Two sisters with juvenile metachromatic leukodystrophy are described. The patients were 17 and 20 years old. The younger sister died and an autopsy was performed. The elder sister keeps alive. A sural nerve biopsy of both cases revealed an accumulation of metachromatic lipid granules in the Schwann cells and macrophages. The autopsy also disclosed these granules especially in the brain, gallbladder, kidney and pancreas. A lipid analysis of the cerebral white matter showed sulfatide accumulation that was 1.5 times that of controls. Histochemically, the accumulated lipid was different in the brain from that in other organs. An electron microscopic examination of the accumulated metachromatic lipid granules showed various structures such as concentric lamellar, tuffstone, herringbone and hexagonal honeycomb appearances, and some ultrastructural differences between the nervous system and other organs.
Adolescent Adult