Service interruption on Monday 11 July from 12:30 to 13:00: all the sites of the CCSD (HAL, Epiciences, SciencesConf, AureHAL) will be inaccessible (network hardware connection).
Skip to Main content Skip to Navigation
Journal articles

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.
Document type :
Journal articles
Complete list of metadata

https://hal-riip.archives-ouvertes.fr/pasteur-01854635
Contributor : Michel Courcelles Connect in order to contact the contributor
Submitted on : Monday, August 6, 2018 - 9:00:27 PM
Last modification on : Monday, January 11, 2021 - 12:17:04 AM

Identifiers

Collections

Citation

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⟩

Share

Metrics

Record views

18