Chitayat D, Applegarth D A, Lewis J, Dimmick J E, McCormick A Q, Hall J G
Department of Medical Genetics, Grace Hospital, Vancouver, British Columbia, Canada.
Am J Med Genet. 1988 Dec;31(4):887-901. doi: 10.1002/ajmg.1320310423.
We describe a 19-year-old white male with juvenile galactosialidosis. He presented with hip arthralgia and was found to have facial "coarseness," corneal clouding, mitral and aortic insufficiency, and hepatosplenomegaly. Ultrastructural studies of skin biopsy and peripheral blood lymphocytes showed membrane-bound inclusions containing sparse fibrillogranular material. Biochemical analysis showed elevated urinary sialyloligosaccharides and no free sialic acid. Fibroblast enzyme analysis showed low activities of both alpha-neuraminidase and beta-galactosidase. To date, most patients with juvenile galactosialidosis have been Japanese. However, unlike those patients, our patient did not have macular cherry-red spots, neurologic abnormalities, or mental retardation. We speculate that this young man represents a new subtype of juvenile galactosialidosis with a potentially different molecular defect from that of the Japanese variant.
我们描述了一名患有青少年型半乳糖唾液酸贮积症的19岁白人男性。他因髋关节疼痛就诊，被发现有面部“粗糙”、角膜混浊、二尖瓣和主动脉瓣关闭不全以及肝脾肿大。皮肤活检和外周血淋巴细胞的超微结构研究显示，膜结合包涵体中含有稀疏的纤维颗粒物质。生化分析显示尿唾液酸寡糖升高且无游离唾液酸。成纤维细胞酶分析显示α-神经氨酸酶和β-半乳糖苷酶的活性均较低。迄今为止，大多数青少年型半乳糖唾液酸贮积症患者为日本人。然而，与那些患者不同，我们的患者没有黄斑樱桃红斑、神经异常或智力迟钝。我们推测，这名年轻人代表了青少年型半乳糖唾液酸贮积症的一种新亚型，其分子缺陷可能与日本变种不同。
