Reversal of portal gastropathy with partial internal biliary diversion in a case of progressive familial intrahepatic cholestasis.

Progressive intrahepatic cholestasis is a rare, genetic disorder causing bile acid secretion or transport defects. It can result in intrahepatic cholestasis that can progress to end-stage liver disease. Diagnosis is made using a combination of clinical and biochemical approaches. Genetic testing is currently the gold standard for investigation. We report a case of an 18-month-old male child with cholestatic pattern of jaundice from 16 months of life, which was associated with features suggestive of portal gastropathy. Detailed workup led to the diagnosis of progressive intrahepatic cholestasis (type 2). Early diagnosis prevented the need for liver transplant, and the child underwent surgical treatment with partial internal biliary diversion. Portal gastropathy and disease progression dramatically changed with corrective surgery. The patient was symptom-free at 10-week follow-up. Detecting this rare genetic disorder early has very good therapeutic implications from the patient's perspective and their morbidity and mortality profile; if untreated, it has a high propensity to progress to end-stage liver disease. The requirement of surgical interventions and liver transplantation is individualized on a case-to-case basis. An early diagnosis and initiation of treatment can prevent the need for a liver transplant as shown in the present case.

Giant Bilateral Adrenal Myelolipoma: Case Report.

Adrenal myelolipomas are nonfunctional tumors that are usually asymptomatic; however, they have been known to coexist with other endocrine disorders, such as Cushing's syndrome, congenital adrenal hyperplasia (CAH), Conn's syndrome, and pheochromocytoma. We report a case of a 49-year-old man with hypertension and diabetes mellitus who complained of chronic abdominal pain, vomiting, and early satiety. Preoperative contrast-enhanced computerized tomography (CECT) was performed, and adrenal myelolipoma was considered, lab investigations revealed a nonfunctional tumor. CECT also revealed bilateral renal cortical cyst, right renal calculi, and hepatic cyst. A left open cortical sparing adrenalectomy was performed, pathological examination confirmed the diagnosis, and a radiological surveillance was planned for the right tumor. Four years following this, the patient came back with a similar presentation. Right adrenalectomy was performed after preoperative workup, and subsequently steroid replacement therapy was initiated. We suggest adequate follow-up of a patient presenting with adrenal myelolipoma and to explore the possibility of establishing a syndromic diagnosis such as autosomal dominant polycystic kidney disease (ADPKD).