The cherry‐red spot‐myoclonus syndrome

DOI Web Site Web Site 被引用文献5件

抄録

<jats:title>Abstract</jats:title><jats:p>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.</jats:p>

収録刊行物

被引用文献 (5)*注記

もっと見る

キーワード

詳細情報 詳細情報について

問題の指摘

ページトップへ