Murakami I, Arakawa K, Hara H, Taniwaki T, Yamada T, Kira J
Department of Neurology, Graduate School of Medical Sciences, Kyushu University, Fukuoka.
Rinsho Shinkeigaku. 1999 Nov;39(11):1153-5.
We herein report a Japanese case of Poland-Möbius syndrome. The patient was a 19-year-old female. She was the product of a full-term forceps delivery. Birth weight was 2500 g. She had a defect of the right pectoral muscle, and syndactyly of the right hand. When she was 10 days old, facial diplegia, bilateral abducens nerve palsy, and bilateral ptosis were also noted. She was admitted to our hospital at 19 years of age. On physical examination, she had microsyndactyly of the right hand, and her right pectoralis major muscle was absent. Neurological examination revealed bilateral abducens nerve paresis, mild impairement of the upward and adducting movement of both eyes and bilateral facial weakness and atrophy of the left side of her tongue. Her karyotype was normal. Neither R 1 nor R 2 response was evoked in the blink reflex on either side. Brain MRI disclosed thin facial nerves and atrophy of the pons and medulla. Therefore, she was diagnosed as a case of Poland-Möbius syndrome. In this case, the facial nerves were considered to be hypoplastic.
我们在此报告一例日本的波兰-莫比乌斯综合征病例。患者为一名19岁女性。她是足月产钳分娩的产物。出生体重为2500克。她右侧胸肌有缺陷，右手并指。出生10天时，还发现有面瘫、双侧展神经麻痹和双侧上睑下垂。她19岁时入住我院。体格检查发现，她右手有轻度并指，右侧胸大肌缺失。神经学检查显示双侧展神经麻痹，双眼向上和内收运动轻度受损，双侧面部无力以及左侧舌肌萎缩。她的核型正常。两侧瞬目反射均未引出R1和R2反应。脑部磁共振成像显示面神经纤细，脑桥和延髓萎缩。因此，她被诊断为波兰-莫比乌斯综合征病例。在该病例中，面神经被认为发育不全。
