Infantile onset diabetes mellitus and recurrent hepatic encephalopathy

Infantile onset diabetes mellitus and recurrent hepatic encephalopathy

We present a case with recurrent hepatic encephalopathy and infantile onset diabetes mellitus where a novel mutation was detected in the EIF2AK3 gene which confirmed the Wolcott Rallison syndrome (WRS) and also briefly review literature related to WRS. Insulin dependent diabetes mellitus (IDDM) diag...

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Bibliographic Details
Main Authors: Muthiah Periyakaruppan, Mahendra Singh Rathore, Gouri Rao Passi
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2019-01-01
Series:Journal of Pediatric Critical Care
Subjects:
neonatal permanent diabetes mellitus
wolcott rallison syndrome
hepatic encephalopathy
Online Access:http://www.jpcc.org.in/article.asp?issn=2349-6592;year=2019;volume=6;issue=6;spage=45;epage=46;aulast=Periyakaruppan
Description
Summary:We present a case with recurrent hepatic encephalopathy and infantile onset diabetes mellitus where a novel mutation was detected in the EIF2AK3 gene which confirmed the Wolcott Rallison syndrome (WRS) and also briefly review literature related to WRS. Insulin dependent diabetes mellitus (IDDM) diagnosed below the age of 6 months is often due to genetic mutations related to pancreatic development and insulin production. They need to be recognized as some respond to oral drugs like sulphonylureas and need recurrence risk evaluation for the next sibling.
ISSN:2349-6592
2455-7099

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