Abstract
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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References
Babenko AP, Polak M, Cave H, Busiah K, Czernichow P, Scharfmann R, Bryan J, Aguilar-Bryan L, Vaxillaire M, Froguel P (2006) Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med 355:456–466
Bappal B, Raghupathy P, de Silva V, Khusaiby SM (1999) Permanent neonatal diabetes mellitus: clinical presentation and epidemiology in Oman. Arch Dis Child Fetal Neonatal Ed 80:F209–F212
Flanagan SE, Patch AM, Mackay DJ, Edghill EL, Gloyn AL, Robinson D, Shield JP, Temple K, Ellard S, Hattersley AT (2007) Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 56:1930–1937
Greeley SA, Naylor RN, Philipson LH, Bell GI (2011) Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment. Curr Diab Rep 11:519–532
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 27:709–712
Habeb AM, Al-Magamsi MS, Eid IM, Ali MI, Hattersley AT, Hussain K, Ellard S (2012) Incidence, genetics, and clinical phenotype of permanent neonatal diabetes mellitus in northwest Saudi Arabia. Pediatr Diabetes 13(6):499–505. doi:10.1111/j.1399-5448.2011.00828.x
Julier C, Nicolino M (2010) Wolcott-Rallison syndrome. Orphanet J Rare Dis 5:29
Ozbek MN, Senee V, Aydemir S, Kotan LD, Mungan NO, Yuksel B, Julier C, Topaloglu AK (2010) Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature. Pediatr Diabetes 11:279–285
Pinheiro M, Freire-Maia N, Chautard-Freire-Maia EA, Araujo LM, Liberman B (1983) AREDYLD: a syndrome combining an acrorenal field defect, ectodermal dysplasia, lipoatrophic diabetes, and other manifestations. Am J Med Genet 16:29–33
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 53:1876–1883
Sperling MA (2008) Pediatric Endocrinology, 3rd edn. Elsevier Limited, Oxford
Stoy J, Greeley SA, Paz VP, Ye H, Pastore AN, Skowron KB, Lipton RB, Cogen FR, Bell GI, Philipson LH, United States Neonatal Diabetes Working G (2008) Diagnosis and treatment of neonatal diabetes: a United States experience. Pediatr Diabetes 9:450–459
Thornton CM, Carson DJ, Stewart FJ (1997) Autopsy findings in the Wolcott-Rallison syndrome. Pediatr Pathol Lab Med 17:487–496
Tommasini A, Ferrari S, Moratto D, Badolato R, Boniotto M, Pirulli D, Notarangelo LD, Andolina M (2002) X-chromosome inactivation analysis in a female carrier of FOXP3 mutation. Clin Exp Immunol 130:127–130
von Muhlendahl KE, Herkenhoff H (1995) Long-term course of neonatal diabetes. N Engl J Med 333:704–708
Wiedemann B, Schober E, Waldhoer T, Koehle J, Flanagan SE, Mackay DJ, Steichen E, Meraner D, Zimmerhackl LB, Hattersley AT, Ellard S, Hofer S (2010) Incidence of neonatal diabetes in Austria-calculation based on the Austrian Diabetes Register. Pediatr Diabetes 11:18–23
Wolcott CD, Rallison ML (1972) Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia. J Pediatr 80:292–297
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Hawkes, C.P., McGlacken-Byrne, S.M. & Murphy, N.P. Short stature in child with early-onset diabetes. Eur J Pediatr 172, 1255–1257 (2013). https://doi.org/10.1007/s00431-013-2007-6
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DOI: https://doi.org/10.1007/s00431-013-2007-6