Results 51 to 60 of about 1,384 (167)
Teaching NeuroImages: MRI of brain findings of Wolfram (DIDMOAD) syndrome
, 2014 A 31-year-old woman was diagnosed with type 1 diabetes mellitus (DM) at age 5 years and subsequently with hypothyroidism at age 16 years. She developed progressive visual loss at age 19 years and progressive hearing loss at age 28 years.
GÖÇMEN, RAHŞAN, GULER, Ezgi
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Unusual ocular manifestation in Wolfram syndrome
Indian Journal of Ophthalmology. Case ReportsWolfram syndrome (WS), also known as diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD), is a rare neurodegenerative disease. Bilateral optic atrophy is the most common ocular manifestation of the syndrome.
Sowmya Raveendra Murthy +2 more
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Two brothers with late onset Wolfram syndrome
Journal of Clinical and Translational Endocrinology Case ReportsWolfram syndrome (OMIM #222300) is a rare cause of diabetes mellitus. Mutations in the WFS1 (Wolfram Syndrome-1) gene lead to diabetes mellitus, as well as deafness, neurological symptoms, urological and endocrinological disorders.
Lodi CW. Roksnoer +3 more
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Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome
Orphanet Journal of Rare Diseases, 2019 Background Wolfram Syndrome (WFS) is a rare autosomal recessive neurodegenerative disease which has a wide spectrum of manifestations including diabetes insipidus, diabetes mellitus, optic atrophy and deafness.
Youjia Zhang +5 more
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A rare case of hypogonadism with Wolfram syndrome in an adult patient: A case report
Journal of Clinical and Translational Endocrinology Case ReportsThe Wolfram syndrome is a rare dysmorphogenetic disease of autosomal recessive hereditary nature, characterized by insulin-dependent diabetes mellitus; the disease also has a constellation of other complications contributing to the acronym DIDMOAD ...
Alvina Karam +2 more
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A cost of illness study evaluating the burden of Wolfram syndrome in the United Kingdom
Orphanet Journal of Rare Diseases, 2019 Background Wolfram syndrome is a rare genetic, progressive, neurodegenerative disorder characterised by childhood-onset diabetes mellitus, diabetes insipidus, optic atrophy and deafness.
Sana Eljamel +5 more
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A Case with Wolfram (DIDMOAD) Syndrome
Annals of Clinical and Analytical Medicine, 2013 Ozet Wolfram sendromu 1/770000 oraninda gorulen patogenezi tam olarak bilinme- yen otozomal resesif kalitimli, dismorfogenetik bir hastaliktir. DIDMOAD sendro- mu (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness) olarak da isimlendirilen bu sendrom baslica diabetes insipitus, diabetes mellitus, optik at- rofi ve sagirlikla ...
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Bilateral Optic Nerve Atrophy Case Report
Majalah Kedokteran BandungWolfram syndrome, also known as DIDMOAD or juvenile onset diabetes mellitus, optic nerve atrophy, diabetes insipidus, and deafness, is a genetic neurological condition.
Mohammed R. Naqeeb, Dina M Abdulmannan
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DIDMOAD syndrome DIDMOAD-SYNDROM
, 1994 The DIDMOAD or so called Wolfram syndrome is a hereditary disease with autosomal-recessive transmission showing 4 main features: diabetes mellitus, diabetes insipidus, nervus opticus atrophia and deafness. Beside this it shows multiple organ involvement.
Arikan, E. +6 more
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Thiamine– Responsive Megaloblastic Anemia Syndrome
Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2009 Thiamine Responsive megaloblastic anemia in DIDMOA (Wolfram) syndrome has an autosomal- recessive mode of inheritance . Megaloblastic anemia and sideroblastic anemia is accompanied by diabetes insipidus (DI), diabetes mellitus (DM) ,optic atrophy (OA ...
F Motavaselian +5 more
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