先天性無痛無汗症の長期観察例

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The patient, who is a 21-year-old female now, was diagnosed as hereditary sensory autonomic neuropathy type IV at the age of 5. She suffered a total of 12 fractures between the age of 3 and 11, 10 times in her legs and twice in her arms. No fractures have occurred since then, however. The femoral fractures were operated on, and conservative treatment was used for the other fractures. She has bilateral Charcot's hip joints, valgus deformity in both lower leg, bilateral flat talus and calcaneus, left cubital tunnel syndrome due to cubitus valgus, and right lunatomalacia. She can walk with crutches during physiotherapy, but has customarily been using a wheelchair since the age of 5 to prevent fractures, dislocations, and osteoarthrosis. Her severe obesity also decreases her walking ability. The results of a developmental test administered at the age of 6 showed mild mental retardation. She at tended a primary, junior high, and high school for disabled children. After graduation, she has been engaged in light work. She shows moderate mental retardation now. Her remarkable hyperkinesia in early childhood led to fractures and delayed union. But this has gradually decreased since puberty, and constitutes no problem now.
社団法人日本リハビリテーション医学会の論文
2001-06-18