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Published in: BMC Neurology 1/2022

Open Access 01-12-2022 | Migraine | Case report

Recurrent headache and visual symptoms in a young man: a rare neuronal intranuclear inclusion disease case report

Authors: Ning Su, He-Jiao Mao, Chen-Hui Mao, Li-Ying Cui, Yi-Cheng Zhu, Yan Zhou, Jun Ni

Published in: BMC Neurology | Issue 1/2022

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Abstract

Background

Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disease. Patients with NIID may present with heterogeneous clinical symptoms, including episodic encephalopathy, dementia, limb weakness, cerebellar ataxia, and autonomic dysfunction. Among the NIID cases reported in China, patients often have complicated and severe manifestations. Therefore, many clinicians do not consider the disease when the patient presents with relatively minor complaints.

Case presentation

We present the case of a 39-year-old man showing migraine-aura-like symptoms for the past 3 years. Brain magnetic resonance imaging (MRI) revealed hyperintense signals in the splenium of the corpus callosum and corticomedullary junction on diffusion-weighted imaging (DWI) over time. In addition, brain atrophy that was not concomitant with the patient’s age was detected while retrospectively reviewing the patient’s imaging results. Genetic analysis and skin biopsy confirmed a diagnosis of NIID. The patient was treated with sibelium, and the symptoms did not recur.

Discussion and Conclusions

Migraine-aura-like symptoms may be the predominant clinical presentation in young patients with NIID. Persistent high-intensity signals on DWI in the brain and early-onset brain atrophy might be clues for the diagnosis of NIID.
Literature
1.
go back to reference Lu X, Hong D. Neuronal intranuclear inclusion disease: recognition and update. J Neural Transm (Vienna). 2021;128(3):295–303.CrossRef Lu X, Hong D. Neuronal intranuclear inclusion disease: recognition and update. J Neural Transm (Vienna). 2021;128(3):295–303.CrossRef
2.
go back to reference Takahashi-Fujigasaki J, Nakano Y, Uchino A, Murayama S. Adult-onset neuronal intranuclear hyaline inclusion disease is not rare in older adults. Geriatr Gerontol Int. 2016;16(Suppl 1):51–6.CrossRefPubMed Takahashi-Fujigasaki J, Nakano Y, Uchino A, Murayama S. Adult-onset neuronal intranuclear hyaline inclusion disease is not rare in older adults. Geriatr Gerontol Int. 2016;16(Suppl 1):51–6.CrossRefPubMed
3.
go back to reference Wang R, Nie X, Xu S, Zhang M, Dong Z, Yu S. Interrelated Pathogenesis? Neuronal Intranuclear Inclusion Disease Combining With Hemiplegic Migraine. Headache. 2020;60(2):382–95.CrossRefPubMed Wang R, Nie X, Xu S, Zhang M, Dong Z, Yu S. Interrelated Pathogenesis? Neuronal Intranuclear Inclusion Disease Combining With Hemiplegic Migraine. Headache. 2020;60(2):382–95.CrossRefPubMed
4.
go back to reference Zhao D, Zhu S, Xu Q, Deng J, Wang Z, Liu X. Neuronal intranuclear inclusion disease presented with recurrent vestibular migraine-like attack: a case presentation. BMC Neurol. 2021;21(1):334.CrossRefPubMedPubMedCentral Zhao D, Zhu S, Xu Q, Deng J, Wang Z, Liu X. Neuronal intranuclear inclusion disease presented with recurrent vestibular migraine-like attack: a case presentation. BMC Neurol. 2021;21(1):334.CrossRefPubMedPubMedCentral
6.
go back to reference Deng J, Gu M, Miao Y, Yao S, Zhu M, Fang P, et al. Long-read sequencing identified repeat expansions in the 5’UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease. J Med Genet. 2019;56(11):758–64.CrossRefPubMed Deng J, Gu M, Miao Y, Yao S, Zhu M, Fang P, et al. Long-read sequencing identified repeat expansions in the 5’UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease. J Med Genet. 2019;56(11):758–64.CrossRefPubMed
7.
go back to reference Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, et al. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet. 2019;51(8):1215–21.CrossRefPubMed Sone J, Mitsuhashi S, Fujita A, Mizuguchi T, Hamanaka K, Mori K, et al. Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease. Nat Genet. 2019;51(8):1215–21.CrossRefPubMed
9.
go back to reference Do TP, Remmers A, Schytz HW, Schankin C, Nelson SE, Obermann M, et al. Red and orange flags for secondary headaches in clinical practice: SNNOOP10 list. Neurology. 2019;92(3):134–44.CrossRefPubMedPubMedCentral Do TP, Remmers A, Schytz HW, Schankin C, Nelson SE, Obermann M, et al. Red and orange flags for secondary headaches in clinical practice: SNNOOP10 list. Neurology. 2019;92(3):134–44.CrossRefPubMedPubMedCentral
10.
go back to reference Thomsen AV, Sorensen MT, Ashina M, Hougaard A. Symptomatic migraine: A systematic review to establish a clinically important diagnostic entity. Headache. 2021;61(8):1180–93.CrossRefPubMed Thomsen AV, Sorensen MT, Ashina M, Hougaard A. Symptomatic migraine: A systematic review to establish a clinically important diagnostic entity. Headache. 2021;61(8):1180–93.CrossRefPubMed
11.
go back to reference Vermilion J, Johnson M, Srinivasan J, Mink JW. Neuronal Intranuclear Inclusion Disease: Longitudinal Case Report of Motor and Nonmotor Symptoms. J Child Neurol. 2019;34(13):801–5.CrossRefPubMedPubMedCentral Vermilion J, Johnson M, Srinivasan J, Mink JW. Neuronal Intranuclear Inclusion Disease: Longitudinal Case Report of Motor and Nonmotor Symptoms. J Child Neurol. 2019;34(13):801–5.CrossRefPubMedPubMedCentral
12.
go back to reference Lindenberg R, Rubinstein LJ, Herman MM, Haydon GB. A light and electron microscopy study of an unusual widespread nuclear inclusion body disease. A possible residuum of an old herpesvirus infection. Acta Neuropathol. 1968;10(1):54–73.CrossRefPubMed Lindenberg R, Rubinstein LJ, Herman MM, Haydon GB. A light and electron microscopy study of an unusual widespread nuclear inclusion body disease. A possible residuum of an old herpesvirus infection. Acta Neuropathol. 1968;10(1):54–73.CrossRefPubMed
13.
go back to reference Liu X, Liu X, Du Y, Lin Y, Li C, Liu C, et al. A case of recurrent vomiting: extending the spectrum of neuronal intranuclear inclusion disease. Neurol Sci. 2019;40(12):2661–4.CrossRefPubMed Liu X, Liu X, Du Y, Lin Y, Li C, Liu C, et al. A case of recurrent vomiting: extending the spectrum of neuronal intranuclear inclusion disease. Neurol Sci. 2019;40(12):2661–4.CrossRefPubMed
14.
go back to reference Takahashi-Fujigasaki J. Neuronal intranuclear hyaline inclusion disease. Neuropathology. 2003;23(4):351–9.CrossRefPubMed Takahashi-Fujigasaki J. Neuronal intranuclear hyaline inclusion disease. Neuropathology. 2003;23(4):351–9.CrossRefPubMed
15.
go back to reference Ehrlich ME, Ellerby LM. Neuronal intranuclear inclusion disease: Polyglycine protein is the culprit. Neuron. 2021;109(11):1757–60.CrossRefPubMed Ehrlich ME, Ellerby LM. Neuronal intranuclear inclusion disease: Polyglycine protein is the culprit. Neuron. 2021;109(11):1757–60.CrossRefPubMed
16.
go back to reference Yokoi S, Yasui K, Hasegawa Y, Niwa K, Noguchi Y, Tsuzuki T, et al. Pathological background of subcortical hyperintensities on diffusion-weighted images in a case of neuronal intranuclear inclusion disease. Clin Neuropathol. 2016;35(6):375–80.CrossRefPubMed Yokoi S, Yasui K, Hasegawa Y, Niwa K, Noguchi Y, Tsuzuki T, et al. Pathological background of subcortical hyperintensities on diffusion-weighted images in a case of neuronal intranuclear inclusion disease. Clin Neuropathol. 2016;35(6):375–80.CrossRefPubMed
17.
go back to reference Pelzer N, Hoogeveen ES, Ferrari MD, Poll-The BT, Kruit MC, Terwindt GM. Brain atrophy following hemiplegic migraine attacks. Cephalalgia. 2018;38(6):1199–202.CrossRefPubMed Pelzer N, Hoogeveen ES, Ferrari MD, Poll-The BT, Kruit MC, Terwindt GM. Brain atrophy following hemiplegic migraine attacks. Cephalalgia. 2018;38(6):1199–202.CrossRefPubMed
18.
go back to reference Pellerin A, Marois C, Mezouar N, Mokhtari K, Leclercq D, Law-Ye B. Neuronal injuries evidenced by transient cortical magnetic resonance enhancement in hemiplegic migraine: A case report. Cephalalgia. 2019;39(2):323–5.CrossRefPubMed Pellerin A, Marois C, Mezouar N, Mokhtari K, Leclercq D, Law-Ye B. Neuronal injuries evidenced by transient cortical magnetic resonance enhancement in hemiplegic migraine: A case report. Cephalalgia. 2019;39(2):323–5.CrossRefPubMed
19.
go back to reference Stubberud A, Flaaen NM, McCrory DC, Pedersen SA, Linde M. Flunarizine as prophylaxis for episodic migraine: a systematic review with meta-analysis. Pain. 2019;160(4):762–72.CrossRefPubMed Stubberud A, Flaaen NM, McCrory DC, Pedersen SA, Linde M. Flunarizine as prophylaxis for episodic migraine: a systematic review with meta-analysis. Pain. 2019;160(4):762–72.CrossRefPubMed
20.
go back to reference Francis MV, Singh S, Goyal V, Keny M. Flunarizine: a review of its role in migraine prophylaxis. International J Res Med Sci. 2020;8(2):1.CrossRef Francis MV, Singh S, Goyal V, Keny M. Flunarizine: a review of its role in migraine prophylaxis. International J Res Med Sci. 2020;8(2):1.CrossRef
Metadata
Title
Recurrent headache and visual symptoms in a young man: a rare neuronal intranuclear inclusion disease case report
Authors
Ning Su
He-Jiao Mao
Chen-Hui Mao
Li-Ying Cui
Yi-Cheng Zhu
Yan Zhou
Jun Ni
Publication date
01-12-2022
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2022
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/s12883-022-02936-3

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