The neurologic manifestations of osteopetrosis (Albers‐Schönberg's disease)

Abstract

The clinical findings in 6 persons with osteopetrosis who had evidence of central nervous system dysfunction are presented. The numerous neurologic manifestations of this disease are reviewed. Neuro-ophthalmologic features include optic atrophy, nystagmus, papilledema, exophthalmos, and impairment of extra-ocular motiiity. Facila paralysis and deafness are frequently encountered. Trigeminal nerve lesions and anosmia are sometimes present. It would appear that the glossopharyngeal, vagus, spinal accessory, and hypoglossal nerves are not involved in this disorder. Macrocephaly, often due to hydro-cephalus, is common in children with osteopetrosis. Headache may be a prominent feature, and convulsions may occur. Although most persons with osteopetrosis manifest a normal intelligence, some individuals have variable degrees of mental retardation. The lumbar cerebrospinal fluid pressure may be elevated and a slight pleocytosis is sometimes encountered.