Letter to the EditorNeuronal intranuclear inclusion disease showing blepharoptosis and positive serum anti-acetylcholine receptor antibody without myasthenia gravis
Section snippets
Case presentation
A 61-year-old man, who had diabetes mellitus, hypertension, and hyperlipidemia for several years, consulted our hospital. The patient had bilateral blepharoptosis since 40-year-old (Fig. 1A–C) and weakness in the lower-extremities since 60-year-old, without easy muscle fatigue or diurnal variation of muscle weakness. He had no family history of neurological disorders. The blepharoptosis became gradually worse. Neurological examinations showed bilateral blepharoptosis, miosis, mildly limited eye
Discussion
Our patient developed blepharoptosis since 40-year-old, followed by lower-extremity weakness at 60-year-old. Neurophysiological, imaging, and pathological studies revealed both myopathy and neuropathy. Cognitive functions were preserved. The MRI findings and IIBs in the skin led to the diagnosis of NIID. Interestingly, although serum AChR-Ab was positive, there were no myasthenic symptoms or neurophysiological evidence for MG, despite ocular manifestations including ptosis and ophthalmoplegia.
Financial disclosure
No author has a financial relationship with the company who manufactures any product or equipment discussed in this manuscript.
Disclosure of conflict of interest
None.
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