{Reference Type}: Case Reports
{Title}: Blepharoptosis As an Early Manifestation of Neuronal Intranuclear Inclusion Disease.
{Author}: Miyaue N;Ochi C;Ito YH;Ando R;Sone J;Nagai M;
{Journal}: Intern Med
{Volume}: 63
{Issue}: 8
{Year}: 2024
{Factor}: 1.282
{DOI}: 10.2169/internalmedicine.2384-23
{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.