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

Lundgren, Markus; De Franco, Elisa; Arnell, Henrik; Fischler, Björn

doi:10.1002/ccr3.2168

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

Journal Article · Wed May 01 00:00:00 EDT 2019 · Clinical Case Reports

DOI:https://doi.org/10.1002/ccr3.2168· OSTI ID:1510336

^[1]; De Franco, Elisa ^[2]; Arnell, Henrik ^[3]; Fischler, Björn ^[3]

Department of Clinical Sciences, CRC Malmö Lund University Malmö Sweden, Department of Pediatrics Kristianstad Central Hospital Kristianstad Sweden
Institute of Biomedical &, Clinical Science University of Exeter Exeter UK
Department of Pediatric Gastroenterology, Hepatology and Nutrition Karolinska University Hospital Stockholm Sweden, Division of Pediatrics CLINTEC, Karolinska Institutet Stockholm Sweden

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.

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Sponsoring Organization:: USDOE

OSTI ID:: 1510336

Alternate ID(s):: OSTI ID: 1510337

Journal Information:: Clinical Case Reports, Journal Name: Clinical Case Reports Vol. 7 Journal Issue: 6; ISSN 2050-0904

Publisher:: Wiley Blackwell (John Wiley & Sons)Copyright Statement

Country of Publication:: Country unknown/Code not available

Language:: English

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