Neuronal intranuclear inclusion disease with prolonged impaired consciousness and status epilepticus: a case report

Abstract

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease presenting with various manifestations including dementia, weakness, transient impaired consciousness, encephalitis-like episodes and also epileptic seizures. However, the nature of epileptic seizures, focal or generalized onset, remains unclear. A man at age 76 was admitted to a local hospital due to febrile impaired consciousness lasting several days. During the hospital stay, a generalized convulsion occurred, and afterward he remained obtunded. He was transferred to our hospital for further treatment. One additional seizure occurred while on an ambulance to our hospital and two additional seizures shortly after the arrival, which indicated convulsive status epilepticus (SE). The ictal EEG showed low amplitude fast activity arising from the left centro-parietal area with an evolutionary pattern. The clinical concomitant was the contralateral versive seizure evolving to a bilateral convulsion. Inter-ictal epileptiform abnormalities seen on the tracings taken on later days consisted of brief potentially ictal rhythmic discharges (B(I)RDs) and frequent sharp waves recorded from both frontal areas. These findings along with the ictal discharges would indicate a multifocal epileptic disorder in this patient. Diffusion weighted images (DWIs) of this patient showed hyperintensity signals in the cortico-medullary junctions in the bilateral frontal and the left parietal regions. Skin biopsy revealed characteristic intranuclear inclusions, and hence the diagnosis of NIID was made. The regions of epileptic foci on EEG corresponded well to the hyperintensity areas in DWIs, which suggests the cerebral cortices near the DWI hyperintensity could be more hyperactive than other regions. This case report suggests that some of the prolonged impaired consciousness and the encephalitis-like episodes in NIID could be related to epileptic seizures and even non-convulsive SE or a post-ictal twilight state after an unwitnessed convulsion. This issue should be further studied for the appropriate treatment of episodic encephalopathy and epileptic seizures in NIID.

Rapidly progressive adult-onset neuronal intranuclear inclusion disease beginning with autonomic symptoms: a case report

“…Sone et al ., summarized 38 sporadic adult-onset NIID cases, aged 51–76 years, with dementia onset as the main symptoms (94.7%), followed by limb tremor, ataxia, abnormal behavior, disturbance of consciousness, and encephalitis-like seizures ( 8 , 9 ). Others reported NIID with Parkinson-like symptoms ( 10 ), abnormal emotional behavior ( 11 ), chronic headache ( 12 ), sensory disturbance ( 13 ), epileptic episodes ( 14 ), cardiomyopathy, constipation and gastroenteritis, bronchopneumonia and respiratory failure ( 15 ), and dysphagia ( 12 ). However, there were no reports of early autonomic symptoms such as hypotension, pallor, profuse sweating, and syncope in patients with NIID.…”

Clinical and mechanism advances of neuronal intranuclear inclusion disease

“…Although progressive symptoms, such as cognitive impairment and parkinsonism, are key features of NIID as a neurodegenerative disease, episodic attacks are also found in some patients with NIID, such as encephalitis-like, vestibular migraine-like attacks, or MELAS-like or epileptic episodes ( Xiao et al, 2018 ; Yamanaka et al, 2019 ; Ishihara et al, 2020 ; Li et al, 2020b ; Ataka et al, 2021 ; Zhao et al, 2021 ).…”

“…Although progressive symptoms, such as cognitive impairment and parkinsonism, are key features of NIID as a neurodegenerative disease, episodic attacks are also found in some patients with NIID, such as encephalitis-like, vestibular migraine-like attacks, or MELAS-like or epileptic episodes (Xiao et al, 2018;Yamanaka et al, 2019;Ishihara et al, 2020;Li et al, 2020b;Ataka et al, 2021;. Han et al (2019) reported a 63-year-old male with NIID who had recurrent acute encephalopathy syndrome, including recurrent headaches, personality changes, and abnormal mental behavior for 3 years.…”

Typical imaging manifestation of neuronal intranuclear inclusion disease in a man with unsteady gait: A case report

“…NIID may be familial or sporadic, juvenile-onset (even infantile-onset), or adult-onset. NIID mostly has a chronic course, but acute attacks of headaches[ 1 ], epilepsy[ 2 ], and stroke-like[ 3 ] onset have also been reported. Sone et al [ 4 ] divided adult-onset NIID into two groups.…”