Adult-onset neuronal intranuclear inclusion disease presenting with typical MRI changes.
Autonomic Nervous System Diseases
/ diagnosis
Biopsy
/ methods
Brain
/ diagnostic imaging
Brain Diseases
/ diagnosis
Diagnosis, Differential
Diffusion Magnetic Resonance Imaging
/ methods
Electrodiagnosis
/ methods
Humans
Intranuclear Inclusion Bodies
/ pathology
Male
Middle Aged
Myelin Sheath
/ pathology
Neurodegenerative Diseases
/ complications
Skin
/ pathology
acute encephalopathy syndrome
magnetic resonance imaging
neuronal intranuclear inclusion disease
Journal
Brain and behavior
ISSN: 2162-3279
Titre abrégé: Brain Behav
Pays: United States
ID NLM: 101570837
Informations de publication
Date de publication:
12 2019
12 2019
Historique:
received:
15
03
2019
revised:
11
09
2019
accepted:
15
10
2019
pubmed:
22
11
2019
medline:
20
6
2020
entrez:
22
11
2019
Statut:
ppublish
Résumé
This study aims to analyze the clinical, imaging, electrophysiological, and dermatopathological features of a patient with adult-onset neuronal intranuclear inclusion disease (NIID) and to explore the diagnostic methods of adult-onset NIID. We here report a 63-year-old male with recurrent acute encephalopathy syndrome and autonomic nervous system damage syndrome characterized by sexual dysfunction and urinary and fecal dysfunction. Cranial diffusion-weighted magnetic resonance imaging (DWI) demonstrated symmetrically distributed strip-shaped high-intensity signal in bilateral fronto-occipital-parietal cortical-medullary junction. Electrophysiological test revealed that the main site of injury was myelin sheath in both motor and sensory nerves. Skin biopsy revealed eosinophilic spherical inclusion bodies in the nucleus of sweat gland epithelial cells. This case suggests that adult NIID is a chronic neurodegenerative disease with high clinical heterogeneity. Subcortical strip-shaped high-intensity signal on DWI has high diagnostic significance. Eosinophilic intranuclear inclusion bodies detected by skin biopsy contribute to diagnosis.
Sections du résumé
BACKGROUND
This study aims to analyze the clinical, imaging, electrophysiological, and dermatopathological features of a patient with adult-onset neuronal intranuclear inclusion disease (NIID) and to explore the diagnostic methods of adult-onset NIID.
CASE PRESENTATION
We here report a 63-year-old male with recurrent acute encephalopathy syndrome and autonomic nervous system damage syndrome characterized by sexual dysfunction and urinary and fecal dysfunction. Cranial diffusion-weighted magnetic resonance imaging (DWI) demonstrated symmetrically distributed strip-shaped high-intensity signal in bilateral fronto-occipital-parietal cortical-medullary junction. Electrophysiological test revealed that the main site of injury was myelin sheath in both motor and sensory nerves. Skin biopsy revealed eosinophilic spherical inclusion bodies in the nucleus of sweat gland epithelial cells.
CONCLUSION
This case suggests that adult NIID is a chronic neurodegenerative disease with high clinical heterogeneity. Subcortical strip-shaped high-intensity signal on DWI has high diagnostic significance. Eosinophilic intranuclear inclusion bodies detected by skin biopsy contribute to diagnosis.
Identifiants
pubmed: 31749292
doi: 10.1002/brb3.1477
pmc: PMC6908888
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e01477Informations de copyright
© 2019 The Authors. Brain and Behavior published by Wiley Periodicals, Inc.
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