منابع مشابه
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches.
Over the last 15 years, important research has expanded our knowledge of the clinical, molecular genetic, and biochemical features of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). The characterization of mitochondrial involvement in this disorder and the seminal determination of its genetic cause, have opened new possibilities for more detailed and deeper studies on the pathome...
متن کاملA novel finding in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy): hypergonadotropic hypogonadism.
Address for correspondence: İsmail Hakkı Kalkan, MD, Attar Sokak 21/14, Gaziosmanpaşa/ Çankaya 06700, ankara, Turkey, Tel.: +90 505 270 40 85, e-mail: [email protected] Received 13-03-12, Revised 15-06-12, Accepted 02-07-12 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystem disorder caused by mutations in the gene encoding thymidine phos...
متن کاملMitochondrial neurogastrointestinal encephalomyopathy: imaging and clinical findings in three patients.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystemic autosomal recessive disorder characterized by ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy. We aimed to raise awareness in radiologists regarding this difficult-to-diagnose syndrome, which occurs in the presence of coexistent gastrointestinal dysmotility, cache...
متن کاملLeukoencephalopathy, cerebral calcifications, and cysts.
Association of leukoencephalopathy, cerebral calcifications, and cysts (LCC) is a rare disorder that was recently described. To our knowledge, only 2 reports, including 3 patients in each, have been published in the literature to date. Herein, we report a 19-year-old man with LCC who had neurological symptoms beginning in late adolescence. Clinically, he had rare convulsive seizures, slowly pro...
متن کاملAnesthetic Management of a Child with Mitochondrial Neurogastrointestinal Encephalopathy
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder associated with deficiency of thymidine phosphorylase (TP). Associated manifestations include visual and hearing impairments, peripheral neuropathies, leukoencephalopathy, and malnutrition from concomitant gastrointestinal dysmotility and pseudoobstruction. Given the altered metabolic state in these...
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ژورنال
عنوان ژورنال: Neurology
سال: 2002
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.58.12.1862