[P3-77] Idiopathic Basal Ganglia Calcification with Paroxysmal Kinesigenic Dyskinesia in a 11-year-old girl
[Introduction] Idiopathic basal ganglia calcification (IBGC), previously called Fahr disease, is characterized by unexplained symmetrical calcification in the basal ganglia. Recently, familial IBGC with SLG20A2 or PDGFRB mutation were reported. IBGC shows various symptoms such as cognitive disorders, psychiatric disorders, and movement disorders. The onset is usually after adolescence, and asymptomatic patient who was incidentally found in head CT also exists. We report a child case with IBGC presented paroxysmal kinesigenic dyskinesia (PKD). [Case] A 11-year-old girl has recognized muscle stiffness and brief operation stop at the beginning of sudden movement since one year ago. No obvious deterioration was observed for one year. Based on clinical findings, she diagnosed as PKD. Head CT showed multiple symmetrical calcifications o in basal ganglia, thalamus, frontal to parietal lobe white matter. After extensive studies for basal ganglia calcification, we ruled out metabolic abnormalities, degenerative diseases and congenital diseases, and diagnosed her as IBGC. [Discussion] Although this patient has extensive calcifications, she has no symptoms such as parkinsonism or cognitive problems. There are differences from other degenerative diseases affecting basal ganglia and cerebral cortex in facts that only non-progressive paroxysmal symptom has been observed in this patient. PKD was reported in sporadic cases of IBGC, whereas IBGC was reported in sporadic PKD. Thus, IBGC with PKD could have a distinct clinical entity which is different from familial IBGC or familial PKD. We will continue to follow carefully the transition of symptoms and images.