World Journal of Pediatrics

, Volume 7, Issue 4, pp 371–372

Neonatal diabetes mellitus due to L233F mutation in the KCNJ11 gene

Case Report

DOI: 10.1007/s12519-011-0254-z

Cite this article as:
Joshi, R. & Phatarpekar, A. World J Pediatr (2011) 7: 371. doi:10.1007/s12519-011-0254-z

Abstract

Background

Neonatal diabetes mellitus (NDM) due to KCNJ11 gene mutation presents with diabetes in the first 3 months of life and sometimes with neurological features like developmental delay, muscle weakness and epilepsy.

Methods

A 5-week-old boy presented with diabetic ketoacidosis. Molecular genetic analysis of the patient revealed heterozygous missense mutation, L233F in the KCNJ11 gene, while his mother was mosaic for the same mutation.

Results

The treatment strategy was changed from insulin injections to oral glibenclamide and with a better glycemic control.

Conclusion

The patient with NDM due to mutation L233F (not reported till date) in the KCNJ11 gene can be successfully treated with oral glibenclamide therapy.

Key words

insulinKCNJ11neonatal diabetes mellitus

Copyright information

© Children's Hospital, Zhejiang University School of Medicine and Springer-Verlag Berlin Heidelberg 2011

Authors and Affiliations

  1. 1.Division of Pediatric Endocrinology, Department of PediatricsB. J. Wadia Hospital for Children ParelMumbaiIndia
  2. 2.Saibaba Nagar, Borivali (West), MumbaiIndia