A lumbosacral lipoma is a form of congenital spinal lipoma and can be regarded as a cutaneous marker of dysraphism. It is not a skin condition but rather represents a defect in the process of neurulation and leads to a constellation of other abnormalities. The most common other systemic abnormalities associated with midline lumbosacral lipoma include complex anorectal and urological malformations. Other mentioned conditions are benign rashes or birthmarks.

One of the features of pyloric stenosis is hypochloraemic, hypokalaemic metabolic alkalosis. In emergency settings, capillary blood gas is the easiest and fastest way to establish a sustainable suspicion of pyloric stenosis. However, all tests are useful for the diagnosis of the condition.

Most cases of Trisomy 18, also called Edwards syndrome, are not inherited but occur as random events during the formation of eggs and sperm. An error in cell division called nondisjunction results in a reproductive cell with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 18. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra chromosome 18 in each of the body’s cells.Mosaic trisomy 18 is also not inherited. It occurs as a random event during cell division early in embryonic development. As a result, some of the body’s cells have the usual two copies of chromosome 18, and other cells have three copies of this chromosome.Partial trisomy 18 can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 18 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome 18. Although they do not have signs of trisomy 18, people who carry this type of balanced translocation are at an increased risk of having children with the condition.Canavan disease is a type of leukodystrophy and a degenerative disorder that causes progressive damage to nerve cells in the brain. It is inherited in an autosomal recessive manner.Cystic Fibrosis is the most common lethal recessive disease of white people, with a carrier frequency of 1:25 and is inherited in an autosomal recessive manner.Galactosaemic is autosomal recessive and due to mutations in the GALT gene.Phenylketonuria is the most common inborn error of metabolism in the UK with an incidence of 1:10,000 and a carrier rate of 1:50.

The history is suggestive of mumps. Mumps is a viral disease with initial signs and symptoms including fever, muscle pain, headache, poor appetite, and feeling tired. This is then usually followed by painful swelling of one or both parotid salivary glands. Mumps is a self-limiting condition treated only for symptomatic relief. As he currently is taking analgesics for pain relief, one should only offer reassurance.

Based on the presentation, she probably was administered co-amoxiclav.The liver function tests are highly suggestive of cholestatic jaundice, which is a classic adverse dug reaction related to co-amoxiclav use.Other options:- Erythromycin is more commonly associated with gastrointestinal (GI) disturbance.- Gentamicin is more commonly associated with renal impairment.- Meropenem does not commonly cause cholestasis but is associated with transaminitis.- Vancomycin is associated with red man syndrome on fast administration.

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).

The pituitary gland synthesizes and releases various hormones that affect several organs throughout the body.The pituitary gland is entirely ectodermal in origin but is composed of 2 functionally distinct structures that differ in embryologic development and anatomy: the adenohypophysis (anterior pituitary) and the neurohypophysis (posterior pituitary).The anterior pituitary has three main regions:Pars distalis: Where the main hormone production occursPars tuberalis: Joins the pituitary stalk arising from the posterior pituitary glandPars intermedia: Divides the anterior and posterior parts of the pituitary gland. The pars distalis forms the majority of the adenohypophysis and resembles a typical endocrine gland.

A ventricular septal defect (VSD) is a common form of congenital heart defects and is characterised by the presence of a hole in the wall that separates the right from the left ventricle. Medium or large defects can cause many complications. One of these complication is Eisenmenger syndrome, characterised by reversal of the shunt (from left-to-right shunt into a right-to-left) ,cyanosis and pulmonary hypertension.

The patient’s sugar levels typically show the Dawn phenomenon.Dawn phenomenon:This is an early morning rise in blood glucose levels secondary to a rise in hormones that increase blood glucose levels. The question suggests that he is undergoing a pubertal growth spurt, suggesting that an increase in these hormones is what has led to the higher morning glucose levels.Other options:- Inactivity at night-time: It is expected, and insulin dose should be adequate despite inactivity during the night.- Inadequate bedtime insulin: It is possible that this is a contributing factor. However, inadequate background insulin is also likely to result in high blood glucose in the day, which the question does not suggest.- Somogyi effect: There are no features suggestive of nocturnal hypoglycaemia that can cause the Somogyi effect.- Nocturnal glycogenesis: Glycogenesis would result in hypoglycaemia, not hyperglycaemia.

Rhabdomyosarcoma originates from skeletal muscle cells. A biopsy is needed for grading according to microscopy. Most patients are adult females.