Wolfram Syndrome. Case report

Wojciech Tarała; Elzbieta Drachal; Artur Mazur; Bartosz Korczowski; Agnieszka Szadkowska; Agnieszka Zmysłowska; Wojciech Młynarski

eISSN: 2083-8441
ISSN: 2081-237X

Pediatric Endocrinology Diabetes and Metabolism

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abstract:

Case report

Wolfram Syndrome. Case report

Wojciech Tarała

,

Elzbieta Drachal

,

Artur Mazur

,

Bartosz Korczowski

,

Agnieszka Szadkowska

,

Agnieszka Zmysłowska

,

Wojciech Młynarski

Pediatr Endocrinol Diabetes Metab 2016;24,1:39-42

Online publish date: 2017/01/26

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Wolfram syndrome is a rare neurodegenerative and genetic disorder, characterized by insulin-dependent diabetes mellitus, caused by non-autoimmune loss of β cells, as well as optic atrophy; the disease is also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Patients that demonstrate diabetes mellitus are also affected by: optic atrophy in the first decade of their life, diabetes insipidus and sensorineural deafness in the second decade, and urinary tract and neurological abnormalities in the third decade of their life. Patients with Wolfram syndrome usually die due to central respiratory failures caused by brain stem atrophy in their third or at the beginning of their fourth decade of life. The authors present a case of two female siblings with diagnosed Wolfram syndrome that have been diagnosed with diabetes mellitus, optic atrophy, and urological abnormalities. Early diagnosis and adequate hormonal supplementation can improve their quality of life.

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Wolfram Syndrome. Case report

Wojciech Tarała , Elzbieta Drachal , Artur Mazur , Bartosz Korczowski , Agnieszka Szadkowska , Agnieszka Zmysłowska , Wojciech Młynarski

Wolfram Syndrome, children, case report

Wojciech Tarała

,

Elzbieta Drachal

,

Artur Mazur

,

Bartosz Korczowski

,

Agnieszka Szadkowska

,

Agnieszka Zmysłowska

,

Wojciech Młynarski