Deoxyguanosine kinase deficiency and recurrent spontaneous pneumothorax: a case report.

Background: Deoxyguanosine kinase deficiency is mainly manifested by hepatic and neurological damage, hence it belongs to the hepatocerebral form of mitochondrial deoxyribonucleic acid depletion syndrome. The association between deoxyguanosine kinase deficiency and recurrent spontaneous pneumothorax has not currently been reported.

Case Presentation: A 12-year-old Russian boy with deoxyguanosine kinase deficiency, a recipient of a liver transplant with amyotrophy secondary to his mitochondriopathy, presented with recurrent spontaneous bilateral pneumothorax refractory to drainage and surgery.

Mass-forming intrahepatic cholangiocarcinoma presenting with painful obstructive hemobilia.

We report a very rare case of acute obstructive hemobilia caused by bleeding of a mass-forming intrahepatic cholangiocarcinoma in a 75-year old man. The prompt complete emergency diagnosis was made by ultrasound and confirmed by MDCT. The features of hemobilia and intrahepatic cholangiocarcinoma are briefly reviewed.