KOHLSCHUTTER-TONZ SYNDROME - EPILEPSY, DEMENTIA, AND AMELOGENESIS-IMPERFECTA

Kohlschutter-Tonz syndrome is a central nervous system (CNS) degenerat ive disease with convulsions and mental regression in which the affect ed children present with yellow teeth due to defective enamel. We pres ent a family in which 2 affected children (a boy and a girl) were born to consanguineous parents. This report confirms the autosomal recessi ve inheritance of the disorder. The combination of a CNS and an enamel defect may represent pleiotropy or a contiguous gene syndrome.