Blepharoptosis As an Early Manifestation of Neuronal Intranuclear Inclusion Disease.
Intern Med
; 63(8): 1163-1166, 2024.
Article
en En
| 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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades del Sistema Nervioso Autónomo
/
Blefaroptosis
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Enfermedades Neurodegenerativas
Límite:
Female
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Humans
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Middle aged
Idioma:
En
Revista:
Intern Med
Asunto de la revista:
MEDICINA INTERNA
Año:
2024
Tipo del documento:
Article
País de afiliación:
Japón