Published online Jun 26, 2019. doi: 10.12998/wjcc.v7.i12.1456
Peer-review started: January 25, 2019
First decision: March 14, 2019
Revised: April 11, 2019
Accepted: May 2, 2019
Article in press: May 3, 2019
Published online: June 26, 2019
The features of Shwachman-Diamond syndrome (SDS) include exocrine pancreatic insufficiency, skeletal abnormalities and bone marrow dysfunction; an often overlooked feature is hepatic involvement.
We report a child who initially presented with failure to thrive and mildly elevated transaminase levels and was determined to have pancreatic insufficiency due to SDS. During follow-up he had persistently elevated transaminase levels and developed hepatosplenomegaly. An investigation was performed to determine the etiology of ongoing liver injury, including a liver biopsy which revealed hepatic cirrhosis.
Cirrhosis has rarely been reported with SDS. While many of the hepatic disorders associated with SDS improve with age, there are rare exceptions with serious implications for long-term outcome.
Core tip: Shwachman-Diamond syndrome (SDS) is an uncommon disorder characterized by skeletal abnormalities, bone marrow dysfunction and exocrine pancreatic insufficiency (EPI); a rarely reported complication is hepatic cirrhosis. Similar to the natural history of EPI, most of the hepatic abnormalities associated with SDS improve or resolve with age. We report this patient to highlight the importance of close follow-up of patients with SDS and hepatic dysfunction as some will progress to cirrhosis, which portends a less favorable prognosis.