Tags

Type your tag names separated by a space and hit enter

[Neuronal intranuclear inclusion disease in a patient who exhibited abnormal behavior].
Rinsho Shinkeigaku. 2022 May 31; 62(5):369-374.RS

Abstract

A 63-year-old woman with no medical history of note developed acute-onset abnormal behavior persisting for one week. Mild disturbance of consciousness was noted on physical examination. Her blood and spinal fluid test results were normal. On brain MRI, diffusion-weighted image showed a high-intensity signal in U-fiber areas of the bilateral frontal lobes, and fluid-attenuated inversion recovery showed white matter lesions. We suspected neuronal intranuclear inclusion disease (NIID) based on brain MRI findings; therefore, we performed a skin biopsy and genetic test. Pathological findings of the skin biopsy revealed the presence of anti-p62-positive intranuclear inclusion bodies in fibroblasts and adipocytes. The genetic test showed GGC repeat expansion of NOTCH2NLC, but no mutation of FMR1. Thus, we diagnosed her with NIID. The acute-onset abnormal behavior was improved by levetiracetam. The present case indicates that patients with a high-intensity area in the corticomedullary junction should undergo a skin biopsy, even though they may present with non-specific symptoms such as acute-onset abnormal behavior.

Links

Publisher Full Text (DOI)

Authors+Show Affiliations

Ueda R
Department of Neurology, North Medical Center Kyoto Prefectural University of Medicine. Department of Neurology and Stroke Treatment, Kyoto Daiichi Red Cross Hospital.
Koizumi T
Department of Neurology, North Medical Center Kyoto Prefectural University of Medicine. Department of Anatomy and Neurobiology, Kyoto Prefectural University of Medicine.
Mizuno T
Department of Neurology, Kyoto Prefectural University of Medicine.
Nakagawa M
Department of Neurology, North Medical Center Kyoto Prefectural University of Medicine. Professor emeritus, Kyoto Kyoto Prefectural University of Medicine.

MeSH

BiopsyFemaleFragile X Mental Retardation ProteinHumansIntranuclear Inclusion BodiesMagnetic Resonance ImagingMiddle AgedNeurodegenerative Diseases

Pub Type(s)

Case Reports
Journal Article

Language

jpn

PubMed ID

35474285

Citation

Ueda, Ryota, et al. "[Neuronal Intranuclear Inclusion Disease in a Patient Who Exhibited Abnormal Behavior]." Rinsho Shinkeigaku = Clinical Neurology, vol. 62, no. 5, 2022, pp. 369-374.
Ueda R, Koizumi T, Mizuno T, et al. [Neuronal intranuclear inclusion disease in a patient who exhibited abnormal behavior]. Rinsho Shinkeigaku. 2022;62(5):369-374.
Ueda, R., Koizumi, T., Mizuno, T., & Nakagawa, M. (2022). [Neuronal intranuclear inclusion disease in a patient who exhibited abnormal behavior]. Rinsho Shinkeigaku = Clinical Neurology, 62(5), 369-374. https://doi.org/10.5692/clinicalneurol.cn-001689
Ueda R, et al. [Neuronal Intranuclear Inclusion Disease in a Patient Who Exhibited Abnormal Behavior]. Rinsho Shinkeigaku. 2022 May 31;62(5):369-374. PubMed PMID: 35474285.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Neuronal intranuclear inclusion disease in a patient who exhibited abnormal behavior]. AU - Ueda,Ryota, AU - Koizumi,Takashi, AU - Mizuno,Toshiki, AU - Nakagawa,Masanori, Y1 - 2022/04/26/ PY - 2022/4/28/pubmed PY - 2022/6/7/medline PY - 2022/4/27/entrez KW - NOTCH2NLC KW - acute-onset abnormal behavior KW - neuronal intranuclear inclusion disease KW - skin biopsy SP - 369 EP - 374 JF - Rinsho shinkeigaku = Clinical neurology JO - Rinsho Shinkeigaku VL - 62 IS - 5 N2 - A 63-year-old woman with no medical history of note developed acute-onset abnormal behavior persisting for one week. Mild disturbance of consciousness was noted on physical examination. Her blood and spinal fluid test results were normal. On brain MRI, diffusion-weighted image showed a high-intensity signal in U-fiber areas of the bilateral frontal lobes, and fluid-attenuated inversion recovery showed white matter lesions. We suspected neuronal intranuclear inclusion disease (NIID) based on brain MRI findings; therefore, we performed a skin biopsy and genetic test. Pathological findings of the skin biopsy revealed the presence of anti-p62-positive intranuclear inclusion bodies in fibroblasts and adipocytes. The genetic test showed GGC repeat expansion of NOTCH2NLC, but no mutation of FMR1. Thus, we diagnosed her with NIID. The acute-onset abnormal behavior was improved by levetiracetam. The present case indicates that patients with a high-intensity area in the corticomedullary junction should undergo a skin biopsy, even though they may present with non-specific symptoms such as acute-onset abnormal behavior. SN - 1882-0654 UR - https://www.unboundmedicine.com/medline/citation/35474285/[Neuronal_intranuclear_inclusion_disease_in_a_patient_who_exhibited_abnormal_behavior]_ DB - PRIME DP - Unbound Medicine ER -