Absence of diffusion-weighted imaging abnormalities in a patient with neuronal intranuclear inclusion disease.
Encephalitic episode
Fragile X-associated tremor/ataxia syndrome
NOTCH2NLC
Neuronal intranuclear inclusion disease
Journal
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
ISSN: 1590-3478
Titre abrégé: Neurol Sci
Pays: Italy
ID NLM: 100959175
Informations de publication
Date de publication:
Nov 2022
Nov 2022
Historique:
received:
18
04
2022
accepted:
28
06
2022
pubmed:
16
7
2022
medline:
2
11
2022
entrez:
15
7
2022
Statut:
ppublish
Résumé
Herein, we report a genetically confirmed case of neuronal intranuclear inclusion disease without characteristic subcortical hyperintensities on diffusion-weighted imaging. A 75-year-old man was admitted to our hospital with subacute onset of conscious disturbance. Except for gastric cancer, he had no apparent past medical or family history. He presented with transient fever, vomiting, and urinary retention. On admission, no apparent abnormal intensity was detected on diffusion-weighted imaging. The symptoms improved within 10 days, without any medical treatment. Additional inspections were performed under suspicion of neuronal intranuclear inclusion disease. Intranuclear inclusions were found not only from skin biopsy but also from his stomach specimens, which had been resected 6 years previously. Subsequent genetic testing revealed repeat expansion of GGC amplification in NOTCH2NLC. Characteristic neuroimaging and skin biopsy findings are important clues for diagnosing neuronal intranuclear inclusion diseases. Nonetheless, confirming a diagnosis is difficult due to the diversity of clinical manifestations and radiological features. Clinicians should suspect neuronal intranuclear inclusion disease in patients with transient encephalitic episodes, even if no abnormalities are detected on diffusion-weighted imaging.
Identifiants
pubmed: 35838850
doi: 10.1007/s10072-022-06252-z
pii: 10.1007/s10072-022-06252-z
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
6551-6554Subventions
Organisme : Japan Society for the Promotion of Science
ID : KAKENHI JP19H03577
Organisme : MHLW FC Program
ID : JPMH19189624
Informations de copyright
© 2022. Fondazione Società Italiana di Neurologia.
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