Mitochondrial neuro-gastrointestinal encephalopathy syndrome.
Indian J Pediatr
;
2006 Dec; 73(12): 1112-4
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Recto
/
Síndrome
/
Biopsia
/
Seudoobstrucción Intestinal
/
Humanos
/
Masculino
/
Microscopía Electrónica
/
Niño
/
Encefalomiopatías Mitocondriales
/
Enfermedades del Sistema Nervioso Periférico
Tipo de estudio:
Estudio diagnóstico
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
2006
Tipo del documento:
Artículo
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