megacystis microcolon intestinal hypoperistalsis syndrome (mmihs) is a rare and the most severe form of functional intestinal obstruction in the newborn. the characteristic features of this congenital and fatal disease are abdominal distension, absent or decreased bowel peristalsis. abdominal distension is a consequence of the distended, unobstructed urinary bladder with or without hydronephros...

He was deeply icteric on examination, with marked ascites and a four-fingerbreadth hepar palpable in the abdomen. He had sinus tachycardia (rate lOObpm) and was tachypnoeic (respiratory rate 20 breaths per minute). Decreased air entry was noted bibasally, more marked on the right; oxygen saturation was normal. Bilateral pitting oedema to the knees and presacral oedema were also evident. Testes ...

A 26-year-old Indigenous man presented with icteric sclera and skin on a background of 6 weeks of fatigue. He worked as a dockyard labourer, had no previous medical history, was not taking any medications regularly, did not smoke cigarettes or use any illicit substances, and did not drink alcohol to excess. Results of a physical examination were otherwise unremarkable — he had no features to su...

A 26-year-old male with renal allograft, who received immunosuppressive treatment with azathioprine, presented marked elevations of serum biliary tract enzymes, such as gamma-glutamyl transpeptidase (5,609 units/l) and alkaline phosphatase (60.5 Bessey-Lowry units), 14 months after transplantation. Two months later the patient became icteric; he died of respiratory failure 19 months after the r...

Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rapidly developing hepatic disease that leads to early childhood cirrhosis and liver failure. We present a diagnostically challenging case of a 20-year-old male with 8 years history of recurrent icteric episodes and constantly normal serum levels of GGT. Genetic study disclosed two novel mutations in gene ABCB11 and liver histopa...