Cirrhosis complicating Shwachman-Diamond syndrome: A case report

World Journal of Clinical Cases
Sandra M CamachoMichael J Nowicki

Abstract

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.

References

Nov 1, 1979·Clinical Pediatrics·W M LiebmanM M Thaler
Aug 1, 1978·Archives of Disease in Childhood·M MäkiJ K Visakorpi
May 1, 1980·Archives of Disease in Childhood·P J AggettJ T Harries
Jul 1, 1994·Journal of Pediatric Gastroenterology and Nutrition·M WilschanskiP Durie
Sep 1, 1999·Journal of Pediatric Gastroenterology and Nutrition·M CipolliG Mastella
May 1, 1964·Acta Paediatrica·M BODIANR LIGHTWOOD
Nov 1, 1964·The Journal of Pediatrics·H SHWACHMANK T KHAW
Aug 18, 2009·The Journal of Pediatrics·Sanna Toiviainen-SaloOuti Mäkitie

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Citations

Feb 21, 2021·Medicine·Huihan TanZhiqiang Zhuo

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Methods Mentioned

BETA
biopsies
biopsy

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