Hypokalemic Periodic Paralysis Hypokalemic periodic paralysis (HPP) is a rare neuromuscular disorder caused by a muscle ion channel defect, resulting in painless muscle weakness with associated low potassium blood levels. Total-body muscle weakness may occur periodically with either a true potassium deficit or, more commonly, a potassium shift intracellularly. Synonyms Periodic paralysis Hypokalemic nonperiodic paralysis …
10 Interesting Facts of Hypoplastic Left Heart Syndrome Hypoplastic left heart syndrome is a rare congenital heart condition in which left-sided heart structures are variably underdeveloped and unable to support the systemic circulation Prenatal diagnosis through routine ultrasonography screening is the most common presentation A minority of neonates without known prenatal diagnosis are discharged from newborn …
Congenital Adrenal Hyperplasia Congenital Adrenal Hyperplasia is a group of rare inherited autosomal recessive disorders characterized by a deficiency of one of the enzymes needed to make specific hormones CAH is a mitochindrial disease. CAH effects the adrenal glands located at the top of each kidney. Congenital adrenal hyperplasia (CAH) is a spectrum of disorders …
6 Interesting Facts of Congenital Megacolon Congenital megacolon is defined by the absence of enteric neurons in the distal colon Age of presentation and the type of symptoms that occur vary dramatically among patients Failure to pass meconium within 48 hours of delivery is the classic presentation of congenital megacolon in neonates After newborn period, …
7 Interesting Facts of Congenital Diaphragmatic Hernia Congenital diaphragmatic hernia is a diaphragmatic defect, present since birth, that allows herniation of abdominal organs into the thoracic cavity Most cases are identified at routine prenatal ultrasonography; postnatal presentation is with respiratory distress beginning acutely after birth Uncommonly, condition is asymptomatic in neonatal period and presents later …
Craniopharyngioma Craniopharyngiomas are tumors arising from squamous cell remnants of Rathke pouch, located in the infundibulum or upper anterior hypophysis. Synonym Subset of nonadenomatous pituitary tumors Epidemiology & Demographics The point prevalence of this tumour is approximately 1/50,000. Predominant Sex: •Both sexes are usually equally affected. •Craniopharyngiomas are the most common nonglial tumors in children …
Cyclic Vomiting Syndrome (CVS) Cyclic vomiting syndrome (CVS), an idiopathic disorder primarily seen in children, is characterized by recurrent, stereotypical episodes of vomiting with varying asymptomatic periods. Epidemiology & Demographics Incidence & Prevalence •Cross-sectional study of school-age children in Aberdeen, Scotland, estimated that 1.6% fulfilled diagnostic criteria. •Average age of time of diagnosis: 9.6 yr. •Average …