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 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.
Walia
Anuj
A
Department of Pediatric Gastroenterology, Hepatology and Nutrition, Postgraduate Institute of Medical Education and Research,Chandigarh, India.
Thapa
B R
BR
Kim
V
V
D001706:Biopsy; D002648:Child; D003937:Diagnosis, Differential; D005767:Gastrointestinal Diseases / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000150:complications; D019344:Lactic Acid / Q000097:blood; D008297:Male; D008854:Microscopy, Electron; D017237:Mitochondrial Encephalomyopathies / Q000150:complications* / Q000175:diagnosis*; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000175:diagnosis*; D012007:Rectum / Q000473:pathology; D013577:Syndrome
D019344:Lactic Acid