Adult-onset neuronal intranuclear inclusion disease, with both stroke-like onset and encephalitic attacks: a case report

• Published in: BMC neurology 2021-03, Vol.21 (1), p.142-142, Article 142
• Main Authors: Huang, Ying, Jin, Ge, Zhan, Qun-Ling, Tian, Yun, Shen, Lu
• Format: Article
• Language: English
• Subjects: Acute cerebral infarction; Adipocytes; Antipsychotics; Aphasia; Ataxia; Autonomic nervous system; Biopsy; Case Report; Cognitive ability; Consciousness; Cytomegalovirus; Degeneration; Disease; Electroencephalography; Encephalitic attacks; Fever; Fibroblasts; FMR1 protein; Fragile X syndrome; Genetic analysis; Hemiplegia; Hospitalization; Immunohistochemistry; Inclusion bodies; Leukocytes (eosinophilic); Magnetic resonance imaging; Microscopy; Muscle strength; Myelin; Nervous system; Neurodegenerative diseases; Neuroimaging; Neuronal intranuclear inclusion disease; p62/ubiquitin staining; Pathogenesis; Proteins; Skin biopsy; Stroke; Substantia alba; Substantia grisea; Sweat gland; Ubiquitin
• ISSN: 1471-2377; 1471-2377
• DOI: 10.1186/s12883-021-02164-1

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. 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. 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.