Rebound Nystagmusを認めたMarinesco-Sjögren症候群—脊髄小脳変性症のまれな一型

THE MARINESCO-SJÖREN SYNDROME WITH REBOUND NYSTAGMUS: A RARE TYPE OF CEREBELLO-SPINAL DEGENERATION

　I．はじめに

　Marinesco-Sjögren症候群は，幼児期に発病し，①白内障，②運動失調，③精神薄弱および④身体矮小を中核症状とする症候群で単劣性遺伝形式をとる特異な脊髄小脳変性症の1つと考えられ，きわめて稀な疾患である^2）。今回，著者は本症候群と思われる症例について，小脳症状のチェックを目的として神経内科より依頼されて，神経耳科的観点から検査する機会を得たので，その結果について報告しておきたい。

　A case of Marinesco-Sjögren's syndrome wasreported, and studied from the otoneurological point of view.

　This rare syndrome is characterized by cerebellar ataxia, congenital cataracts and physical and mental retardation.

　On the neurological examination.

　A psychosomatic retardation with oligophrenic type of mental deficit and mild cerebellar symptoms were disclosed. The otoneurological examinations revealed bilateral gaze nystagmus, rebound nystagmus, middle grade of abnormality of optokinetic nystagmus test and dysmetric pursuit eye movement. The findings of CT scan suggested cerebellar atrophy.

　In conclusion due to the above findings, the author stressed that the most responsible lesion to the signs and symptoms of this case was thought to be within the cerebellum, and that Marinesco-Sjögren's syndrome belongs to a cerebellar type in the spinal-cerebellar degeneration.