多発性関節拘縮に瞳孔不同と対光反射異常を伴う多発奇形症候群の1例

Anisocoria,abnormal pupillary reflex and multiple arthrogryposis in a case of multiple abnormalities syndrome

要約　目的：瞳孔不同と対光反射の消失がある多発奇形症候群の1例の報告。症例：生後4か月の男児に出生時から小顎，鞍鼻，上下肢の多発性関節拘縮，小陰茎，内反足，舟状足があった。瞳孔は正円で虹彩紋理は正常，瞳孔径は右3.5mm，左2.5mmで，対光反射はなかった。前眼部から眼底に異常はなかった。網膜電図は正常で，視覚誘発電位には右後頭部と左後頭部の波形に大きな振幅差があった。3歳になった現在，右眼には対光反射の減弱があり，左眼には対光反射がない。結論：本症例では，多発性関節拘縮と眼異常が合併する多発奇形症候群であるcerebro-oculo-facio-skeletal syndrome type 1が疑われる。

Abstract.　Purpose：To report a case of multiple abnormalities syndrome with anisocoria and pupillary reflex defect. Case：A 4-month-old male infant presented with micrognathia,saddle nose,multiple arthrogryposis of upper and lower limbs,micropenis,club foot and scaphoid foot since birth. The pupils were round and centered. Iris pattern was normal. The pupil diameter was 3.5 mm right and 2.5 mm left. Light reflex was absent. No abnormality was present in the anterior and posterior segment. Both eyes showed normal electroretinogram（ERG）. Visually evoked response was weaker from the right occipital lobe than that from the left. The child is now 3 years old. The right eye shows weak light reflex and the left eye shows no light reflex. Conclusion：This case is presumed to be cerebro-oculo-facio-skeletal syndrome type 1 which is an instance of multiple abnormalities syndrome including multiple arthrogryposis and pupillary disorders.