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

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

doi:10.1002/ccr3.2168

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

Clin Case Rep. 2019 May 1;7(6):1133-1138. doi: 10.1002/ccr3.2168. eCollection 2019 Jun.

Authors

Markus Lundgren^{1

2}, Elisa De Franco³, Henrik Arnell^{4

5}, Björn Fischler^{4

5}

Affiliations

¹ Department of Clinical Sciences, CRC Malmö Lund University Malmö Sweden.
² Department of Pediatrics Kristianstad Central Hospital Kristianstad Sweden.
³ Institute of Biomedical & Clinical Science University of Exeter Exeter UK.
⁴ Department of Pediatric Gastroenterology, Hepatology and Nutrition Karolinska University Hospital Stockholm Sweden.
⁵ Division of Pediatrics CLINTEC, Karolinska Institutet Stockholm Sweden.

Abstract

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.

Keywords: Wolcott‐Rallison syndrome; acute liver failure; monogenic diabetes; neonatal diabetes; pediatrics; skeletal dysplasia.

Publication types

Case Reports