Nakano R, Wakamatsu N, Tsuji S, Matsumura G, Miyatake T
Rinsho Shinkeigaku. 1989 Aug;29(8):1032-8.
A case of juvenile Sandhoff disease with Gowers' local panatrophy was reported. A mentally retarded 39 year-old man had been noticed to have localized skin atrophy on the right leg since 7 years of age, and was also aware of the atrophy of his right leg since his junior high school age. His parents were first cousins. He had multiple localized atrophic skin lesions on the right side of his nape, the right side of lower back, and the right thigh. These skin lesions did not show any signs of sclerosis. Although he was mentally retarded (IQ=44), the neurological examination was normal including funduscopy. Histological examination of the atrophic skin le led that the epidermal basal layer was hyperpigmented and that the dermis and subcutaneous fatty tissue were extremely atrophic. The nerves meandered across the dermis and subcutaneous tissue, and had membranous lipid storage cytosomes in the axon and Schwann cells. Biochemical studies revealed marked deficiency fo leukocyte hexosaminidase activity. Total hexosaminidase activity was decreased to 18% of normal controls, and hexosaminidase B activity was completely deficient. Other lysosomal enzymes in leukocytes were normal in activities. Both parent showed intermediate levels of leukocyte hexosaminidase A and B activities. Electron microscopy analysis of a rectal biopsy specimen showed neuronal accumulation of dense osmophilic deposits, as well as membranous cytoplasmic bodies in Meissner's plexus. On the basis of the patient's age at onset and the above findings, the patient was diagnosed to have juvenile Sandhoff disease. The local panatrophy observed in the present case could be the result of the accumulation of GM2-ganglioside in autonomic nervous system, and may well be a new clinical feature of GM2-gangliosidosis.
报告了一例患有高尔斯局部全身萎缩的青少年桑德霍夫病病例。一名39岁智力发育迟缓的男子自7岁起右腿出现局限性皮肤萎缩，初中时就已意识到右腿萎缩。他的父母是近亲。他在右颈部、右腰下部和右大腿右侧有多处局限性萎缩性皮肤病变。这些皮肤病变未显示任何硬化迹象。尽管他智力发育迟缓（智商=44），但包括眼底检查在内的神经系统检查正常。萎缩皮肤的组织学检查显示表皮基底层色素沉着过度，真皮和皮下脂肪组织极度萎缩。神经蜿蜒穿过真皮和皮下组织，轴突和施万细胞中有膜性脂质储存胞质小体。生化研究显示白细胞己糖胺酶活性明显缺乏。总己糖胺酶活性降至正常对照的18%，己糖胺酶B活性完全缺乏。白细胞中的其他溶酶体酶活性正常。父母双方白细胞己糖胺酶A和B活性均处于中等水平。直肠活检标本的电子显微镜分析显示神经元中有致密嗜锇沉积物的积聚，以及梅斯纳丛中的膜性细胞质体。根据患者的发病年龄和上述发现，该患者被诊断为青少年桑德霍夫病。本病例中观察到的局部全身萎缩可能是GM2神经节苷脂在自主神经系统中积聚的结果，很可能是GM2神经节苷脂沉积症的一种新的临床特征。
