower part of the uterus).Good antenatal care, ECV, and elective caesarean section are the mainstay of the management.Spontaneous delivery of a term foetus is impossible with a persistent transverse lie and, in general, the onset of labour is an indication for the lower segment caesarean section (LSCS) in a case of a transverse lie.

HbA1c stands for glycated haemoglobin. In patients with haemolytic diseases associated with a shortened RBC survival, HbA1c levels can be unusually low despite controlled diabetes mellitus.These haemolytic diseases can include glucose-6-phosphate dehydrogenase deficiency and sickle cell anaemia.HbA1c:It is a measure of non-enzymatic glycation which occurs due to haemoglobin’s exposure to plasma glucose. As plasma glucose increases so does HbA1c.The level of HbA1c quantitively assesses the control of diabetes mellitus over the last 120 days (as this is the life span of a red blood cell).Haemoglobin type A is separated on cation exchange chromatographyOther subsections include HbA1O, HbA1a, HbA1b.According to the updated NICE recommendations (2015):The target level of HbA1c in children with T1DM is 48 mmol/mol (6.5%) or lower. It is monitored every three months. Better control is associated with fewer long term complications

Benign neonatal sleep myoclonus is a condition characterised by neonatal onset myoclonic jerks during NREM. Characteristic for this disorder is the absence of electroencephalographic findings.

Congenital cytomegalovirus infection causes: jaundice, hepatosplenomegaly, petechia, microcephaly, hearing loss and seizures.

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.

History of fever is suggestive of an infective focus. A straight nasal bones excludes a nasal bone fracture. A nasal septal abscess is defined as a collection of pus between the cartilage or bony septum and it is an uncommon disease which should be suspected in a patient with acute onset of nasal obstruction and recent history of nasal trauma.

There are four types of IVH. These are called grades and are based on the degree of bleeding.Grades 1 and 2 involve a smaller amount of bleeding. Most of the time, there are no long-term problems as a result of the bleeding. Grade 1 is also referred to as germinal matrix haemorrhage (GMH).Grades 3 and 4 involve more severe bleeding. The blood presses on (grade 3) or directly involves (grade 4) brain tissue. Grade 4 is also called an intraparenchymal haemorrhage. Blood clots can form and block the flow of cerebrospinal fluid. This can lead to increased fluid in the brain (hydrocephalus).

The IM dose of adrenaline for anaphylaxis in:< 6 months: 150 micrograms (0.15ml 1 in 1,000)6 months - 6 years: 150 micrograms (0.15ml 1 in 1,000)6 - 12 years: 300 micrograms (0.3ml 1 in 1,000)Adult and child > 12 years: 500 micrograms (0.5ml 1 in 1,000)Anaphylaxis:Anaphylaxis is an acute, rapidly progressing, potentially life-threatening IgE mediated Type I hypersensitivity reaction.It involves the release of mediators from mast cells, basophils and inflammatory cells. It is characterised by oedematous swelling of the airway mucosa giving rise to dyspnoea and respiratory distress. The most common cause of anaphylaxis in children is a food allergy.Risk factors for death in patients with anaphylaxis include asthma, age 11+, peanut allergy, and delay in adrenaline administration.Management of anaphylaxis includes:- ABCD- Remove the allergen- IM adrenaline or Nebulised adrenaline- IV Hydrocortisone – pro re nata IV fluid support. – Followed by observation.

DiGeorge syndrome is one of the most common microdeletion syndromes, resulting from 22q11 deletion. 10% of the cases can be inherited in an autosomal dominant fashion, while 90% are sporadic. The syndrome is characterized by a deficiency of both T and B-cell lines along with hearing loss, 20-fold increased lifetime chances of developing schizophrenia, renal abnormalities, congenital heart defects, and a borderline or low IQ. Distinctive facial features include micrognathia, long face, short philtrum, cleft palate, and small teeth.