Progression of bilateral striopallidal calcinosis and parkinsonism in a case of gorlin syndrome.

摘要

Gorlin syndrome1 is a rare autosomal dominant inherited phacomatosis with an estimated prevalence of 1 in 57,000 to 1 in 164,000. But nearly 50% of all cases are new mutations. Typical findings in Gorlin syndrome include basal cell carcinomas, odontogenic keratocysts, palmar and plantar pits, and calcification of the falx cerebri.2 Intracranial calcification of the tentorium cerebelli, petroclinoid ligaments, dura, pia, choroids plexus and basal ganglia have been described. However these cases did not show associated clinical symptoms. We report a case of Gorlin syndrome with bilateral striopallidal calcinosis and progressive parkinsonism.