The most common cause of acute urticaria is a viral infection. Individual lesions typically are short-lived and last less than 24 hours. Urticaria can be due to or can be made worse by cold temperatures. One of the other causes of urticaria is salicylic acid.

Jaundice in a new-born on the day of delivery is most likely due to Rh incompatibility. This occurs when the mother is Rh-negative and the baby is Rh-positive. Antibodies in the mother against the Rh factor in the baby will destroy the red blood cells in the baby, increasing the bilirubin in the blood. Breast milk jaundice and Galactosemia do not occur immediately after birth, and congenital rubella syndrome and formula feeding does not cause jaundice in babies.

Among the options provided, an 8-week-old full-term infant with normal developmental milestones will smile in response to appropriate stimuli.Rationale:Smiles in response to appropriate stimuli are seen from around 6 weeks of age. A social smile, where the infant has an awareness that a smile attracts attention, is not observed until around 3 months of age.Other options:- At 6 weeks an infant is able to follow objects in the horizontal plane through 90 deg; fixing and following an object through 180 deg in the horizontal plane is a milestone achieved at 3 months, as is pushing up onto forearms. – Pushing up onto hands occurs by around 5 months.- Infants of 3 months should startle to a 60 dB sound.

Bilious (green) gastric aspirate or emesis indicates that the intestines are obstructed below the ampulla of Vater.Gastrointestinal (GI) endoscopy is actually considered an essential diagnostic and therapeutic technique. Upper GI endoscopy in neonatal age allows for exploration of the oesophagus, stomach and duodenum; instead lower GI endoscopy easily reaches the sigmoid-colon junction.

Intussusception is a condition in which one segment of intestine telescopes inside of another, causing an intestinal obstruction. Although intussusception can occur anywhere in the gastrointestinal tract, it usually occurs at the junction of the small and large intestines. Most describe the symptoms of intussusception as a triad of colicky abdominal pain, bilious vomiting, and currant jelly stool. The primary symptom of intussusception is described as intermittent crampy abdominal pain.

Puberty is the general term for the transition from sexual immaturity to sexual maturity. There are two main physiological events in puberty:- Gonadarche is the activation of the gonads by the pituitary hormones follicle-stimulating hormone (FSH) and luteinizing hormone (LH).- Adrenarche is the increase in production of androgens by the adrenal cortex. It is the term for the maturational increase in adrenal androgen production that normally becomes biochemically apparent at approximately six years of age in both girls and boysA number of other terms describe specific components of puberty:- Thelarche is the appearance of breast tissue, which is primarily due to the action of oestradiol from the ovaries. – Menarche is the time of first menstrual bleed. – Pubarche is the appearance of pubic hair, which is primarily due to the effects of androgens from the adrenal gland. The term is also applied to first appearance of axillary hair, apocrine body odour, and acne.The earliest detectable secondary sexual characteristic on physical examination in most girls is breast/areolar development (thelarche). Ovarian enlargement and growth acceleration typically precede breast development but are not apparent on a single physical examination. Oestrogen stimulation of the vaginal mucosa causes a physiologic leukorrhea, which is a thin, white, non-foul-smelling vaginal discharge that typically begins 6 to 12 months before menarche. Menarche occurs, on average, 2 to 2.5 years after the onset of puberty

The clinical features and the presentation of this child and the MRI findings are highly suggestive of acute lymphoblastic leukaemia.Anaemia and neutropenia, with a borderline platelet count as well as the tumour infiltration on both femurs on the MRI scan, are suggestive of a widespread Marrow disorder. Based on the age of the patient, acute lymphoblastic leukaemia is more appropriate as it is more common than acute myeloid leukaemia in children and can present with bony pain in this age group.Other options:- Acute myeloid leukaemia: Although this is the most common leukaemia that is seen in adults, it rarely presents in children. – Ewing’s sarcoma: This would usually present in a more unilateral manner, and would only be associated with cytopenia if there was direct bone marrow involvement.- HIV infection: It would be very rare in this group. HIV infection can cause a wide array of signs and symptoms, but we are told that the MRI scan is highly suggestive of tumour infiltration, which would be uncommon in this condition. – Juvenile arthritis: It is much less common. There is also nothing to find on examination, such as swollen or painful joints, which would usually be seen in this condition.

The swelling and bruising on the mandible needs to be checked for fractures. A facial X-ray can adequately visualize this.

The symptoms and signs described are typical for epiglottitis which represents a paediatric emergency and the child should be put immediately on corticosteroids.

Hyperkalaemia presents with high voltage (peaked) T waves on ECG. Other features on ECG include smaller p-waves and wider QRS complexes.

47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of a male’s cells. Although many males with this condition are taller than average, the chromosomal change sometimes causes no unusual physical features. Most males with 47,XYY syndrome have normal production of the male sex hormone testosterone and normal sexual development, and they are usually able to father children.47,XYY syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills. Affected boys can have delayed development of motor skills or hypotonia.Other signs and symptoms of this condition include hand tremors or other involuntary movements (motor tics), seizures, and asthma. Males with 47,XYY syndrome have an increased risk of behavioural, social, and emotional difficulties compared with their unaffected peers. These problems include attention-deficit/hyperactivity disorder (ADHD); depression; anxiety; and autism spectrum disorder.Physical features related to 47,XYY syndrome can include increased belly fat, macrocephaly, macrodontia, flat feet (pes planus), fifth fingers that curve inward (clinodactyly), widely spaced eyes (ocular hypertelorism), and scoliosis. These characteristics vary widely among affected boys and men.

In the pattern of mendelian inheritance, X- linked dominant inheritance means that all who inherit the X chromosome will present with the condition. In the case of maternal x-linked inheritance sons and daughters have an equal chance of inheriting the condition as there is a 50% chance of inheriting the defective X chromosome from their mother as opposed to a non affected X chromosome from their father. However in paternal X-linked dominant inheritance, sons will be unaffected as they inherit a Y chromosome from their father while daughters are sure to inherit the defective X-chromosome.

The red reflex examination is an important part of the paediatric ocular assessment. The red reflex is abnormal in conditions like retinoblastoma, retinopathy of prematurity, cataract, and retinal detachment. Amblyopia is a cortical developmental disorder that results in defective visual inputs to both the eyes. The disorder occurs during the cortical plasticity stage of embryonic development. The red reflex is normal in this case since there is no hindrance to the reflection of light from the ocular media and fundus.

Eczema herpeticum (also called Kaposi varicelliform eruption) is a disseminated viral illness usually associated with lymphadenopathy.It is most often caused by Herpes Simplex type 1 or type 2. Occasionally, other viruses such as coxsackievirus A16 may cause eczema herpeticum. Affected children usually develop itchy blisters and fever after coming in contact with an affected individual who may or may not display cold sores.It is characterised by an itchy and sometimes painful cluster of blisters most commonly on the face initially. This spreads over one to several weeks resulting in further crops of blisters which can become confluent. Lymphadenopathy and fever are common in these patients.The severity varies from mild illness to life-threatening, especially in immunocompromised children or young infants. It is markedly more common in children with atopic dermatitis. It is one of the few dermatological emergencies, and oral antivirals are often indicated. Referral to an ophthalmologist may be needed if there is eyelid or eye involvement. Occasionally, superadded skin infections caused by staphylococci and streptococci can occur.

Synchronized IMV (SIMV) with pressure support, used in the alert infant. SIMV guarantees a minimum minute volume while allowing the patient to trigger spontaneousbreaths at a rate and volume determined by the patient. Extra breaths are boosted with pressure support. Tidal Volume (Vt) is normally approximately 6-10 mL/kg and 4-6 ml/kg in the preterm.Respiratory rate (RR) is usually 30-60 BPM. Tidal volume and respiratory rate are relatedto respiratory minute volume as follows: Vm(mL/min) = Vt x RR .This baby is overventilated with a low CO2. Tidal volumes should generally be targeted at 4-6 ml/kg and this baby is being targeted at 9 ml/kg which exposes the baby to damage to the distal airways from this ventilation which can lead to bronchopulmonary dysplasia.

Fanconi anaemia, a rare autosomal recessive condition, presents with congenital abnormalities and defective hemopoiesis. Clinical signs include pallor and bruising. Hypoplasia of the thumbs and radial hypoplasia are two of the most common congenital abnormalities. Conductive deafness is also common. Those with Fanconi anaemia have a higher risk for developing acute myeloid leukaemia.

Most infants have a good heart rate after birth and establish breathing by about 90 s. If the infant is not breathing adequately aerate the lungs by giving 5 inflation breaths, preferably using air. Until now the infant’s lungs will have been filled with fluid.

The heart is the first organ to form and become functional, emphasizing the importance of transport of material to and from the developing infant. It originates about day 18 or 19 from the mesoderm and begins beating and pumping blood about day 21 or 22. It forms from the cardiogenic region near the head and is visible as a prominent heart bulge on the surface of the embryo. Originally, it consists of a pair of strands called cardiogenic cords that quickly form a hollow lumen and are referred to as endocardial tubes. These then fuse into a single heart tube and differentiate into the truncus arteriosus, bulbus cordis, primitive ventricle, primitive atrium, and sinus venosus, starting about day 22. The primitive heart begins to form an S shape within the pericardium between days 23 and 28. The internal septa begin to form about day 28, separating the heart into the atria and ventricles, although the foramen ovale persists until shortly after birth. Between weeks five and eight, the atrioventricular valves form. The semilunar valves form between weeks five and nine.

There are two lateral rotators of the arm, the infraspinatus and the teres minor muscles. The infraspinatus muscle receives nerve supply from C5 and C6 via the suprascapular nerve, whilst the teres minor is supplied by C5 via the axillary nerve.

A vasovagal episode or vasovagal syncope is the most common form of reflex syncope. Reflex syncope is a general term used to describe types of syncope resulting from a failure in autoregulation of blood pressure, and ultimately, in cerebral perfusion pressure resulting in transient loss of consciousness. The mechanisms responsible for this are complex and involve both depression of cardiac output as well as a decrease in vascular tone. Other types of reflex syncope include carotid sinus syncope and situational syncope, for instance, cough or micturition syncope. Vasovagal syncope may be triggered by pain or emotional upset, although frequently a specific trigger cannot be identified.

Von Hippel-Lindau syndrome is a genetic disorder inherited in autosomal dominant fashion. It is caused by the mutations of the VHL gene located on chromosome 3. The syndrome is characterized by the creation of multiple benign and malignant tumours involving various bodily systems along with the formation of numerous visceral cysts, including the renal and epididymal cysts. Down’s syndrome is associated with renal cysts, but it does not follow the autosomal dominant mode of inheritance, rather it is caused by non-disjunction of chromosome 21 during meiosis. Exomphalos is a defect of the medial abdominal wall leading to abnormal protrusion of abdominal viscera through it. It is not associated with renal cysts. Turner’s syndrome may be associated with renal cysts formation, but it is not transmitted in an autosomal dominant fashion. Polycystic kidney disease of childhood follows an autosomal recessive pattern of transmission.

Minimal change disease is a type of glomerulonephritis that mostly affects younger children. Proteinuria is present which leads to body oedema. But in these patients blood pressure is normal.

Based on the clinical scenario, the most likely underlying pathogen is the Epstein Barr virus (EBV).An Epstein Barr virus (EBV) infection most commonly results in upper respiratory tract symptoms with fever and sore throat. Lymphadenopathy is frequently palpable on examination. Splenomegaly may also occur, and for this reason, patients diagnosed with glandular fever should be advised to avoid contact sports for one month following diagnosis. The presence of petechiae on the soft palate is also associated with EBV infection. The vast majority of patients with active EBV infection will develop a widespread rash if given amoxicillin, therefore, phenoxymethylpenicillin (Penicillin V) is recommended for the treatment of a suspected bacterial throat infection to prevent this complication occurring for individuals who have EBV infection.Other options:- Coronavirus: This is one of the causes of the common cold and is frequently responsible for sore throats; however, in this case, the presenting features are more suggestive of an EBV infection.- Group A Streptococcus: Streptococci are classified into two main groups; alpha-haemolytic and beta-haemolytic. Group A Streptococcus belongs to the beta-haemolytic group. Group A streptococcal infection is a common cause of bacterial tonsillitis. It is possible that the child, in this case, had streptococcal tonsillitis and has had a drug reaction to the amoxicillin. However her age, flu-like symptoms and petechiae on her palate all point to an EBV infection and amoxicillin resulting in a rash.- Parainfluenza: Parainfluenza viruses are one of many causes of the common cold and can cause pharyngitis. They are the leading cause of viral croup.- Rhinovirus: Rhinoviruses are one of many causes of the common cold and are frequently responsible for sore throats; however, in this case, are other factors suggesting EBV infection.

According to the NICE guidelines, the frequency of stool passage is considered constipation when two or more of the following findings are present: Fewer than 3 stools a week, large hard stools, stools that resemble rabbit droppings; symptoms associated with defecation including distress, bleeding or straining; a history of previous episodes of a precious/current anal fissure. The child in the scenario fails to meet the criteria, and has no evidence of impacted faeces on examination. The best course of action is to encourage the parents to give the child more water to prevent dehydration, and feed the child a fibre rich diet including fruits, vegetables and high fibre bread.

Tricuspid atresia is the third most common form of cyanotic congenital heart disease, with a prevalence of 0.3-3.7% in patients with congenital heart disease. The deformity consists of a complete lack of formation of the tricuspid valve with the absence of a direct connection between the right atrium and right ventricle.The following 3 considerations guide the treatment of infants with tricuspid atresia:- The amount of pulmonary blood flow must be regulated to decrease hypoxemia or symptoms of congestive heart failure.- Myocardial function, the integrity of the pulmonary vascular bed, and pulmonary vascular integrity must be preserved to optimize conditions for a later Fontan operation.- The risk of bacterial endocarditis and thromboembolism must be minimized.Infants with decreased pulmonary blood flow: encompasses most of the infants with tricuspid atresia.Marked cyanosis and hypoxemia characterize the clinical course. Acidaemia may occur if the hypoxemia is profound, and death can ensue.Promptly treat infants with severe hypoxemia with prostaglandin E infusions to maintain patency of the ductus arteriosus and improve pulmonary blood flow.Infants with increased pulmonary blood flow: These infants have an associated unrestrictive ventricular septal defect and transposed great vessels.They present with severe congestive heart failure and benefit from digitalis and diuretic therapy until an operative intervention can be undertaken to restrict the pulmonary blood flow.

The most appropriate management would be to reassure the parents, as nasolacrimal duct dysfunction in most infants tends to resolve spontaneously.Note:Nasolacrimal duct blockage occurs in up to 5% of new-borns. 90% of these babies spontaneously resolve in the first year of life. They do not require urgent ophthalmological review, as often advice and reassurance for parents suffice for up to the age of 18 months old or so. A lump can often be seen in the nasolacrimal region following the accumulation of mucous. This does not need to be treated with antibiotics unless there are signs of acute infection.Other options:- The child does not require urgent ophthalmology review as there are no signs of severe infection. Watery eyes often lead to mucous production, which is a common non-worrying sign.- A course of topical antibiotics: Watery eyes often lead to mucous production, which is distinct from pus discharge. Unnecessary topical antibiotics can cause secondary red eyes as well as give parents false expectations for the resolution of the symptoms and signs.- A course of topical and oral antibiotics: Watery eyes often lead to mucous production, which is distinct from pus discharge. Unnecessary topical and oral antibiotics can cause secondary red eyes as well as give parents false expectations for the resolution of the symptoms and signs.- Reassurance is necessary. However, the advice that the child most likely will need a surgical procedure to resolve this is incorrect. Reassurance, but include advice that the child most likely will need a surgical procedure to resolve this is incorrect as 90% of infants that have these symptoms and signs resolve within the first year of life.

Scarlet fever is a childhood infectious disease caused by group A Streptococcus. It produces a papular rash, which is classically described as a sand-paper rash. The rash initially appears on the trunk, groin, and underarms and then spreads to extremities, usually sparing the palms and soles. Circumoral area is also spared, giving it pallor-like appearance. Diseases like erythema multiforme, contact dermatitis, staphylococcal scalded skin syndrome, and rubella produce a rash that classically affects the palms and soles.

Dandy-Walker syndrome is characterised by symptoms of brain maldevelopment that are seen in this patient. A large cranium indicates hydrocephalus, and the hypotonia indicates poor limb development.

Miliaria is a common skin disease caused by blockage and/or inflammation of eccrine sweat ducts. Miliaria is frequently seen in hot, humid or tropical climates, in patients in the hospital, and in the neonatal period. Miliaria is also known as sweat rash.Based on the level of the sweat duct obstruction, miliaria is divided into three subtypes:- Miliaria crystallina (sudamina), caused by obstruction of the sweat ducts close to the surface of the skin (epidermis);- Miliaria rubra, caused by obstruction of the sweat ducts deeper in the epidermis;- Miliaria profunda (tropical anhidrosis), the result of sweat leaking into the middle layer of skin (dermis).Miliaria crystallina appears as 1-2 mm superficial clear blisters that easily break. The blisters can look like beads of sweat. There is no inflammation. The blisters are usually seen widely spread on the head, neck, and upper trunk.Miliaria rubra is the most common type of miliaria results in red, 2-4 mm, non-follicular papules and papulovesicles. They are very itchy. Background erythema is often present. In children, miliaria affects the skin folds of the neck, axilla or groin. In adults, miliaria often affects the upper trunk, scalp, neck and flexures, particularly areas of friction with clothing. Miliaria pustulosa is a variant of milia rubra in which there are pustules.Miliaria profunda describes asymptomatic deep papules. The flesh-coloured, 1-3 mm diameter papules usually arise on the trunk and extremities.Mild Topical steroids can be used as a treatment

The sign being elicited in this patient is Nikolsky’s sign. Based on the findings, the patient is suffering from toxic epidermal necrolysis.Nikolskys sign: Rubbing the skin causes exfoliation of the outer layer and usually blistering within a few minutes. Other options:- Cullen’s sign: Periumbilical bruising due to intra-abdominal haemorrhage. If the discolouration is seen in the flanks, it is called Cullen’s sign. Underlying pathology includes ruptured ectopic pregnancy and haemorrhagic pancreatitis. – Forscheimer’s sign: It is a fleeting exanthem that is seen as small, red spots (petechiae) on the soft palate. Associated with rubella and glandular fever. Gorlin’s sign: It is the ability to touch the tip of the nose with the tongue. Increased incidence in children with connective tissue disorders, e.g. Ehler Danlos syndrome. – Auspitzs sign: These are small bleeding points left behind when psoriatic scales are lifted off. It is not a very sensitive or specific sign. Other cutaneous signs include:- Hair collar sign: It is a collar of hypertrichosis around an area of cranial dysraphism.- Hertoghe’s sign (Queen Anne’s sign): It is the loss of lateral one-third of eye-brows. It is associated with numerous conditions, including lupus, HIV, and hypothyroidism. – Dariers sign: It is the swelling, itching and erythema that occurs after stroking skin lesions of a patient with systemic mastocytosis or urticarial pigmentosa. – Dermatographism: Rubbing the skin causes a raised, urticarial lesion. – Koebners phenomenon: It is the appearance of new skin lesions in areas of trauma.- Breakfast, lunch, and dinner sign: Linear pathway of a group of three to five papules caused by the common bed bug, Cimex lectularius. – Buttonhole sign: In type 1 neurofibromatosis, neurofibromas can be invaginated with the finger back into the subcutis. The nodule will reappear after the release of pressure. The sign is also positive for dermatofibromas. – Crowe’s sign: Axillary freckling seen in type I neurofibromatosis.