par Ziereisen, France 
;Dan, Bernard ;Christiaens, Florence ;Deltenre, Paul ;Boutemy, Rachel ;Christophe, Catherine
Référence Pediatric radiology, 30, 7, page (435-438)
Publication Publié, 2000-07
;Dan, Bernard ;Christiaens, Florence ;Deltenre, Paul ;Boutemy, Rachel ;Christophe, Catherine Référence Pediatric radiology, 30, 7, page (435-438)
Publication Publié, 2000-07
Article révisé par les pairs
| Résumé : | We report the clinical, radiological and electrophysiological signs in two unrelated girls with the connatal form of Pelizaeus-Merzbacher disease (PMD). MRI plays an important role in the diagnosis, demonstrating the virtual absence of myelination. PMD is classically described as an X-linked leukodystrophy. Our two cases reinforce the hypothesis of a possible autosomal recessive transmission of the connatal form of PMD in some families, as recently presented. |
