Vzácné formy diabetu mellitu v dětství:Wolfram-like syndrom

KONEČNÁ, Petra, Zuzana HRUBÁ, Jarmila SKOTÁKOVÁ, Lenka FAJKUSOVÁ, Zdeněk DOLEŽEL and Dagmar PROCHÁZKOVÁ. Vzácné formy diabetu mellitu v dětství:Wolfram-like syndrom. In IV.Kongres pediatrů v Brně, Pediatrie pro praxi, 2017, suppl.D,s.12. 2017. ISBN 978-80-7471-202-9.

Basic information

• Original name: Vzácné formy diabetu mellitu v dětství:Wolfram-like syndrom
• Name in Czech: Vzácné formy diabetu mellitu v dětství:Wolfram-like syndrom
• Authors: KONEČNÁ, Petra, Zuzana HRUBÁ, Jarmila SKOTÁKOVÁ, Lenka FAJKUSOVÁ, Zdeněk DOLEŽEL and Dagmar PROCHÁZKOVÁ.
• Edition: IV.Kongres pediatrů v Brně, Pediatrie pro praxi, 2017, suppl.D,s.12, 2017.

Other information

• Original language: Czech
• Type of outcome: Conference abstract
• Field of Study: 30209 Paediatrics
• Country of publisher: Czech Republic
• Confidentiality degree: is not subject to a state or trade secret
• Organization unit: Faculty of Medicine
• ISBN: 978-80-7471-202-9
• Keywords (in Czech): diabetes mellitus Wolfram like syndrom
• Keywords in English: diabetes mellitus Wolfram like syndrom

Abstract (in English)

Objective: The Wolfram-like syndrome-WFSL is a rare autosomal dominant disease characterised by the triad: congenital progressive hearing loss, diabetes mellitus and optic atrophy.Methods: the case of a boy with the juvenile form of diabetes mellitus, which clinically matched the symptoms of the Wolfram syndrome, was studied using molecular-genetic methods.Results: At the age of 3¼ years diabetes mellitus was diagnosed in a boy with severe psychomotor retardation, failure to thrive, a dysmorphic face with Peters’s anomaly type III (i.e. posterior central defect with stromal opacity of the cornea, adhering stripes of the iris and cataract with corneolenticular adhesion); congenital glaucoma; megalocornea; severe hearing impairment to deafness; one-sided deformity of the auricle with atresia of the bony and soft external auditory canal; non-differentiable eardrum; missing os incus; and hypothyreosis and nephrocalcinosis. Molecular-genetic examinations revealed de novo mutation of c.2425G>A in the WFS1 gen. No mutations were proved in the biological parents.Conclusions: Mutation c.2425G>A in the WFS1 gen is associated with the occurrence of the Wolfram-like syndrome-WFSL.