Open Access
Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report
Author(s) -
Lundgren Markus,
De Franco Elisa,
Arnell Henrik,
Fischler Björn
Publication year - 2019
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.2168
Subject(s) - medicine , intensive care medicine , pediatrics , neutropenia , exocrine pancreatic insufficiency , diabetes mellitus , pancreas , gastroenterology , endocrinology , toxicity
Key Clinical Message Wolcott‐Rallison syndrome is a rare genetic syndrome of neonatal diabetes, liver failure, and growth retardation. We present a case with a EIF2AK3 p.(Arg902Ter) mutation, additionally complicated by hypothyroidism, impaired renal function, and exocrine pancreas insufficiency, focusing on clinical management. For its optimization, thorough care of multiple organ systems is needed.