误诊为CIDP的神经元核内包涵体病1例报告

Neuronal intranuclear inclusion disease misdiagnosed as CIDP:a case report

患者,中年男性,因反复双下肢无力误诊为慢性炎性脱髓鞘性多发性神经根神经病,后因双下肢无力、反复头痛、恶心呕吐再次就诊,头部磁共振可见双侧大脑皮髓质交界区呈弥散受限高信号,免疫组织化学染色见部分汗腺细胞、脂肪细胞和纤维细胞的细胞核内P62、泛素抗体强阳性染色的包涵体,基因检测NOTCH2NLC基因中GGC异常扩增次数142次。诊断神经元核内包涵体病明确。该病例提示我们发现周围神经病变时,应注意中枢神经系统是否累及。

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.