79 - van buchem's syndrome

Van Buchem's disease is a rare pathology with recessive transmission and variable expressivity characterised by a progressive cortical bone deposition. There are two types of this disease: Type I (Van Buchem's disease) progressive form for all life and with high level of PA (alkaline phosphate); Type II (Worth disease) the pathologic bone deposition stops at 20 years of age and the level of PA in the adult is normal. The most important histological feature is the bone hypertrophy with preservation of the lamellar frame. The bones interested are: skull vault, mandible, ribs, clavicle and diaphyseal portion of long bones. The first clinical manifestation became evident in childhood with progressive course. The narrowing of the cranial foramen is responsible of the progressive cranial nerves compression and the subsequent neurological signs. The disease is incurable; surgical treatment aims to reduce the intracranial pressure and to correct bones deformity. A clinical case in which the patient treated has esthetic problems but not neurological signs is presented.