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.
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Submitted on : Monday, August 6, 2018 - 9:00:27 PM
Last modification on : Friday, July 26, 2019 - 2:14:10 PM

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Halis Kaan Akturk, Seda Yasa. Previously unreported abnormalities in Wolfram Syndrome Type 2. Pediatric Endocrinology Diabetes and Metabolism, 2017, 23 (2), pp.107 - 110. ⟨10.18544/PEDM-23.02.0081⟩. ⟨pasteur-01854635⟩

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