Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report

Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report

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, fo...

Full description

Bibliographic Details
Main Authors: Markus Lundgren, Elisa De Franco, Henrik Arnell, Björn Fischler
Format: Article
Language:English
Published: Wiley 2019-06-01
Series:Clinical Case Reports
Subjects:
acute liver failure
monogenic diabetes
neonatal diabetes
pediatrics
skeletal dysplasia
Wolcott‐Rallison syndrome
Online Access:https://doi.org/10.1002/ccr3.2168
Description
Summary: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.
ISSN:2050-0904

Similar Items