Connatal Pelizaeus-Merzbacher disease in two girls.
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.
Ziereisen
F
F
Department of Radiology, Hôpital Universitaire des Enfants Reine Fabiola, Brussels, Belgium.
Dan
B
B
Christiaens
F
F
Deltenre
P
P
Boutemy
R
R
Christophe
C
C
D003937:Diagnosis, Differential; D004569:Electroencephalography; D005071:Evoked Potentials; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D020371:Pelizaeus-Merzbacher Disease / Q000175:diagnosis* / Q000235:genetics*; D014960:X Chromosome