%0 Case Reports
%T Blepharoptosis As an Early Manifestation of Neuronal Intranuclear Inclusion Disease.
%A Miyaue N
%A Ochi C
%A Ito YH
%A Ando R
%A Sone J
%A Nagai M
%J Intern Med
%V 63
%N 8
%D 2024
%M 38616117
%F 1.282
%R 10.2169/internalmedicine.2384-23
%X 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.