Wolfram syndrome.
نویسندگان
چکیده
Wolfram syndrome is a rare neurodegenerative and genetic disorder, which should be suspected in patients with young onset non-immune insulin dependent diabetes mellitus and optic atrophy. Patients are most likely to develop diabetes insipidus, deafness, urinary tract, and neurological abnormalities. 60% of the people with Wolfram syndrome die at age 35, usually due to central respiratory center failure following brain stem atrophy. Though there is no treatment to reverse the underlying mechanism of neurodegeneration, early diagnosis and adequate hormonal replacement could improve quality of life and survival.
منابع مشابه
Repetitive Suicidal Behaviors in a Case With a New Mutation of Wolfram Syndrome: A Jump From the Gene to the Behavior
Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disease with variable symptoms, including neuropsychiatric manifestations. A 26-year-old man was reported with classic symptoms of WS and repetitive psychiatric hospitalizations and at least 16 suicidal attempts. The genetic study demonstrated a novel homozygous stop-codon mutation on the WFS1 gene. This special type of mutat...
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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) and deafness (D). Neutropenia and thrombocytopenia are also present. We report a 7 month old girl with congenital macrocytic anemia a rare clin...
متن کاملA calcium-dependent protease as a potential therapeutic target for Wolfram syndrome.
Wolfram syndrome is a genetic disorder characterized by diabetes and neurodegeneration and considered as an endoplasmic reticulum (ER) disease. Despite the underlying importance of ER dysfunction in Wolfram syndrome and the identification of two causative genes, Wolfram syndrome 1 (WFS1) and Wolfram syndrome 2 (WFS2), a molecular mechanism linking the ER to death of neurons and β cells has not ...
متن کاملسندرم Wolfram
Wolfram (DÏDMÔÂD) Synd usually presents with diabetes mellitus & following that optic atrophy usually happens. Ïn this report we present a case about 23 years old age that has presented with diabetes mellitus since age of 9 Y/Ô.
متن کاملAssociation of Wolfram syndrome with Fallot tetralogy in a girl.
Wolfram syndrome (DIDMOAD: diabetes insipidus, diabetes mellitus, optic atrophy and deafness) is a rare neurodegenerative disorder. Mutations of the WFS1 (wolframin) on chromosome 4 are responsible for the clinical manifestations in majority of patients with Wolfram syndrome. Wolfram syndrome is also accompanied by neurologic and psychiatric disorders, urodynamic abnormalities, restricted joint...
متن کاملWolfram syndrome presenting marked brain MR imaging abnormalities with few neurologic abnormalities.
Wolfram syndrome is a rare autosomal recessive disorder featuring diabetes insipidus, diabetes mellitus, optic atrophy, and deafness; DIDMOAD is a commonly accepted anonym for this disorder. We describe a 35-year-old man with Wolfram syndrome, who had marked atrophy of the brain stem, middle cerebellar peduncle, and cerebellum. Despite these MR imaging findings involving the pontocerebellar tra...
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ورودعنوان ژورنال:
- The Journal of the Association of Physicians of India
دوره 56 شماره
صفحات -
تاریخ انتشار 1978