2 AUTOPSIED CASES OF FAMILIAL SUDANOPHILIC LEUKODYSTROPHY

Two autopsied female sibling cases of sudanophilic leukodystrophy are reported. Case A and case B were the second and third of seven sibling s, and a sister and a brother died from severe progressive neurologica l disease with similar symptoms. Consanguineous marriages were noted i n the family of both cases through the past three generations. Case A gradually developed intellectual deterioration and tetraplegia at the age of 29, progressed to akinetic mutism within one year and thereafte r survived for 14 years. Neuropathologically, a severe atrophy and deg eneration were noted in the white matter of the whole cerebrum, sparin g the subcortical U-fibers. Myelin and axons were severely damaged wit h peripheral astrocytic gliosis. Case B developed similar clinical sym ptoms at the age of 20 and survived for 7 years in the state of akinet ic mutism. Similar postmortem findings as those of case A were found i n the white matter of the cerebrum with formation of sudanophilic brea kdown products and with thick fibrillary gliosis. The pyramidal tract was completely degenerated. There was no accumulation of abnormal Lipi d in the brains of both cases.