Short stature in child with early-onset diabetes
We 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.
KeywordsDiabetes mellitus Bone Genetic diabetes Neonate Short stature Wolcott Rallison syndrome
Conflict of interest
The authors have no conflicts of interest to declare.
- 5.Grulich-Henn J, Wagner V, Thon A, Schober E, Marg W, Kapellen TM, Haberland H, Raile K, Ellard S, Flanagan SE, Hattersley AT, Holl RW (2010) Entities and frequency of neonatal diabetes: data from the diabetes documentation and quality management system (DPV). Diabet Med 27:709–712PubMedCrossRefGoogle Scholar
- 10.Senee V, Vattem KM, Delepine M, Rainbow LA, Haton C, Lecoq A, Shaw NJ, Robert JJ, Rooman R, Diatloff-Zito C, Michaud JL, Bin-Abbas B, Taha D, Zabel B, Franceschini P, Topaloglu AK, Lathrop GM, Barrett TG, Nicolino M, Wek RC, Julier C (2004) Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity. Diabetes 53:1876–1883PubMedCrossRefGoogle Scholar
- 11.Sperling MA (2008) Pediatric Endocrinology, 3rd edn. Elsevier Limited, OxfordGoogle Scholar