Mitochondrial neuro-gastrointestinal encephalopathy syndrome.
Indian J Pediatr
;
2006 Dec; 73(12): 1112-4
Article
Dans Anglais
| IMSEAR
| ID: sea-83279
ABSTRACT
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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Rectum
/
Syndrome
/
Biopsie
/
Pseudo-obstruction intestinale
/
Humains
/
Mâle
/
Microscopie électronique
/
Enfant
/
Encéphalomyopathies mitochondriales
/
Neuropathies périphériques
Type d'étude:
Etude diagnostique
langue:
Anglais
Texte intégral:
Indian J Pediatr
Année:
2006
Type:
Article
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