Mitochondrial neuro-gastrointestinal encephalopathy syndrome

Mitochondrial neurogastrointestinal encephalomyopathy is a rare disorder affecting the pediatric age group with a heterogeneous multisystem involvement. We happen to manage a young child with symptoms of constipation since infancy along with cachexia, seizures and peripheral neuropathy. The child la...

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Bibliographic Details
Published in:Indian journal of pediatrics 2006-12, Vol.73 (12), p.1112-1114
Main Authors: WALIA, Anuj, THAPA, B. R, KIM, V
Format: Article
Language:English
Subjects:
Biological and medical sciences
Biopsy
Child
Diagnosis, Differential
Gastrointestinal Diseases - complications
Gastrointestinal Diseases - diagnosis
General aspects
Humans
Intestinal Pseudo-Obstruction - complications
Lactic Acid - blood
Male
Medical sciences
Microscopy, Electron
Mitochondrial Encephalomyopathies - complications
Mitochondrial Encephalomyopathies - diagnosis
Peripheral Nervous System Diseases - complications
Peripheral Nervous System Diseases - diagnosis
Rectum - pathology
Syndrome
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Summary:Mitochondrial neurogastrointestinal encephalomyopathy is a rare disorder affecting the pediatric age group with a heterogeneous multisystem involvement. We happen to manage a young child with symptoms of constipation since infancy along with cachexia, seizures and peripheral neuropathy. The child later went into encephalopathy preterminally. This clinical syndrome fitted very well with mitochondrial neurogastrointestinal encephalomyopathy. The child had elevated lactate levels and electron microscopy of the rectal biopsy was suggestive of a mitochondrial disorder To the best of our knowledge there is no case report of this syndrome from India and since this presents with diagnostic difficulties so is being reported.
ISSN:0019-5456
0973-7693
DOI:10.1007/bf02763058