NEUROLOGICAL INVOLVEMENT IN WORTH TYPE ENDOSTEAL HYPEROSTOSIS - REPORT OF A FAMILY

We present the first Australian family known with autosomal dominant e ndosteal hyperostosis affecting a mother and her 2 children. Neurologi cal involvement comprising chronic intracranial hypertension and crani al nerve palsies were found in the mother; computerised tomography and magnetic resonance imaging of the head demonstrated symmetrical scler osis of the cranial vault, narrow internal auditory meati and canals, inferior herniation of the cerebellar tonsils into the foramen magnum, and encroachment of occipital bone into the foramen magnum posteriorl y. This is the fifth report of significant neurologic involvement in t his condition and supports the view that severe forms of endosteal hyp erostosis are not confined to the autosomal recessive variant, as indi viduals with the autosomal dominant form may also show progression wit h neurological involvement in adulthood. (C) 1994 Wiley-Liss, Inc.