2 March 1998
Dear collegues, We are treating a family with three male members (brothers in school age), who share the same clinical picture: mild hepatopathy (elevated transaminases, histology of very mild unspecific "hepatitis"), marked osteoporosis with multiple fractures (all biochemical parameters of bone and collagen metabolism are normal). All the diagnostic work-up has been done without any evidence for a metabolic, infectious or toxic etiology. We think about a genetic background but we are not able to recognize any suitable known disease. Therefore, we should like to ask this forum, whether anyone has an idea of a possible disease or a suggestion for further diagnostic procedures.
Thank you for your help!