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Sclerosteosis

Nemogenetic and pathophysiologic analysis of an American kinship

Genetics and Biochemistry Branch. National Institute of Arthritis, Diabetes, Digestive, and Kidney Diseases (Dr. Stein); the Division of Radiology (Dr. Hilll. Office of the Director (Ms. Sandra Schlesingert. the Clinical Center; the Section of Surgical Neurology (Dr. McKeever), National Institute of Neurological and Communicative Disorders; National Institute of Health, Bethesda, MD; the Departments of Neurology (Dr. Stein), Neurosurgery (Drs. Long. Gucer, and Viernstein), Radiology (Ur. Altman), and Ophthalmology tDr. Miller), the Johns Hopkins Hospital, Baltimore, MD; the Department of Oral Pathology and Genetics, the University of Mlnnesuta School of Dentistry (Dr. Witkop), Minneapolis, MN; and the Department of Pathology, Division of Bone and Mineral Metabolism (Drs. Fallon and Teitelbaum). Washington University School of Medicine, St. Louis, MO.

We studied an American kinship with sclerosteosis, an autosomal-recessive disorder of bone remodeling and bone overgrowth of the calvaria, skull base, and tubular bones. Unlike osteopetrosis, which is attributed to abnormal immune and osteoclast function as well as bone resorption, sclcrosteosis appears to be primarily a disorder of osteoblast (bone formation) hyperactivity. Related to cranial vascular and neural foramina1 narrowing and reduced intracranial volume, affected patients with sclerosteosis demonstrate frequent seventh nerve palsy, progressive optic and cranial neuropathics, mixed hearing loss, brainstem compression, intracranial hypertension with increased elastance, and sudden, premature death. Management should involve early childhood identification of homozygotes, monitoring and aggressive treatment of intracranial hypertension, and extensive bone removal from skull, posterior fossa, and cervical spine.

Address correspondence and reprint requests to Dr. Stein. Building 10, Room 9D-06, NIADDK, NIH, 9000 Rockville Pike, Bethesda, MD 20205.

This work was supported by protocols of the NIADDK and the National Institute of Dental Research and NIH grants Nos. GM 22167. NS5 2332, and DE 05413.

Accepted for publication July 7, 1982.

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