4.1 Article

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

期刊

CLINICAL CASE REPORTS
卷 7, 期 6, 页码 1133-1138

出版社

WILEY
DOI: 10.1002/ccr3.2168

关键词

acute liver failure; monogenic diabetes; neonatal diabetes; pediatrics; skeletal dysplasia; Wolcott-Rallison syndrome

资金

  1. Kristianstad Central Hospital Research and Development Fund
  2. Skane County Council Foundation for Research and Development - Wellcome Trust

向作者/读者索取更多资源

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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