Previously unreported abnormalities in Wolfram Syndrome Type 2

Halis Kaan Akturk; Seda Yasa

eISSN: 2083-8441
ISSN: 2081-237X

Pediatric Endocrinology Diabetes and Metabolism

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abstract:

Case report

Previously unreported abnormalities in Wolfram Syndrome Type 2

Halis Kaan Akturk

,

Seda Yasa

Pediatr Endocrino Diabetes Metab 2017;23,2:107-110

Online publish date: 2017/10/11

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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.

keywords:

Previously unreported abnormalities in Wolfram Syndrome Type 2

Halis Kaan Akturk , Seda Yasa

type 1 diabetes, Wolfram syndrome, optic atrophy, growth hormone deficiency, hypoparathyroidism, hypogonadism, osteomalacia

Halis Kaan Akturk

,

Seda Yasa