A Case of Congenital Fiber Type Disproportion with Multiple Anomalies / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 328-332, 2006.
Article
Dans Anglais
| WPRIM
| ID: wpr-163786
ABSTRACT
Congenital fiber type disproportion (CFTD) is a rare form of congenital myopathy characterized by the smallness and the marked predominance of type 1 fibers, which presents congenital hypotonia, delayed motor milestones, joint contractures, and skeletal deformities. The muscle biopsy reveals the type 1 fibers are more than 12% smaller than the type 2 fibers in size. We describe a 24-month-old boy who presented muscle hypotonia, delayed motor milestones, mental retardation with generalized tonic clonic seizures, and the muscle pathologic findings of CFTD. Additional findings included left cryptorchidism, congenital subluxation of the hip, contractures of ankle joints, diffuse brain atrophy, and optic nerve atrophy. We should consider CFTD as a differential diagnosis of early onset myopathy.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Nerf optique
/
Atrophie
/
Crises épileptiques
/
Malformations
/
Biopsie
/
Encéphale
/
Contracture
/
Myopathies congénitales structurales
/
Cryptorchidie
/
Diagnostic différentiel
Type d'étude:
Etude diagnostique
Limites du sujet:
Enfant d'âge préscolaire
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Journal of the Korean Child Neurology Society
Année:
2006
Type:
Article
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