Wolcott Rallison syndrome: a rare inherited diabetes mellitus.

Abstract:

:A 9-y-old boy was referred to authors' institute for the management of insulin dependent diabetes mellitus. He was the product of third degree consanguineous marriage and was delivered by full term vaginal delivery with a birth weight of 2.75 kg. At 3 mo of age, he had presented with diabetic ketoacidosis and was on insulin regimen. Patient had delayed milestones and short stature. On follow up, child developed limb deformity and was diagnosed to have skeletal dysplasia. At the age of 9 y, patient was diagnosed to have cirrhosis of liver. Genetic analysis revealed homozygous EIF2AK3 nonsense mutation. It confirmed the diagnosis of Wolcott-Rallison syndrome. Patient's mother was heterozygous for the same mutation.

journal_name

Indian J Pediatr

authors

Khare S,Goroshi MR,Budyal S,Bandgar T,Lila A,Shah N

doi

10.1007/s12098-014-1422-7

subject

Has Abstract

pub_date

2014-11-01 00:00:00

pages

1225-7

issue

11

eissn

0019-5456

issn

0973-7693

journal_volume

81

pub_type

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