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

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.

The Value of NOTCH2NLC Gene Detection and Skin Biopsy in the Diagnosis of Neuronal Intranuclear Inclusion Disease

“…Among our patients, two patients even consulted the doctor with headache as the earliest and main clinical symptom. Hemiplegic migraine was once reported as rare clinical manifestations in 2019, no other types of headache were reported yet (18)(19)(20). However, the previous literature rarely included headache among the common symptoms of NIID.…”

Adult-onset neuronal intranuclear inclusion disease, with both stroke-like onset and encephalitic attacks: a case report

“…1 MRI scans on the 5th day after admission: a The T2/FLAIR sequence: the arrow refers to abnormal signals in the white matter region of the brain, b DWI imaging: the arrow refers to high intensity areas in the cerebral white matter and grey matter-white matter junction; the MRI was conducted on the 20th day after admission: c The T2/FLAIR sequence: the arrow refers to abnormal signals in the white matter region of the brain, d DWI imaging: the arrow refers to high intensity areas in the cerebral white matter and grey matter-white matter junction. Cranial computed tomography scans showed a low-density lesion in the white matter, area-brain atrophy, and leucoencephalopathy: e in 2012, f in 2018, and g this hospitalization weakness, and Li et al reported a patient with multiple reversible encephalitic attacks, with light-headed episodes, central facial paralysis, unstable gait, aphasia, nausea, vomiting and loss of consciousness [16,17]. However, no cases have yet been reported with strokelike onset symptoms and encephalitic attacks.…”

Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases

“…However, NIID symptoms are highly heterogenous, and overlap between subgroups is observed frequently, with variable muscle weakness associated with various dysfunctions of the central and peripheral nervous systems, which can include progressive dementia and cognitive impairment, parkinsonism, cerebellar ataxia, sensory disturbance, autonomic dysfunction, and/or peripheral neuropathy ( Takahashi-Fujigasaki, 2003 ; Sone et al., 2016 ; Takahashi-Fujigasaki et al., 2016 ). Moreover, individuals with NIID with atypical presentation, such as essential tremors, multiple-systems atrophy, and amyotrophic lateral sclerosis, and various acute symptoms, including stroke-like episodes, epileptic seizures, and/or encephalitic episodes, have also been reported ( Sone et al., 2016 ; Fang et al., 2020 ; Li et al., 2020 ; Sun et al., 2020 ; Yuan et al., 2020 ). As a consequence of these diverse ages of onset and clinical presentations, NIID diagnosis is most often confirmed by the widespread presence of characteristic eosinophilic intranuclear inclusions in neurons and glial cells in the central and peripheral nervous systems and in various other tissues ( Chen et al., 2020a , Liu et al., 2008 , Sone et al., 2005 , Sone et al., 2011 , Sone et al., 2014 ).…”