Abstract
Mitochondrial Neuro Gastrointestinal Encephalopathy (MNGIE) is rare genetic disorer. It is characteristic by progressive gastrointestinal dysmotility, cachexia, opthalmoplegia and leucoencephalopathy.We hereby report a case of MNGIE in a female.
Highlights
Mitochondrial Neuro Gastrointestinal Encephalopathy (MNGIE) is rare genetic disorer
Dysmotility of gastrointestinal tract seen in majority of cases in MNGIE,is a condition in which there is a difficulty in passage of food due Generally patient diagnosed with MNGIE can have loss of appetite, loose weight, ptosis, ophthalmoplegia, auditory impairment, Tingling
In MNGIE there is depletion of white matter of brain tissue which is the classical features of this syndrome, mostly less common (Leukoencephalopathy),Due to the autosomal recessive inheritance of TYMP gene in MNGIE which is a essential gene for maintaining proper level of mitochondrial thymidine [1,2]
Summary
A Department of Paediatrics, Sree Balaji Medical College and Hospital, Chrompet, Chennai-600044, India. This work was carried out in collaboration among all authors. All authors read and approved the final manuscript. Open Peer Review History: This journal follows the Advanced Open Peer Review policy. Identity of the Reviewers, Editor(s) and additional Reviewers, peer review comments, different versions of the manuscript, comments of the editors, etc are available here: https://www.sdiarticle5.com/review-history/78074
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