F. Goutieres et al., LEUKOENCEPHALOPATHY, MEGALENCEPHALY, AND MILD CLINICAL COURSE - A RECENTLY INDIVIDUALIZED FAMILIAL LEUKODYSTROPHY - REPORT ON 5 NEW CASES, Journal of child neurology, 11(6), 1996, pp. 439-444
Five children presented in the first months of life with progressive m
egalencephaly and leukodystrophy characterized by diffuse swelling of
the white matter, cystic cavitations in frontal and temporal lobes, an
d a slow progressive course contrasting with the intensity of the leuk
odystrophic process. Four had epilepsy. Two were brothers and three ha
d consanguineous parents. No metabolic defect was detected. The clinic
al and magnetic resonance imaging features are similar to those of pat
ients previously reported. These five new cases add arguments to delin
eate a new type of leukodystrophy with megalencephaly in infancy and a
utosomal recessive inheritance.