Familial orthochromatic leukodystrophy: clinicopathological study of two cases.

This paper reports the clinico-pathological data in a French family with or thochromatic leukodystrophy. The parents were first cousins and had seven c hildren. Among those, two sisters and one brother presented with neurologic al signs, with onset around the 5(th) decade, including a dementing syndrom e of frontal type, a tetrapyramidal syndrome, seizures, and, in one sibling , a cerebellar syndrome. GT scan or MRI showed diffuse involvement of the w hite matter The neurological signs worsened progressively leading to death within II and 22 months. Neuropathological examination was performed in two cases. It revealed characteristic orthochromatic leukodystrophy. In one ca se, the presence of pigmented macrophages and astrocytes was suggestive of Van Bogaert and Nyssen disease. However there were some atypical features i ncluding the absence of pigmented cells in the second case whose clinical c ourse was shorter, and the cavitary appearance of the white matter changes with a relative increase in the number of oligodendrocytes raising the issu e of a possible link between this condition and cavitary orthochromatic leu kodystrophies.