作者：王晶晶，崔丽丽，王焕，苗江永，张祥建

单位：

050000 河北省石家庄市，河北医科大学第二医院神经内科

Units：

Neurology Department，the Second Hospital of Hebei Medical University，Shijiazhuang 050000，China

关键词：

神经变性疾病；神经元核内包涵体病；眼睑痉挛；病例报告

Keywords：

Neurodegenerative diseases；Neuronal intranuclear inclusion disease；Blepharospasm；Case reports

CLC：

DOI：

10.12114/j.issn.1008-5971.2021.00.026

Funds：

摘要：

背景　神经元核内包涵体病（NIID）是一种慢性进展的神经系统退行性疾病，具有特征性的病理及影像学表现，但其临床表现具有高度异质性，主要涉及锥体系和锥体外系症状、小脑共济失调、痴呆、周围神经损伤及自主神经功能障碍等。目的　探讨 NIID 的病理机制、临床表现、影像学特征、临床诊断及治疗。方法　分析河北医科大学第二医院收治的 1 例 NIID 伴眼睑痉挛患者的临床资料，并以“核内包涵体病、神经元核内包涵体病、神经元核内透明包涵体病、intranuclear inclusion body disease、neuronal intranuclear inclusion disease、neuronal intranuclear hyaline inclusion disease”为关键词，检索万方数据知识服务平台、中国知网、PubMed 数据库 1968 年 1 月—2020 年 7月公开发表的 NIID 病例。结果　共检索到国内外文献报道 43 篇，结合本例，共纳入 34 例成人散发型 NIID 患者及来自 11 个家庭的 29 例成人家族型 NIID 患者。成人散发型 NIID 主要表现为亚临床的周围神经损伤、慢性进展的认知功能障碍及自主神经功能障碍。成人家族型 NIID 则以慢性进展的肌无力、自主神经功能障碍（膀胱功能障碍或假性肠梗阻表现等）为主要表现。认知障碍、膀胱功能障碍在两型 NIID 中均主要表现为慢性进展，而消化道症状、精神行为异常、意识障碍则主要表现为间歇性发作。两型 NIID 患者中合并眼部症状者多以视力下降或瞳孔缩小为主要表现，本例患者则以眼睑痉挛为特点。结论　NIID 伴眼睑痉挛者较少，多表现为痴呆、锥体外系症状及自主神经功能障碍。全面认识 NIID 将有助于早期诊断及治疗，提高患者生活质量，改善患者预后。

Abstract：

Background　Neuronal intranuclear inclusion disease（NIID）is a chronic progressive neurodegenerative disease with characteristic pathological and imaging manifestations.However，it has been considered to be a heterogeneous disease involving pyramidal and extrapyramidal system，cerebellar ataxia，dementia，peripheral neuropathy and autonomic nerve dysfunction.Objective　To explore the pathological mechanisms，clinical manifestations，imaging features，clinicaldiagnosis and treatment of NIID.Methods　The clinical data of a patient with NIID complicated with blepharospasm in the Second Hospital of Hebei Medical University was analyzed.Besides，publicly published reports on NIID during January 1968 to July 2020 were retrieved from electronic databases of Wanfang Data Knowledge Service Platform，CNKI，and PubMed using " 核内包涵体病，神经元核内包涵体病，神经元核内透明包涵体病，intranuclear inclusion body disease，neuronal intranuclear inclusion disease，neuronal intranuclear hyaline inclusion disease" as keywords.Results　A total of 43 domestic and foreign literature reports were researched，combined with our case，including 34 adult sporadic NIID cases and 29 adult familial NIID cases from 11 families.Adult sporadic NIID mainly manifests as subclinical peripheral nerve injury，chronically progressive cognitive dysfunction and autonomic nerve dysfunction.However，adult familial NIID is mainly manifested by chronic progressive muscle weakness and autonomic dysfunction（bladder dysfunction or pseudo-intestinal obstruction，etc.）.Cognitive dysfunction and bladder dysfunction are mainly manifested as chronic progression in the two types of NIID，while gastrointestinal symptoms，mental behavior abnormalities，and consciousness disorders are mainly manifested as intermittent attacks.In the two types of NIID patients with ocular symptoms，the main manifestations are decreased vision or miosis.This patient is characterized by blepharospasm.Conclusion　NIID is less complicated with blepharospasm，most of which were dementia，extrapyramidal symptoms and autonomic dysfunction.A comprehensive understanding of NIID will help early diagnosis and treatment，improve the patients' quality of life and prognosis.

ReferenceList：