幻視，被害妄想，脳内石灰化を呈し家族性Fahr病が疑われた若年女性の1例

A Probable Diagnosis of Fahr Disease in a Young Woman with Visual Hallucination, Delusion of Injury, and Brain Calcinosis: A case report

抄録

　幻視，被害妄想，気分の易変性，易怒性，精神遅滞などを呈しFahr病が疑われた若年女性とその3世代の症例について報告する。本人の頭部CT検査により，両側大脳基底核に石灰化を認めた。同様に，親族5名に頭部CT検査を施行したところ，祖母と母に両側大脳基底核の石灰化を認めた。本症例では母を含め3姉妹，本人と弟が精神遅滞であり，本人と弟が視力障害を持っており，遺伝性疾患が疑われた。副甲状腺機能は正常でCaの代謝障害はなく，他の生化学的異常やミトコンドリア病，代謝性疾患その他の身体疾患による体の異常がなく，Fahr病が考えられた。本邦でのFahr病の先行研究としては3世代にわたる報告はなく，現在のところ本報告が初めてである。

　We report the cases of a young woman with visual hallucinations, delusion of injury, emotional lability, irritability, and mental retardation, along with the cases of members of her 3 generations. The probable diagnosis of these cases was Fahr disease. A computed tomography (CT) scan of her brain and the scans of 5 of her relatives revealed bilateral symmetrical calcifications in the basal ganglia. Mental retardation was noted in our patient, her elder brother, mother, and 2 of her aunts, and eye impairment was noted in our patient and her elder brother;hence, an inheritable disease was suspected. The young woman had normal parathyroid function and serum calcium level. Further, no biochemical abnormalities, mitochondrial or metabolic diseases, or other systemic disorders were observed. On the basis of the abovementioned findings, Fahr disease was confirmed as the diagnosis. In Japan, this is the first case report of Fahr disease affecting members of 3 generations.