Late diagnosis of Wilson's disease more than 10 years after the initial neuropsychiatric symptoms in two cases
S László, D Németh, A Krolopp, A Folhoffer, F Szalay · Zeitschrift für Gastroenterologie · 2015 · Heft 05
Bibliografische Angaben
Zusammenfassung
Introduction: Wilson's disease (WD) is a rare autosomal recessive disease caused by the toxic accumulation of copper due to ATP7B gene mutations. Neurological symptoms develop in about half of the patients. We present two cases of WD diagnosed only more than 10 years after onset of neurological/psychiatric symptoms. Case report: In the 25-year-old male patient thalamotomy was performed because of head and hand tremor thought to be consequence of a 3 year earlier car accident. The symptoms worsened, gait disorder and partial spastic hemiparesis developed. Head MRI was negative. WD was diagnosed only 12 years late…