منابع مشابه
Wolcott-Rallison syndrome
Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease, characterized by neonatal/early-onset non-autoimmune insulin-requiring diabetes associated with skeletal dysplasia and growth retardation. Fewer than 60 cases have been described in the literature, although WRS is now recognised as the most frequent cause of neonatal/early-onset diabetes in patients with consanguineous paren...
متن کاملMulticystic dysplastic kidney: a new association of Wolcott–Rallison syndrome
Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder due to mutations in the EIF2AK3 gene. It is characterized by permanent neonatal diabetes mellitus, skeletal dysplasia, liver impairment, neutropenia and renal dysfunction. Liver is the most commonly affected organ and liver failure is the commonest cause of death in this syndrome. The EIF2AK3 gene encodes a transmembrane pro...
متن کاملKetoacidosis in Neonatal Diabetes Mellitus, Part of Wolcott-Rallison Syndrome
BACKGROUND Neonatal diabetes mellitus is a rare condition and it is important to differentiate it from other causes, such as hyperglycemia in infancy, for better outcomes. We report a case of an infant who presented to our neonatal intensive care unit in ketoacidosis and a comatose state. CASE REPORT Our case was an infant who presented to the neonatal intensive care unit at 38 days of age in k...
متن کاملNeonatal diabetes in Wolcott–Rallison syndrome: a case report
Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by the association of permanent neonatal or early-infancy insulin-dependent diabetes, multiple epiphyseal dysplasia and growth retardation, and other variable multisystem clinical manifestations. In the present study, we analyzed the EIF2AK3 gene in a 64 day-old-girl WRS patient and his parents to study the cli...
متن کاملWolcott-Rallison Syndrome with Novel EIF2AK3 Gene Mutation
©Jo ur nal of Cli ni cal Re se arch in Pe di at ric En doc ri no logy, Pub lis hed by Ga le nos Pub lis hing. Dear Editor, Wolcott-Rallison syndrome (WRS; Online Mendelian Inheritance in Man 226980) is an autosomal recessively inherited disorder characterized by neonatal insulin-dependent diabetes mellitus, skeletal dysplasia (epiphyseal dysplasia), acute hepatic and/or renal dysfunction, exocr...
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ژورنال
عنوان ژورنال: Journal of Indian Society of Pedodontics and Preventive Dentistry
سال: 2012
ISSN: 0970-4388
DOI: 10.4103/0970-4388.105019