1.
Intern Med
; 63(8): 1163-1166, 2024.
Article
in English
| MEDLINE
| ID: mdl-38616117
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.
Subject(s)
Autonomic Nervous System Diseases , Blepharoptosis , Neurodegenerative Diseases , Female , Humans , Middle Aged , Blepharoptosis/diagnosis , Blepharoptosis/etiology , Biopsy , Genetic Testing , Intranuclear Inclusion Bodies
2.
J Neurol Sci
; 445: 120549, 2023 02 15.
Article
in English
| MEDLINE
| ID: mdl-36641831