Memory Loss and Frontal Cognitive Dysfunction in a Patient with Adult-onset Neuronal Intranuclear Inclusion Disease

Araki, Kunihiko; Sone, Jun; Fujioka, Yusuke; Masuda, Mitsuharu; Ohdake, Reiko; Tanaka, Yasuhiro; Nakamura, Tomohiko; Watanabe, Haruo; Sobue, Gen

doi:10.2169/internalmedicine.55.5544

Cited by 29 publications

(32 citation statements)

References 23 publications

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“…One previous case reported a reduced level of consciousness and recurrent vomiting, though the patient's symptoms continued to progress, which differs from our case [11]. Although multiple reversible encephalitic attacks have been described in case reports previously, some symptoms such as dysarthria recovered completely afterwards, but there were some residual symptoms such as impaired memory and word recall, saccadic pursuit eye movements and mild weakness of the left lower extremity [12][13][14]. In this case, we report a patient with NIID who presented with recurrent loss of consciousness and cognitive impairment that completely recovered within a short time.…”

Section: Discussioncontrasting

confidence: 65%

Multiple reversible encephalitic attacks: a rare manifestation of neuronal intranuclear inclusion disease

et al. 2020

BMC Neurol

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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.

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Section: Discussioncontrasting

confidence: 65%

Multiple reversible encephalitic attacks: a rare manifestation of neuronal intranuclear inclusion disease

et al. 2020

BMC Neurol

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“…Of the diagnosis of the 50 cases with NIID reviewed, 20 were confirmed by skin biopsy, 15 by autopsy, 10 by rectal biopsy, 1 by colon biopsy, 1 by both the skin and the rectal biopsy, and 3 reports made no mention of the pathology (Table ) . There were 31 patients with MRI records, including 23 patients with brain atrophy (23/31, 74.19%).…”

Section: Resultsmentioning

confidence: 99%

Interrelated Pathogenesis? Neuronal Intranuclear Inclusion Disease Combining With Hemiplegic Migraine

Wang

Nie

et al. 2019

Headache

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Background.-Neuronal intranuclear inclusion disease (NIID) is considered a heterogeneous disease because of its highly variable clinical manifestations. To date, there are no reports of NIID patients presenting with hemiplegic migraine (HM)-like headache, or of HM and NIID co-occurring as comorbidity, and the connection between these 2 seemingly unrelated clinical conditions has yet to be established.Method.-We present a patient with NIID who was previously diagnosed with HM. To determine the pathogenesis of HM in this NIID patient, we systematically reviewed published NIID and HM cases and cataloged them based on their clinical manifestations.Result.-The clinical manifestations of NIID is highly various; however, there is no case reported to date that shows HMlike symptoms or cerebral edema. All documented symptomatic HM cases show vascular dysfunction to various degrees, but none of them has been shown to be correlated with NIID. Conclusion.-Our patient is the first documented case in which HM and NIID occur simultaneously. Vascular dysfunctions that cause cerebral hypoperfusion and glucose hypometabolism, two of the dominant causes of symptomatic HM, may be associated with the accumulation of eosinophilic hyaline inclusions that cause NIID. However, the existence of inclusions may also alter neuronal behavior and indirectly cause cerebral hypoperfusion and glucose hypometabolism. Further research andobservations are needed to examine the relationship between HM and NIID. Key words: hemiplegic migraine, sporadic hemiplegic migraine, neuronal intranuclear inclusion disease Abbreviations: CNS central nervous system, CSF cerebrospinal fluid, CT computed tomography, DWI diffusion-weighted imaging, EEG electroencephalography, FHM familial hemiplegic migraine, HM hemiplegic migraine, ICHD International Classification of Headache Disorders, MRA magnetic resonance angiography, MRI magnetic resonance imaging, NIID neuronal intranuclear inclusion disease, PET positron emission tomography, PWI perfusion-weighted imaging, SHM sporadic hemiplegic migraine, SWI susceptibility weighted imaging (Headache 2020;60:382-395) Headache

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“…However, abnormal signals in the above regions were not displayed on the DWI sequence. This imaging change was considered to be associated with the presence of chronic persistent hypoperfusion‐induced cytogenic and angiogenic edema in the patient's brain (Araki et al, ). A previous study confirmed that symmetrically distributed strip‐shaped high‐intensity signals in bilateral fronto‐occipital‐parietal cortical‐medullary junction on DWI tended to extend backwards as the disease progressed and did not disappear over time (Sone et al, ).…”

Section: Discussionmentioning

confidence: 99%

Adult‐onset neuronal intranuclear inclusion disease presenting with typical MRI changes

Han¹,

Han²,

Liu³

et al. 2019

Brain and Behavior

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BackgroundThis 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 presentationWe 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.ConclusionThis 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.

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Memory Loss and Frontal Cognitive Dysfunction in a Patient with Adult-onset Neuronal Intranuclear Inclusion Disease

Cited by 29 publications

References 23 publications

Multiple reversible encephalitic attacks: a rare manifestation of neuronal intranuclear inclusion disease

Multiple reversible encephalitic attacks: a rare manifestation of neuronal intranuclear inclusion disease

Interrelated Pathogenesis? Neuronal Intranuclear Inclusion Disease Combining With Hemiplegic Migraine

Adult‐onset neuronal intranuclear inclusion disease presenting with typical MRI changes

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