Mitochondrial neurogastrointestinal encephalomyopathy: imaging and clinical findings in three patients
| Autor: | Gökçen Çoban, Savaş Göktürk, Erkan Yıldırım, Zuhal Çalışkan, Bahriye Horasanlı, Hatice Aysun Akça |
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| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: | |
| Zdroj: | Diagnostic and Interventional Radiology, Vol 19, Iss 3, Pp 191-194 (2013) |
| Druh dokumentu: | article |
| ISSN: | 1305-3825 1305-3612 |
| DOI: | 10.5152/dir.2013.008 |
| Popis: | 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, cachexia, and neurologic manifestations. We report imaging and clinical findings of three patients with MNGIE. Our findings indicate that early diagnosis of the disease, together with the timely treatment of acute intercurrent illnesses, may retard the progression of MNGIE. |
| Databáze: | Directory of Open Access Journals |
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