Angiokeratoma corporis diffusum is a dermatological hallmark of several inherited lysosomal storage disorders including Anderson-Fabry disease and other enzyme deficiencies such as fucosidosis. We report a 4-year-old ...Angiokeratoma corporis diffusum is a dermatological hallmark of several inherited lysosomal storage disorders including Anderson-Fabry disease and other enzyme deficiencies such as fucosidosis. We report a 4-year-old boy with neurodevelopment delay who was diagnosed as having fucosidosis following recognition of dermatological signs, angiokeratoma and telangiectasies. The diagnosis was confirmed by leukocyte oligosaccharide enzyme analysis.展开更多
文摘Angiokeratoma corporis diffusum is a dermatological hallmark of several inherited lysosomal storage disorders including Anderson-Fabry disease and other enzyme deficiencies such as fucosidosis. We report a 4-year-old boy with neurodevelopment delay who was diagnosed as having fucosidosis following recognition of dermatological signs, angiokeratoma and telangiectasies. The diagnosis was confirmed by leukocyte oligosaccharide enzyme analysis.
