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Multiple reversible encephalitic attacks: a rare manifestation of neuronal intranuclear inclusion disease.
BMC Neurol. 2020 Apr 08; 20(1):125.BN

Abstract

BACKGROUND

Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative condition characterized by the loss of neurons and the presence of eosinophilic nuclear inclusions in the central and peripheral nervous system, skin and visceral organs. In this paper, we present a case of NIID with recurrent encephalitic attacks that remained stable and nonprogressive for seven years; no such case has previously been reported.

CASE PRESENTATION

A 63-year-old female was hospitalized due to light-headedness, vomiting, unstable gait and cognitive impairment. Seven years prior, she had experienced an episode of light-headedness, central facial paralysis, unstable gait, aphasia, nausea, vomiting and loss of consciousness. She regained consciousness within 12 h, and her other symptoms were completely resolved within one week. During the present hospitalization, a brain magnetic resonance imaging (MRI) examination detected high signal intensity on diffusion-weighted imaging (DWI) of the bilateral frontal grey matter-white matter junction. We reviewed the patient's previous MRI results and found that she had also had high signal intensity on DWI of the bilateral frontal grey matter-white matter junction seven years prior. In the intervening seven years, the high signal intensity in the frontal lobes had spread along the grey matter-white matter junction, but the deep white matter remained unaffected. Skin biopsy was performed, and intranuclear inclusions were found in adipocytes, fibroblasts and sweat gland cells. GGC repeat expansions in the NOTCH2NLC (Notch 2 N-terminal like C) gene confirmed the diagnosis of NIID. She received supportive treatment such as nutrition support therapy and vitamin B and C supplementation, as well as symptomatic treatment during hospitalization. The patient's symptoms were completely relieved within one week.

CONCLUSION

This is a detailed report of a case of NIID with multiple reversible encephalitic attacks, diagnosed by clinical symptoms, intranuclear inclusions, characteristic DWI signals, and genetic tests.

Links

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Authors+Show Affiliations

Li M
Department of Neurology, Lanzhou University Second Hospital, Lanzhou, 730000, Gansu, China.
Li K
Department of Neurology, Beijing Hospital, National Center of Gerontology, Beijing, 100730, China.
Li X
Department of Neurology, Lanzhou University Second Hospital, Lanzhou, 730000, Gansu, China.
Tian Y
Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.
Shen L
Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, China.
Wu G
Department of Neurology, Lanzhou University Second Hospital, Lanzhou, 730000, Gansu, China. wgdlzh@163.com.
Zhang Z
Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, 100050, China. ttyy0142011@126.com.
Chen W
Department of Neurology, First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325000, Zhejiang, China. wzanan@126.com.

MeSH

BiopsyCognitive DysfunctionDiffusion Magnetic Resonance ImagingEncephalitisFemaleHumansIntranuclear Inclusion BodiesMagnetic Resonance ImagingMiddle AgedNeurodegenerative DiseasesSkin

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

32268889

Citation

Li, Mingming, et al. "Multiple Reversible Encephalitic Attacks: a Rare Manifestation of Neuronal Intranuclear Inclusion Disease." BMC Neurology, vol. 20, no. 1, 2020, p. 125.
Li M, Li K, Li X, et al. Multiple reversible encephalitic attacks: a rare manifestation of neuronal intranuclear inclusion disease. BMC Neurol. 2020;20(1):125.
Li, M., Li, K., Li, X., Tian, Y., Shen, L., Wu, G., Zhang, Z., & Chen, W. (2020). Multiple reversible encephalitic attacks: a rare manifestation of neuronal intranuclear inclusion disease. BMC Neurology, 20(1), 125. https://doi.org/10.1186/s12883-020-01712-5
Li M, et al. Multiple Reversible Encephalitic Attacks: a Rare Manifestation of Neuronal Intranuclear Inclusion Disease. BMC Neurol. 2020 Apr 8;20(1):125. PubMed PMID: 32268889.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Multiple reversible encephalitic attacks: a rare manifestation of neuronal intranuclear inclusion disease. AU - Li,Mingming, AU - Li,Kai, AU - Li,Xin, AU - Tian,Yun, AU - Shen,Lu, AU - Wu,Guode, AU - Zhang,Zaiqiang, AU - Chen,Weian, Y1 - 2020/04/08/ PY - 2019/06/25/received PY - 2020/03/30/accepted PY - 2020/4/10/entrez PY - 2020/4/10/pubmed PY - 2020/9/8/medline KW - GGC repeat expansions KW - Intranuclear inclusion KW - Multiple reversible encephalitic attacks KW - Neuronal intranuclear inclusion disease KW - Skin biopsy SP - 125 EP - 125 JF - BMC neurology JO - BMC Neurol VL - 20 IS - 1 N2 - BACKGROUND: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative condition characterized by the loss of neurons and the presence of eosinophilic nuclear inclusions in the central and peripheral nervous system, skin and visceral organs. In this paper, we present a case of NIID with recurrent encephalitic attacks that remained stable and nonprogressive for seven years; no such case has previously been reported. CASE PRESENTATION: A 63-year-old female was hospitalized due to light-headedness, vomiting, unstable gait and cognitive impairment. Seven years prior, she had experienced an episode of light-headedness, central facial paralysis, unstable gait, aphasia, nausea, vomiting and loss of consciousness. She regained consciousness within 12 h, and her other symptoms were completely resolved within one week. During the present hospitalization, a brain magnetic resonance imaging (MRI) examination detected high signal intensity on diffusion-weighted imaging (DWI) of the bilateral frontal grey matter-white matter junction. We reviewed the patient's previous MRI results and found that she had also had high signal intensity on DWI of the bilateral frontal grey matter-white matter junction seven years prior. In the intervening seven years, the high signal intensity in the frontal lobes had spread along the grey matter-white matter junction, but the deep white matter remained unaffected. Skin biopsy was performed, and intranuclear inclusions were found in adipocytes, fibroblasts and sweat gland cells. GGC repeat expansions in the NOTCH2NLC (Notch 2 N-terminal like C) gene confirmed the diagnosis of NIID. She received supportive treatment such as nutrition support therapy and vitamin B and C supplementation, as well as symptomatic treatment during hospitalization. The patient's symptoms were completely relieved within one week. CONCLUSION: This is a detailed report of a case of NIID with multiple reversible encephalitic attacks, diagnosed by clinical symptoms, intranuclear inclusions, characteristic DWI signals, and genetic tests. SN - 1471-2377 UR - https://www.unboundmedicine.com/medline/citation/32268889/Multiple_reversible_encephalitic_attacks:_a_rare_manifestation_of_neuronal_intranuclear_inclusion_disease_ DB - PRIME DP - Unbound Medicine ER -