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- C P Hawkes, S M McGlacken-Byrne, and N P Murphy.
- Department of Paediatric Endocrinology, Children's University Hospital, Temple Street, Dublin, Ireland.
- Eur. J. Pediatr. 2013 Sep 1;172(9):1255-7.
AbstractWe present a girl who initially presented at 12 weeks of age with antibody negative diabetes. Genetic screening for common mutations of monogenic diabetes was negative. She was noted to have short stature at 8 years of age (height <0.4 centile), as well as overlapping toes and distal abnormalities of her fingers. On reevaluation, further investigation revealed an EIF2AK3 mutation, and a diagnosis of Wolcott Rallison syndrome was made. This case highlights the importance of close follow up of patients with neonatal diabetes for the development of syndromic features that may lead to a unifying diagnosis.
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