Journal
EUROPEAN JOURNAL OF PEDIATRICS
Volume 172, Issue 9, Pages 1255-1257Publisher
SPRINGER
DOI: 10.1007/s00431-013-2007-6
Keywords
Diabetes mellitus; Bone; Genetic diabetes; Neonate; Short stature; Wolcott Rallison syndrome
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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.
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