Liddle’s syndrome,  is an autosomal dominant disorder, that is characterized by early, and frequently severe, high blood pressure associated with low plasma renin activity, metabolic alkalosis, low blood potassium, and normal to low levels of aldosterone. Liddle syndrome involves abnormal kidney function, with excess reabsorption of sodium and loss of potassium from the renal tubule. Bartter Syndrome also presents with hypokalaemia, however blood pressure of these patients is usually low or normal.

Developmental dysplasia of the hip (DDH) is a spectrum of anatomical abnormalities of the hip joint in which the femoral head has an abnormal relationship with the acetabulum.Plain radiographs are of limited value for diagnosis in the new-born child because the femoral head and acetabulum are largely cartilaginous. Ultrasound scanning is the investigation of choice to evaluate DDH in infants younger than six months of age and is useful to diagnose more subtle forms of the disorder when a clinical exam is equivocal. It is also the only imaging modality that enables a three-dimensional real-time image of a neonate’s hip.

Correlation is a bivariate analysis that measures the strength of association between two variables and the direction of the relationship.Pearson r correlation: Pearson r correlation is the most widely used correlation statistic to measure the degree of the relationship between linearly related variables. Pearson’s correlation coefficient is the test that measures the statistical relationship, or association, between two continuous variables. It is known as the best method of measuring the association between variables of interest because it is based on the method of covariance. It gives information about the magnitude of the association, or correlation, as well as the direction of the relationship.The non-parametric Spearman or Kendall rank correlation coefficient is used if neither variable has a normal distribution or the sample size is small (i.e. <20).

According to NICE guidelines:Do not offer lithium to women who are planning a pregnancy or pregnant, unless antipsychotic medication has not been effective.If antipsychotic medication has not been effective and lithium is offered to a woman who is planning a pregnancy or pregnant, ensure:the woman knows that there is a risk of fetal heart malformations when lithium is taken in the first trimester, but the size of the risk is uncertain. Lithium levels may be high in breast milk with a risk of toxicity for the baby.If a woman taking lithium becomes pregnant, consider stopping the drug gradually over 4 weeks if she is well. Explain to her that:stopping the medication may not remove the risk of fetal heart malformations and there is a risk of relapse, particularly in the postnatal period, if she has bipolar disorder.If a woman taking lithium becomes pregnant and is not well or is at high risk of relapse, consider:switching gradually to an antipsychotic or stopping lithium and restarting it in the second trimester (if the woman is not planning to breastfeed and her symptoms have responded better to lithium than to other drugs in the past) or continuing with lithium if she is at high risk of relapse and an antipsychotic is unlikely to be effective. If a woman continues taking lithium during pregnancy:- check plasma lithium levels every 4 weeks, then weekly from the 36th week. Adjust the dose to keep plasma lithium levels in the woman’s therapeutic range- ensure the woman maintains an adequate fluid balance- ensure the woman gives birth in the hospital- ensure monitoring by the obstetric team when labour starts, including checking plasma lithium levels and fluid balance because of the risk of dehydration and lithium toxicity- stop lithium during labour and check plasma lithium levels 12 hours after her last dose.

Neurogenic shock is a devastating consequence of spinal cord injury (SCI), also known as vasogenic shock. Injury to the spinal cord results in sudden loss of sympathetic tone, which leads to the autonomic instability that is manifested in hypotension, bradyarrhythmia, and temperature dysregulation. Spinal cord injury is not to be confused with spinal shock, which is a reversible reduction in sensory and motor function following spinal cord injury. Neurogenic shock is associated with cervical and high thoracic spine injury. Early identification and aggressive management are vital in neurogenic shock to prevent secondary spinal injury.

Hormones can be secreted in a number of different ways, thus plasma levels of each may vary throughout the day. Many of these exhibit intermittent secretion related to sleep (growth hormone, and prolactin), while others are released based on circadian rhythms (cortisol). Some are released in a pulsatile fashion throughout the day such as FSH, LH, Thyroxine, while others are stress related like cortisol.

“Tinea incognito” is a term used to describe a tinea infection modified by topical steroids. It is caused by prolonged use of topical steroids, sometimes prescribed as a result of incorrect diagnosis. Topical steroids suppress the local immune response and allow the fungus to grow easily. As a result, the fungal infection may take on the bizarre appearance seen in this patient.The diagnosis of tinea incognito is simple to confirm by microscopic visualization of branching hyphae and spores typical of dermatophytes in a potassium hydroxide preparation.Treatment of tinea incognito requires cessation of all topical steroid use and implementation of specific antifungal treatment. A low-potency corticosteroid may be used briefly to avoid the flare often associated with abrupt cessation of a potent steroid. Patients should be warned of this possibility so they do not reinstitute use of topical steroids on their own.

Fertilization occurs when the sperm reaches an egg released during ovulation. At the time of fertilization, the interaction of sperm with the zona pellucida stimulates the release of calcium. This process initiates a corona reaction that prevents polyspermy.

Hydrops fetalis is a serious condition characterized by excessive fluid accumulation resulting in oedema in one or more of the fetal compartments. The most likely cause is fetal anaemia, and the condition may lead to ascites and pleural effusion. The anaemia that results in hydrops may be caused by Rh incompatibility, Parvovirus B19 infection, toxoplasmosis, hepatitis B, maternal syphilis (strong association), Cytomegalovirus, Turner syndrome, and Noonan syndrome.

Based on the given scenario, the most probable diagnosis for this patient is acquired immune deficiency syndrome (AIDS) caused by human immunodeficiency virus (HIV). Thus, the most appropriate investigation to confirm the underlying pathology in this patient would be viral serology. Rationale:The presence of oesophageal candidiasis is highly suggestive of severe immunosuppression. The causes of immunosuppression can be chemotherapy, with haematological malignancy, HIV or inhaled steroids. In patients with HIV, oesophageal candidiasis is part of the spectrum of AIDS-defining illnesses and usually occurs when the CD4 count is < 200 cells/microL. Other AIDS-defining illnesses include PCP pneumonia and CMV infections.Oesophageal Candidiasis:It is characterised by white spots in the oropharynx with extension into the oesophagus. It seldom occurs without an associated underlying risk factor like broad-spectrum antibiotic usage, immunosuppression and immunological disorders.Patients may present with oropharyngeal symptoms, odynophagia and dysphagia.Treatment is directed both at the underlying cause (which should be investigated for) and with oral antifungal agents.

Answer: Oculogyric crisisOculogyric crisis is an acute dystonic reaction of the ocular muscles characterized by bilateral dystonic elevation of visual gaze lasting from seconds to hours. This reaction is most commonly explained as an adverse reaction to drugs such as antiemetics, antipsychotics, antidepressants, antiepileptics, and antimalarials. Metoclopramide is a benzamide selective dopamine D2 receptor antagonist that is used as an antiemetic, with side effects that are seen frequently in children.1 The most common and most important side effects of metoclopramide are acute extrapyramidal symptoms, which require immediate treatment. Acute dystonic reactions occur as contractions of the muscles, opisthotonos, torticollis, dysarthria, trismus, and oculogyric crisis.

The autosomal dominant pattern of inheritance involves the presence of at least one of the defected copies of the gene in an individual to develop a specific diseased condition. Examples of this mode of inheritance include myotonic dystrophy, neurofibromatosis, achondroplasia, etc. Still’s disease, also called juvenile idiopathic arthritis, is not a heritable disease. Tay-Sachs disease is an autosomal recessive disease., while spinocerebellar ataxia and Friedreich’s ataxia are caused by trinucleotide repeat expansion.

Infants exposed to maternal HIV and with positive results require immediate management with co-trimoxazole prophylaxis, regardless of their CD4 levels. Antiretroviral treatment is necessary as well but it could wait until further work-up is complete.

Carbon monoxide is a colourless gas, which is toxic to animals. It has a high affinity for haemoglobin (around 250 times greater than oxygen). It combines with haemoglobin forming carboxyhaemoglobin, which decreases the oxygen-carrying capacity of the blood, leading to a left-shift in the oxygen-dissociation curve. CO is produced endogenously in limited amounts (0.4ml per hour), but the toxic levels are higher.

Graves disease is an autoimmune disorder in which patients present with thyrotoxicosis and related ophthalmopathy, and dermopathy. Many affected patients experience hyperthyroidism. Peak incidence of graves disease is after the 3rd decade of life and is more common in women than in men. Graves susceptibility is association with HLA-DR3. Clinical features of Graves disease include an increased metabolic rate, heat intolerance, irritability, weight loss despite increasing appetite, diarrhoea palpitations, chemosis, acropachy and onycholysis.

Coarctation of the aorta may be defined as a constricted aortic segment that comprises localized medial thickening, with some infolding of the medial and superimposed neointimal tissue.The presence of associated defects and aortic arch anomalies, the extent of patency of the ductus arteriosus, the rapidity of the process of closure of the ductus arteriosus, and the level of pulmonary vascular resistance determine the timing of clinical presentation and the severity of symptoms. Young patients may present in the first few weeks of life with poor feeding, tachypnoea, and lethargy and progress to overt CHF and shock. These patients may have appeared well before hospital discharge, and deterioration coincides with closure of the patent ductus arteriosus. Presentation may be abrupt and acute with ductal closure.Neonates may be found to have tachypnoea, tachycardia, and increased work of breathing and may even be moribund with shock. Keys to the diagnosis include blood pressure (BP) discrepancies between the upper and lower extremities and reduced or absent lower extremity pulses to palpation. However, when the infant is in severe heart failure, all pulses are diminished.The murmur associated with coarctation of the aorta may be nonspecific yet is usually a systolic murmur in the left infraclavicular area and under the left scapula.

HELLP syndrome is a complication of pregnancy characterized by haemolysis, elevated liver enzymes, and a low platelet count. It usually begins during the last three months of pregnancy or shortly after childbirth. HELLP syndrome is a life-threatening condition that can potentially complicate pregnancy. It is named for 3 features of the condition: Haemolysis, Elevated Liver enzyme levels, and Low Platelet levels. It typically occurs in the last 3 months of pregnancy (the third trimester) but can also start soon after delivery. A wide range of non-specific symptoms may be present in women with HELLP syndrome. Symptoms may include fatigue| malaise| fluid retention and excess weight gain| headache| nausea and vomiting| pain in the upper right or middle of the abdomen| blurry vision| and rarely, nosebleed or seizures. The cause of HELLP syndrome is not known, but certain risk factors have been associated with the condition. It is most common in women with preeclampsia or eclampsia. If not diagnosed and treated quickly, HELLP syndrome can lead to serious complications for the mother and baby. The main treatment is to deliver the baby as soon as possible, even if premature, if there is distress of the mother or the baby. Treatment may also include medications needed for the mother or baby, and blood transfusion for severe bleeding problems.

Protein energy malnutrition often presents in two common forms, Kwashiorkor and Marasmus. Kwashiorkor is characterised by a protein deficiency with an additional inadequate calorie intake. As a result, affected children present with oedema, muscular atrophy, and their weight for age is 60-80% of the expected weight. Their cutaneous tissue is however preserved. Marasmus on the other hand is characterised by a severe calorie deficiency leading to atrophy of the muscles and adipose tissue, with weight loss being less than 60% of the normal. In both cases, if the child is not promptly rehabilitated, the malnutrition could cause irreversible damage, such as hepatic, cardiac and renal impairments.

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

Chickenpox is a highly communicable viral disease caused by human (alpha) herpesvirus 3 (varicella-zoster virus, VZV). It is transmitted from person to person by direct contact (touching the rash), droplet or air born spread (coughing and sneezing).

Based on the clinical scenario provided, the most probable diagnosis is Peutz-Jeghers syndrome.Peutz-Jeghers syndrome is an autosomal dominant condition characterised by numerous hamartomatous polyps in the gastrointestinal tract. It is also associated with pigmented freckles on the lips, face, palms and soles.Genetic basis: It follows an autosomal dominant inheritance, and the gene responsible encodes serine-threonine kinase LKB1 or STK11.Classical features of PJS include:- Hamartomatous polyps in the GI tract (mainly small bowel)- Pigmented lesions on lips, oral mucosa, face, palms and soles- Intestinal obstruction, e.g. intussusception- Gastrointestinal bleedingThe treatment is mainly conservative unless complications develop.Note:Hereditary haemorrhagic telangiectasia can also be associated with mucocutaneous lesions and iron-deficiency anaemia, but intestinal polyps are not a feature.

The umbilical cord that connects the fetus to the placenta is about 50cm long. This tissue consists of the body stalk and vitelline duct. The former containing the allantoic diverticulum and the umbilical vessels. The latter contains the connection linking the digestive tube and the yolk sac. This cord is wrapped by stratum of ectoderm and gelatinous tissue or jelly of Wharton. The right umbilical vein plus the vitelline vessels and ducts disappear and this at birth the cord has three vessels which are the umbilical vein and two umbilical arteries.

Cluster headaches present with unilateral severe headache that may be associated with ipsilateral cranial autonomic symptoms including| lacrimation, rhinorrhoea, ophthalmic injection, and occasionally, Horner syndrome (ipsilateral miosis, ptosis, and facial anhidrosis).

The peroneus brevis muscle originates from the lower two-thirds of the lateral body of the fibula and has inserts at the base of the fifth metatarsal. Fractures to this bone are common and can be due to infection, trauma, overuse and repetitive use.

Klinefelter’s syndrome: The low follicle-stimulating hormone (FSH) and luteinising hormone (LH), together with the low testosterone, suggests a hypogonadotropic hypogonadism. We know that there is no mental retardation, and we are told that physical examination is normal and sense of smell would usually not be tested. Consequently a diagnosis of Kallman’s is suggested. We are not told of a family history of growth delay, thus this is unlikely to be constitutional delay. The thyroid-stimulating hormone (TSH) is normal, making hypothyroidism unlikely and this together with the normal prolactin make hypopituitarism most unlikely.

Pulmonary surfactant is a lipoprotein complex that is responsible for preventing the collapse of alveoli and increasing lung compliance.It is produced in the endoplasmic reticulum and secreted from the lamellar bodies of type 2 pneumocytes.Surfactant is essential for reducing surface tension at the air-water interface in the alveoli, thus preventing the collapse of alveoli during expiration. It is composed of dipalmitoyl phosphatidylcholine (DPPC), which is a phospholipid.In fetal development, production of surfactant begins around 26 weeks of gestation and reaches mature levels by 35 weeks.The deficiency of surfactant can result in neonatal respiratory distress syndrome or hyaline membrane disease, particularly in premature new-born babies.

Fetal alcohol syndrome (FAS) is a common yet under-recognized condition resulting from maternal consumption of alcohol during pregnancy. The diagnosis of fetal alcohol syndrome (FAS) is based on findings in the following 3 areas: (1) characteristic facial anomalies (see image below), (2) growth retardation (intrauterine growth restriction and failure to have catch-up growth), and (3) CNS involvement (cognitive impairment, learning disabilities, or behavioural abnormalities).Key characteristic craniofacial abnormalities include the following:- Smooth philtrum- Thin, smooth vermilion border of the upper lipShort palpebral fissures (< 10th percentile for age)Other craniofacial abnormalities are as follows:- Midface hypoplasia- Microphthalmia- Strabismus- PtosisCNS and neurobehavioral abnormalities include the following:- Microcephaly- Intellectual impairment (mild-to-moderate mental retardation)- Cognitive impairment- Developmental delay- Irritability in infancy- Hyperactivity in childhood or attention deficit hyperactivity disorder (ADHD)- Seizures- Delayed or deficient myelination- Agenesis or hypoplasia of the corpus callosumSkeletal abnormalities include the following:- Radioulnar synostosis- Flexion contractures- Camptodactyly- Aberrant palmar creases, especially hockey-stick palmar crease- Clinodactyly- Klippel-Feil anomaly- Hemivertebrae- Scoliosis- Dislocated jointsOther major congenital anomalies include the following:- Cleft palate- Heart defects- Renal anomalies- DiGeorge sequenceFunctional problems include the following:- Refractive problems (e.g., myopia, astigmatism)- Hearing lossGrowth deficiency includes the following:- Infant small for gestational age (< 10th percentile for weight or length)- Postnatal growth deficiency

Based on the clinical presentation, the child probably has orthostatic proteinuria.Orthostatic proteinuria occurs when the kidneys can conserve urine when the patient is recumbent, such as sleeping at night, but leak protein with standing or in exercise. This results in early morning urine being negative for protein but late in the day urine being positive. It is mostly seen in tall thin adolescents and is benign. Other options:- Alport’s syndrome is a hereditary condition associated with haematuria and deafness. – Urinary tract infections can cause proteinuria, but leucocyte esterase and nitrites would also be expected in a child of this age. – Nephritic syndrome can be associated with proteinuria, but haematuria would also be present. – In nephrotic syndrome, proteinuria would be present on all occasions and associated with oedema.

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.

The boy is most probably a type 1 diabetic patient. Such a condition can affect the behaviour and psychological state of a young child reflected in their behaviour. The parents should seek the help of a clinical psychologist.