The cherry‐red spot‐myoclonus syndrome

Abstract

Three young women, 2 of them sisters, were found to have cherry‐red spots at the macula when they were children. In 1 patient the spots faded before she was 20 years old. In all 3, incapacitating myoclonus and insidious visual loss developed in adolescence. Their intellect is normal and they have no gargoyle‐like features. A variety of lysosomal inclusions were noted in cortical neurons in a biopsy specimen taken from 1 patient in childhood. Liver biopsy fifteen years later revealed mucopolysaccharide‐like inclusions in Kupffer cells and hepatocytes. Lipofuscin bodies were abundant in neurons and hepatocytes. The patients excrete sialic acid‐containing oligosaccharides not present in normal urine, suggesting a defect in degradation of glycoproteins. The specific enzymatic defect in these patients appears to be a deficiency of lysosomal neuraminidase.