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Blepharoptosis As an Early Manifestation of Neuronal Intranuclear Inclusion Disease.

Noriyuki MiyaueChikako OchiYuko H ItoRina AndoJun SoneMasahiro Nagai
Published in: Internal medicine (Tokyo, Japan) (2024)
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.
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