@Article{Akturk2017,
journal="Pediatric Endocrinology Diabetes and Metabolism",
issn="2081-237X",
volume="23",
number="2",
year="2017",
title="Previously unreported abnormalities in Wolfram Syndrome Type 2",
abstract="Wolfram syndrome (WFS) is a rare autosomal recessive disease with non-autoimmune childhood onset insulin dependent diabetes and optic atrophy. WFS type 2 (WFS2) differs from WFS type 1 (WFS1) with upper intestinal ulcers, bleeding tendency and the lack ofdiabetes insipidus. Li-fespan is short due to related comorbidities. Only a few familieshave been reported with this syndrome with the CISD2 mutation. Here we report two siblings with a clinical diagnosis of WFS2, previously misdiagnosed with type 1 diabetes mellitus and diabetic retinopathy-related blindness. We report possible additional clinical and laboratory findings that have not been pre-viously reported, such as asymptomatic hypoparathyroidism, osteomalacia, growth hormone (GH) deficiency and hepatomegaly. Even though not a requirement for the diagnosis of WFS2 currently, our case series confirm hypogonadotropic hypogonadism to be also a feature of this syndrome, as reported before.",
author="Akturk, Halis Kaan
and Yasa, Seda",
url="https://www.termedia.pl/-Dotychczas-niezglaszane-nieprawidlowosci-w-zespole-Wolframa-typu-2-,138,36621,1,1.html"
}