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

Abstract

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.

Keywords

• acute liver failure
• monogenic diabetes
• neonatal diabetes
• pediatrics
• skeletal dysplasia
• Wolcott‐Rallison syndrome