Cirrhosis complicating Shwachman-Diamond syndrome: A case report

Abstract

BACKGROUND

The features of Shwachman-Diamond syndrome (SDS) include exocrine pancreatic insufficiency, skeletal abnormalities and bone marrow dysfunction; an often overlooked feature is hepatic involvement.

CASE SUMMARY

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.

CONCLUSION

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.

Keywords: Shwachman-Diamond syndrome; Cirrhosis; Liver dysfunction; Case report

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.