SCLEROSTEOSIS - REPORT OF A CASE IN A BLACK-AFRICAN MAN

Sclerosteosis is a rare genetic disorder of bone modelling, similar to , but distinct from, van Buchem disease; it has been described almost exclusively in Afrikaners of South Africa, a white population of Dutch ancestry. Isolated cases have been reported in a girl in Japan, a boy in Spain, and in multiracial families in Brazil and USA. Here we repo rt a case of sclerosteosis in a black man born in Senegal. He presente d with the full features of the disease: tall stature; syndactyly; nai l dysplasia; massive sclerosis of the long tubular bones, the ribs, th e pelvis and the skull; multiple cranial nerve involvement: optic atro phy, facial palsy and trigeminal neuralgia. Radiologic examination, vi sual and brainstem auditory evoked potentials, computerized tomography and magnetic resonance imaging of the skull were performed. This seem s to be the first case of the disease in a black African individual, w ith no known relationship with Dutch ancestry.