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Adult-onset neuronal intranuclear inclusion disease, with both stroke-like onset and encephalitic attacks: a case report.
BMC Neurol. 2021 Mar 31; 21(1):142.BN

Abstract

BACKGROUND

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease, the clinical manifestations of which are complex and easily misdiagnosed. NIID clinical characteristics are varied, affecting the central and peripheral nervous systems and autonomic nerves. In this study, we present an NIID case with both stroke-like onset and encephalitic attacks, which is a rare case report.

CASE PRESENTATION

A 68-year-old Chinese female presented with sudden aphasia and limb hemiplegia as the first symptoms, as well as fever, cognitive impairment and mental irritability from encephalitic attacks. During hospitalization, a brain magnetic resonance imaging (MRI) examination detected high signal intensity from diffusion-weighted imaging (DWI) of the bilateral frontal grey matter-white matter junction. Electrophysiological tests revealed the main site of injury was at the myelin sheath in the motor nerves. A skin biopsy revealed eosinophilic spherical inclusion bodies in the nuclei of small sweat gland cells, fibroblasts and fat cells, whilst immunohistochemistry revealed that p62 and ubiquitin antibodies were positive. From genetic analyses, the patient was not a carrier of the fragile X mental retardation 1 (FMR1) permutation, but repeated GGC sequences in the NOTCH2NLC gene confirmed an NIID diagnosis. Through antipsychotic and nutritional support therapy, the patient's symptoms were completely relieved within 3 weeks.

CONCLUSIONS

This report of an NIID case with both stroke-like onset and encephalitic attacks provides new information for NIID diagnoses, and a comprehensive classification of clinical characteristics.

Authors+Show Affiliations

Department of Neurology, Chongqing Renji Hospital, University of Chinese Academy of Sciences, Chongqing, 400062, China. hellenahy@foxmail.com.Department of Neurology, Chongqing Renji Hospital, University of Chinese Academy of Sciences, Chongqing, 400062, China.Department of Neurology, Chongqing Renji Hospital, University of Chinese Academy of Sciences, Chongqing, 400062, China.Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

33789591

Citation

Huang, Ying, et al. "Adult-onset Neuronal Intranuclear Inclusion Disease, With Both Stroke-like Onset and Encephalitic Attacks: a Case Report." BMC Neurology, vol. 21, no. 1, 2021, p. 142.
Huang Y, Jin G, Zhan QL, et al. Adult-onset neuronal intranuclear inclusion disease, with both stroke-like onset and encephalitic attacks: a case report. BMC Neurol. 2021;21(1):142.
Huang, Y., Jin, G., Zhan, Q. L., Tian, Y., & Shen, L. (2021). Adult-onset neuronal intranuclear inclusion disease, with both stroke-like onset and encephalitic attacks: a case report. BMC Neurology, 21(1), 142. https://doi.org/10.1186/s12883-021-02164-1
Huang Y, et al. Adult-onset Neuronal Intranuclear Inclusion Disease, With Both Stroke-like Onset and Encephalitic Attacks: a Case Report. BMC Neurol. 2021 Mar 31;21(1):142. PubMed PMID: 33789591.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Adult-onset neuronal intranuclear inclusion disease, with both stroke-like onset and encephalitic attacks: a case report. AU - Huang,Ying, AU - Jin,Ge, AU - Zhan,Qun-Ling, AU - Tian,Yun, AU - Shen,Lu, Y1 - 2021/03/31/ PY - 2020/11/23/received PY - 2021/03/22/accepted PY - 2021/4/1/entrez PY - 2021/4/2/pubmed PY - 2021/6/9/medline KW - Acute cerebral infarction KW - Encephalitic attacks KW - Genetic testing KW - Magnetic resonance imaging KW - Neuronal intranuclear inclusion disease KW - Skin biopsy KW - p62/ubiquitin staining SP - 142 EP - 142 JF - BMC neurology JO - BMC Neurol VL - 21 IS - 1 N2 - BACKGROUND: Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease, the clinical manifestations of which are complex and easily misdiagnosed. NIID clinical characteristics are varied, affecting the central and peripheral nervous systems and autonomic nerves. In this study, we present an NIID case with both stroke-like onset and encephalitic attacks, which is a rare case report. CASE PRESENTATION: A 68-year-old Chinese female presented with sudden aphasia and limb hemiplegia as the first symptoms, as well as fever, cognitive impairment and mental irritability from encephalitic attacks. During hospitalization, a brain magnetic resonance imaging (MRI) examination detected high signal intensity from diffusion-weighted imaging (DWI) of the bilateral frontal grey matter-white matter junction. Electrophysiological tests revealed the main site of injury was at the myelin sheath in the motor nerves. A skin biopsy revealed eosinophilic spherical inclusion bodies in the nuclei of small sweat gland cells, fibroblasts and fat cells, whilst immunohistochemistry revealed that p62 and ubiquitin antibodies were positive. From genetic analyses, the patient was not a carrier of the fragile X mental retardation 1 (FMR1) permutation, but repeated GGC sequences in the NOTCH2NLC gene confirmed an NIID diagnosis. Through antipsychotic and nutritional support therapy, the patient's symptoms were completely relieved within 3 weeks. CONCLUSIONS: This report of an NIID case with both stroke-like onset and encephalitic attacks provides new information for NIID diagnoses, and a comprehensive classification of clinical characteristics. SN - 1471-2377 UR - https://www.unboundmedicine.com/medline/citation/33789591/Adult_onset_neuronal_intranuclear_inclusion_disease_with_both_stroke_like_onset_and_encephalitic_attacks:_a_case_report_ L2 - https://bmcneurol.biomedcentral.com/articles/10.1186/s12883-021-02164-1 DB - PRIME DP - Unbound Medicine ER -