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Atypical presentations of Wolframs syndrome
Indian Journal of Endocrinology and Metabolism, 2012 Background: Wolfram syndrome is a rare hereditary or sporadic neurodegenerative disorder also known as DIDMOAD. The classically described presentation is of insulin-dependent diabetes, followed by optic atrophy, central diabetes insipidus, and sensory ...
S Saran +6 more
doaj +1 more source
, 2013 DIDMOAD Syndrome (Wolfram Syndrome) is presented with diabetes insipidus, diabetes mellitus, optic atrophy, and deafness at childhood. We evaluated the anatomic and functional responses after bilateral intravitreal injection of bevacizumab for a ...
Çeliker, Ülkü +3 more
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Клінічний випадок неповної форми синдрому вольфрама
Сучасна педіатрія: Україна, 2019 Синдром Вольфрама (WS, DIDMOAD-синдром) — це автосомно-рецесивне дегенеративне захворювання із прогресуючим перебігом. Повний синдром включає чотири складові: цукровий діабет 1 типу, центральний нецукровий діабет, атрофію зорових нервів і нейросенсорну ...
M. A. Ryznychuk +4 more
doaj
DIDMOAD (Wolfram) syndrome [PDF]
British Journal of Psychiatry, 1994 M. Kellner +4 more
openaire +1 more source
Multifaceted diabetes: а clinical case [PDF]
DIDMOAD syndrome (Wolfram syndrome type 1 is an orphan multisystem mitochondrial dysfunction, the name of which is an acronym for the combination of the following nosologies: Diabetes Insipidus (DI), Diabetes Mellitus (DM), Optic Atrophy (OA), Deafness ...
Tokareva, N.М. +3 more
core +1 more source
Case Reports in Endocrinology, 2018 Background. Classical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in WFS1, a gene implicated in endoplasmic reticulum (ER) and mitochondrial function.
N. B. Toppings +4 more
doaj +1 more source
Síndrome de Wolfram. Informe de dos casos [PDF]
, 2015 The Wolfram´s syndrome is an inherited degenerative DIDMOAD neuroendocrine disorder characterized by the association of diabetes insipidus, diabetes mellitus onset youth, optic atrophy, sensorineural hearing loss and other disorders.
Muguercia Gonzáles, Yoidenis +2 more
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Endocrine and metabolic aspects of the Wolfram syndrome
, 2011 Wolfram syndrome (WS), also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness), is a neurodegenerative disease with autosomal recessive inheritance with incomplete penetrance.
Diamanti-Kandarakis, Evanthia +5 more
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, 2005 In 1938, Wolfram described a family in which four of eight siblings had diabetes mellitus and bilateral optic atrophy. Three of the four affected siblings subsequently developed neurosensory hearing loss and two developed neurogenic bladder.
Nancy J. Newman, MD
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ESPRESSIONE CLINICA DELLA SINDROME DI WOLFRAM IN UN’AMPIA CASISTICA SICILIANA
, 2013 OBIETTIVI La sindrome di Wolfram, descritta per la prima volta nel 1938, è meglio nota con l’acronimo DIDMOAD che racchiude le quattro manifestazioni cliniche peculiari: Diabete Insipido (DI), Diabete Mellito non autoimmune (DM), atrofia ottica (OA ...
B. AV Cama +7 more
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