Neuronal intranuclear inclusion disease misdiagnosed as CIDP： a case report / 中风与神经疾病杂志

ABSTRACT

@#A middle-aged male patient，had the chief complaint of recurrent lower limb weakness，and he was misdiagnosed with chronic inflammatory demyelinating polyradiculoneuropathy. Later the patient attended the hospital again due to lower limb weakness，recurrent headache，and nausea and vomiting. The cerebral magnetic resonance imaging showed diffuse restricted high-signal lesions at the bilateral cerebral corticomedullary junctions； immunohistochemical staining showed that inclusion bodies strongly stained with P62 and ubiquitin antibodies were observed in the nuclei of some sweat gland cells，adipocytes，and fibroblasts； genetic testing showed 142 times of the abnormal amplification of GGC in the NOTCH2NLC gene. Therefore，a confirmed diagnosis of neuronal intranuclear inclusion disease （NIID） was made. This case suggests that we should pay attention to whether the central nervous system is involved when peripheral neuropathy is observed.