Clinical and Intestinal Ultrasound Findings in Mitochondrial Neurogastrointestinal Encephalomyopathy:Report of One Case.
10.3881/j.issn.1000-503X.16801
- Author:
Xiao-Yan ZHANG
1
;
Qing-Li ZHU
1
;
Ge-Chong RUAN
2
;
Wen-Bo LI
1
Author Information
1. Department of Ultrasound,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.
2. Department of Gastroenterology,PUMC Hospital,CAMS and PUMC,Beijing 100730,China.
- Publication Type:Case Reports
- Keywords:
intestinal ultrasound;
mitochondrial neurogastrointestinal encephalomyopathy;
mitochondrion
- MeSH:
Humans;
Mitochondrial Encephalomyopathies/diagnostic imaging*;
Ultrasonography;
Intestines/diagnostic imaging*;
Male;
Female;
Intestinal Pseudo-Obstruction/diagnostic imaging*;
Ophthalmoplegia/congenital*;
Muscular Dystrophy, Oculopharyngeal
- From:
Acta Academiae Medicinae Sinicae
2025;47(5):758-761
- CountryChina
- Language:English
-
Abstract:
Mitochondrial neurogastrointestinal encephalomyopathy(MNGIE),a rare mitochondrial disorder caused by TYMP gene mutations,is characterized by severe gastrointestinal dysmotility,peripheral neuropathy,and leukodystrophy.This article summarizes the clinical data and intestinal ultrasound findings of a MNGIE case,aiming to provide insights for clinical diagnosis and treatment.
