Infantile Metachromatic Leukodystrophy

Infantile metachromatic leukodystrophy was diagnosed in utero by the absence of arylsulfatase A in cultured amniotic-fluid cells. The diagnosis was confirmed since enzyme activity was not demonstrable in cultured fetal skin fibroblasts, liver, or brain, and since characteristic histologic metachromatic deposits were present in kidney. Electron microscopy showed abnormal cytoplasmic membrane-bound inclusions, composed in part of stacked lamellar structures, in renal tubular cells and in Schwann and endoneurial cells of the sciatic nerve. Intrauterine diagnosis of metachromatic leukodystrophy is thus a potentially valuable method. (N Engl J Med 288:1365–1369, 1973)