期刊
GASTROENTEROLOGIE CLINIQUE ET BIOLOGIQUE
卷 29, 期 8-9, 页码 773-778出版社
MASSON EDITEUR
DOI: 10.1016/S0399-8320(05)86346-8
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We report 3 new cases of Mitochondrial-Neuro-Gostro-Intestinal Encephalomyopathy (MNGIE) (or Pseudo-Obstruction-Leukoencepkalopathy-Intestinal-Pseudoobstruction Syndrome [POLIP]), a rare disease that associates chronic intestinal pseudo-obstruction (CIPO) and neurological symptoms. A review of the 72 reported cases together with these 3 cases revealed that this condition was associated with (a) a specific cluster of neuroloical symptoms including leukoencepkalopathy (96%), polyneuropathy (96%), ophthalmoplegia (91%) and hearing loss (55%); (b) a CIPO syndrome with the presence of small bowel diverticulae (53%); and (c) mitochondrial cytopatky in 36 of the 37 tested patients (2 of our 3 cases), and thymidine phosphorylase gene mutations in all the 37 tested patients (2 of our cases). The etiology of POLIP/MNGIE syndrome appears therefore to be due to a mitochondrial cytopathy secondary to thymidine phosphorylase gene mutation(s). In 3 cases, including 2 Your 3 patients, mitochondrial abnormalities were evidenced at the ultrastructural level in digestive smooth muscle demonstrating that the pathogenesis of gastrointestinal involvement was directly related to mitochondrial alterations in digestive smooth muscle cells.
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