PDF(Pubmed)
Abstract：
Neuronal intranuclear inclusion disease (NIID) exhibits diverse clinical manifestations. Our patient was a 64-year-old woman with bilateral ptosis as the chief complaint. She had bilateral miosis, and the pupil was only slightly dilated 60 min after 1% phenylephrine administration, suggesting autonomic dysfunction secondary to preganglionic sympathetic impairment. A head-up tilt test revealed asymptomatic orthostatic hypotension. She was diagnosed with NIID based on a skin biopsy and genetic testing. This study suggests that blepharoptosis is an early manifestation of NIID. Furthermore, patients with suspected NIID should be examined carefully for autonomic dysfunction.
摘要：
神经核内包涵体病（NIID）表现出不同的临床表现。我们的患者是一名64岁的女性，主要主诉为双侧下垂。她有双侧瞳孔缩小,1％去氧肾上腺素给药后60分钟，瞳孔仅略微扩张，提示自主神经功能障碍继发于节前交感神经损害。抬头倾斜试验显示无症状的直立性低血压。根据皮肤活检和基因检测，她被诊断为NIID。本研究提示上睑下垂是NIID的早期表现。此外，疑似NIID的患者应仔细检查自主神经功能障碍.
