Yasuda Y, Dokoh S, Seko K, Imai T, Akiguchi I, Kameyama M
Neurology. 1986 May;36(5):687-92. doi: 10.1212/wnl.36.5.687.
We studied a family with autosomal dominant osteosclerosis associated with familial spinal canal stenosis. The propositus, a 44-year-old Japanese woman, had a 9-month history of occipitalgia and left tinnitus, and also had a 2-month history of pain and numbness of the right upper limb. Radiographic skeletal survey showed osteosclerotic changes in the neurocranium, diaphysis of the long bone, mandible, shoulder, clavicle, and ribs. Serum alkaline phosphatase was normal, and no periosteal excrescences were seen. The inheritance pattern was autosomal dominant. The propositus and her daughter, both with severe osteosclerosis, showed spinal canal stenosis, but her son, whose osteosclerosis was moderate, did not. This is the first report of autosomal dominant osteosclerosis associated with familial spinal canal stenosis.
我们研究了一个患有常染色体显性遗传性骨硬化症并伴有家族性椎管狭窄的家庭。先证者是一名44岁的日本女性，有9个月的枕部疼痛和左耳耳鸣病史，还有2个月的右上肢疼痛和麻木病史。骨骼X线检查显示，神经颅骨、长骨干骺端、下颌骨、肩部、锁骨和肋骨有骨硬化改变。血清碱性磷酸酶正常，未见骨膜增生。遗传模式为常染色体显性遗传。先证者及其女儿均患有严重骨硬化症，表现出椎管狭窄，但其儿子的骨硬化症为中度，未出现椎管狭窄。这是关于常染色体显性遗传性骨硬化症合并家族性椎管狭窄的首例报告。
