瞳孔緊張症が認められたCharcot-Marie-Tooth病の1例

A case of Charcot-Marie-Tooth disease with myotonic pupils

　筆者らは両側の瞳孔緊張症を伴ったCharcot-Marie-Tooth病（以下CMT病と略す）の1例を経験した。症例は63歳の女性。1989年10月17日，瞳孔異常の精査目的で当科を受診した。瞳孔は両眼とも不正円形で，瞳孔径は右3.5 mm，左4.0mmであった。対光反応および輻輳時の縮瞳は認められなかった。0.1％ピロカルピン点眼にて瞳孔径は，右2mm，左2.5mmまで縮瞳した。全身的には下肢で腱反射の低下がみられた。瞳孔緊張症は主に毛様体神経節の障害と考えられており，これはCMT病などの末梢神経障害と関連した自律神経障害の一部を示したものと思われる。

We reported a case of Charcot-Marie-Tooth disease (CMTD) with myotonic pupils. A 63 years old woman has had CMTD for 4 years. She showed pupillary abnormalitis in her both eyes. The visual acuity was 1.0 in both eyes. Her pupils were irregu-lar diameter of the pupils were 3.5 mm in the right and 4 mm in the left eyes. There was no pupillary response to light nor to accommodation. After 0.1 % pilocarpine instillation, pupillary diameters were 2 mm in the right, 2.5 mm in the left. Neu-rological examination showed weakness of deep tendon reflexes. Myotonic pupils with CMTD prob-ably represent part of the autonomic nervous sys-tem dysfunction associated with the polyneu-ropathy in CMTD.