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