Congenital hypomyelinating neuropathy.
Indian Pediatr
;
2003 Nov; 40(11): 1084-7
Article
Dans Anglais
| IMSEAR
| ID: sea-11584
ABSTRACT
An eleven-month-old baby born out of non-consanguineous parentage presented with history of delayed motor milestones. The weakness was predominantly distal; there was intercostal muscle weakness, generalized hypotonia and areflexia. The nerve conduction velocities were unobtainable in all the four limbs. Sural nerve biopsy was consistent with the diagnosis of congenital hypomyelinating neuropathy, a rare form of hereditary motosensory neuropathy.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Pronostic
/
Ponction-biopsie à l'aiguille
/
Indice de gravité de la maladie
/
Femelle
/
Humains
/
Prednisolone
/
Immunohistochimie
/
Neuropathie héréditaire motrice et sensitive
/
Techniques de physiothérapie
/
Résultat thérapeutique
Type d'étude:
Étude pronostique
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Indian Pediatr
Année:
2003
Type:
Article
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