Macular Cherry-red Spotsを伴なったJuvenile Neuronal Storage Disease（Sialidosis）—Sialidase欠損とβ-galactosidase欠損についての検討

Juvenile neuronal storage disease with macular cherry-red spots (sialidosis)—Sialidase deficiency with or without beta-galactosidase deficiency.

I．まえがき

　1881年Tayがcerebromacular degenerationの症例を発表して以来，同様の症状を有する症例の臨床および病理学的研究がなされてきた^1）。

　最近では脂質代謝異常のうちでも乳幼児期に発症する症例では沈着物質や欠損酵素が明らかになってきたが，若年発症や成人発症の例では生化学的異常はまだ充分には解明されていない^1〜4）。

　Three patients had an illness characterized byjuvenile onset, macular cherry-red spots, myoclonus, generalized convulsion and cerebellar ataxia. Case 3 had dementia, gargoyle features, bone deformity, vacuolated lymphocytes in peripheral blood and foam cell in bone marrow (juvenile cherry-red spots-dementia syndrome), while cases 1 and 2 had neither of them (juvenile cherry-red spots-nondementia syndrome). Specimens from the rectum and vermiform appendix showed Sudan black B- and PAS-positive granules within the neuron of myenteric plexus.