透明中隔嚢胞を合併したMarfan症候群の1例

A Case of Marfan Syndrome with Cyst of Septum Pellucidum

■はじめに

　Marfan症候群は常染色体優性の遺伝形式で中胚葉系先天異常を伴う症候群で，高身長，長四肢，クモ状指，関節の過伸展，水晶体亜脱臼や近視など眼科的異常，高口蓋，大動脈根部の拡大，僧帽弁逸脱，側彎症・後彎症・偏平胸・漏斗胸といった脊柱変形などの異常を示す。またGilles de la Tourette症候群との合併，染色体異常の合併，過呼吸発作・四肢麻痺・構音障害など多彩な精神・神経症状を呈す報告など精神・神経疾患との関連も考えられる。我々は頭痛ならびに頭重感を主訴として診療各科を転々としていた，透明中隔嚢胞を合併し特異な臨床例と考えられたMarfan症候群の18歳男性例を報告する。

　We report an 18-year-old male case of Marfan syndrome associated with a cyst of the septum pellucidum. He visited us with complaints of headache and headheaviness. He was 180 cm tall and his arm span was 183 cm larger than his height. He presented arachnodactyloid (spider's fingers), funnel chest and moderate disturbance in his visual activity. He had a family history of great height, with a father, three uncles, an aunt and a brother each over 180 cm tall. The data from the laboratory examination including EEG and chromosome analysis were all normal. Computed tomography examination showed a cyst of the septum pellucidum in his brain. The world literature contains reports of Marfan syndrome associated with Gilles de la Tourette syndrome, schizophrenic symptoms, hyperventilation syndrome and schizophrenia. However we found only one case of Marfan syndrome associated with a cyst of the septum pellucidum, so we think our case is very rare and discuss the relation between Marfan syndrome, a cyst of the septum pellucidum and psychotic symptoms.