Salt-Wasting Form of Congenital Adrenal Hyperplasia: A Case Report.

Congenital adrenal hyperplasia (CAH) is a set of autosomal recessive disorders characterized by enzyme abnormalities in the adrenal steroidogenesis pathway, which cause impaired cortisol biosynthesis. Glucocorticoid, mineralocorticoid, and sex steroid production can all be altered in individuals, necessitating hormone replacement therapy. The symptoms might range from prenatal salt loss and abnormal genitalia to adult hirsutism and irregular menses. We present the case of a girl who presented with a seizure initially at the age of three months. Laboratory results revealed hypoglycemia, hyponatremia, and hyperkalemia with increased renin activity, increased adrenocorticotropic hormone (ACTH), low aldosterone, low cortisol, high dehydroepiandrosterone sulfate (DHEAS), and high 17 hydroxyprogesterone levels. Imaging findings were normal. The patient was managed with hydrocortisone and fludrocortisone. She is currently on regular follow-up and is doing well with dexamethasone therapy.

Case Report: A rare case of choledochal cyst.

Background: Choledochal cysts are dilated portions of the biliary tract that account for 1% of all benign biliary diseases. It is prevalent among Asian and female populations and the incidence is 1:100,000-150,000. Among the different types, only 15-35% of all choledochal cysts are type IV cysts, with type I being the most common representing 50-80%. Clinical presentation and therapy of biliary cysts (BC) differ depending on the type. Case: We present a case of a 2-year-old male who presented with non-specific symptoms of multiple episodes of vomiting. Laboratory investigations revealed raised alkaline phosphatase and gamma-glutamyl transpeptidase. His symptoms of acute pancreatitis were resolved with conventional therapy. Ultrasonography of the abdomen showed intra and extra-hepatic cystic biliary tree dilatation suggestive of choledochal cyst Type IV A. Conclusions: Choledochal cysts present with clinical features varying with age and anatomical variants and can pose challenges in management that can be addressed by surgery to avoid further complications.