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Autosomal dominant osteosclerosis associated with familial spinal canal stenosis

Departments of Neurology (Drs. Yasuda, Seko, and Imai) and Radiology (Dr. Dokoh), Kyoto City Hospital; and the Department of Neurology (Drs. Akiguchi and Kameyama), Faculty of Medicine, Kyoto University. Kyoto, Japan.

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.

Address correspondence and reprint requests to Dr. Yasuda, Department of Neurology, Kyoto City Hospital, Higashi-Takadacho Mibu Nakagyoku, Kyoto 604, Japan.

Accepted for publication September 3O, 1985.