scholarly journals An unusual Neuronal Intranuclear Inclusion Disease with Chief Complaint of Autonomic Dysfunction

2019 ◽  
Author(s):  
Xiaoyun Liu ◽  
Xiaohui Liu ◽  
Yifeng Du ◽  
Chunxia Li ◽  
Cuicui liu ◽  
...  
Keyword(s):  
Brain Magnetic Resonance Imaging ◽  
Intranuclear Inclusions ◽  
Resonance Imaging ◽  
Dominant Group ◽  
Intranuclear Inclusion ◽  
Case Presentation ◽  
Level Of Consciousness ◽  
Recurrent Vomiting ◽  
Neuronal Intranuclear Inclusion ◽  
Magnetic Resonance Imaging Mri

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a recently defined disease entity of progressive neurodegenerative disease with characterizations of eosinophilic hyaline intranuclear inclusions in neuronal and somatic cells. The sporadic adult-onset NIID cases were previous described as ‘dementia dominant group’. Here we present a NIID case manifested prominently with recurrent vomiting. Case presentation A 60-year-old women present with paroxysmal vomiting, hypertention and decreased level of consciousness for 3 years. She was diagnosed with NIID based on history, clinical features, brain magnetic resonance imaging(MRI), skin biopsy. Conclusion Autonomic symptoms may manifest as the initial and predominant presentation of NIID. This case presentation may extend the spectrum of NIID and may give new insights in exploring the pathogenic mechanisms of NIID.

scholarly journals A Case report of Recurrent Vomiting: Extending the Spectrum of Neuronal Intranuclear Inclusion Disease

2019 ◽  
Author(s):  
Xiaoyun Liu ◽  
Xiaohui Liu ◽  
Yifeng Du ◽  
Chunxia Li ◽  
Cuicui liu ◽  
...  
Keyword(s):  
Brain Magnetic Resonance Imaging ◽  
Intranuclear Inclusions ◽  
Resonance Imaging ◽  
Dominant Group ◽  
Intranuclear Inclusion ◽  
Case Presentation ◽  
Level Of Consciousness ◽  
Recurrent Vomiting ◽  
Neuronal Intranuclear Inclusion ◽  
Magnetic Resonance Imaging Mri

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a recently defined disease entity of progressive neurodegenerative disease with characterizations of eosinophilic hyaline intranuclear inclusions in neuronal and somatic cells. The sporadic adult-onset NIID cases were previous described as ‘dementia dominant group’. Here we present a NIID case manifested prominently with recurrent vomiting. Case presentation A 60-year-old women present with paroxysmal vomiting, hypertention and decreased level of consciousness for 3 years. She was diagnosed with NIID based on history, clinical features, brain magnetic resonance imaging(MRI), skin biopsy. Conclusion Autonomic symptoms may manifest as the initial and predominant presentation of NIID. This case presentation may extend the spectrum of NIID and may give new insights in exploring the pathogenic mechanisms of NIID.

scholarly journals Coexistence of neuronal intranuclear inclusion disease and amyotrophic lateral sclerosis: an autopsy case

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Atsuhiko Sugiyama ◽  
Takahiro Takeda ◽  
Mizuho Koide ◽  
Hajime Yokota ◽  
Hiroki Mukai ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neurons ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Repeat Expansion ◽  
Cerebellar Hemisphere ◽  
Intranuclear Inclusions ◽  
Intranuclear Inclusion ◽  
Neuronal Intranuclear Inclusion ◽  
Lateral Sclerosis

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease. Pathologically, it is characterized by eosinophilic hyaline intranuclear inclusions in the cells of the visceral organs as well as central, peripheral, and autonomic nervous system cells. Recently, a GGC repeat expansion in the NOTCH2NLC gene has been identified as the etiopathological agent of NIID. Interestingly, this GGC repeat expansion was also reported in some patients with a clinical diagnosis of amyotrophic lateral sclerosis (ALS). However, there are no autopsy-confirmed cases of concurrent NIID and ALS. Case presentation A 60-year-old Taiwanese woman reported a four-month history of progressive weakness beginning in the right foot that spread to all four extremities. She was diagnosed with ALS because she met the revised El Escorial diagnostic criteria for definite ALS with upper and lower motor neuron involvement in the cervical, thoracic, and lumbosacral regions. She died of respiratory failure at 22 months from ALS onset, at the age of 62 years. Brain magnetic resonance imaging (MRI) revealed lesions in the medial part of the cerebellar hemisphere, right beside the vermis (paravermal lesions). The subclinical neuropathy, indicated by a nerve conduction study (NCS), prompted a potential diagnosis of NIID. Antemortem skin biopsy and autopsy confirmed the coexistence of pathology consistent with both ALS and NIID. We observed neither eccentric distribution of p62-positive intranuclear inclusions in the areas with abundant large motor neurons nor cytopathological coexistence of ALS and NIID pathology in motor neurons. This finding suggested that ALS and NIID developed independently in this patient. Conclusions We describe a case of concurrent NIID and ALS discovered during an autopsy. Abnormal brain MRI findings, including paravermal lesions, could indicate the coexistence of NIID even in patients with ALS showing characteristic clinical phenotypes.

scholarly journals Neuronal intranuclear inclusion disease presented with recurrent vestibular migraine-like attack: a case presentation

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Danhua Zhao ◽  
Sha Zhu ◽  
Qinlan Xu ◽  
Jianwen Deng ◽  
Zhaoxia Wang ◽  
...  
Keyword(s):  
Neurodegenerative Disorder ◽  
Brain Magnetic Resonance Imaging ◽  
Vestibular Migraine ◽  
Sweat Glands ◽  
Intranuclear Inclusion ◽  
Case Presentation ◽  
Disturbance Of Consciousness ◽  
Corticomedullary Junction ◽  
Electrophysiological Studies ◽  
Neuronal Intranuclear Inclusion

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder characterized by dementia, tremor, episodic encephalopathy and autonomic nervous dysfunction. To date, vestibular migraine (VM)-like attack has never been reported in cases with NIID. Here, we describe an 86-year-old patient with NIID who presented with recurrent vertigo associated with headache for more than 30 years. Case presentation An 86-year-old Chinese woman with vertigo, headache, weakness of limbs, fever, and disturbance of consciousness was admitted to our hospital. She had suffered from recurrent vertigo associated with headache since her 50 s,followed by essential tremor and dementia. On this admission, brain magnetic resonance imaging revealed high intensity signals along the corticomedullary junction on diffusion weighted imaging (DWI). Peripheral neuropathy of the extremities was detected through electrophysiological studies. We diagnosed NIID after detecting eosinophilic intranuclear inclusions in the ductal epithelial cells of sweat glands and identifying an abnormal expansion of 81 GGC repeats in the 5’UTR of NOTCH2NLC gene. Conclusions VM-like attack may be associated with NIID.

scholarly journals Neuronal intranuclear inclusion disease with mental abnormality: a case report

BMC Neurology ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Xiaosa Chi ◽  
Man Li ◽  
Ting Huang ◽  
Kangyong Tong ◽  
Hongyi Xing ◽  
...  
Keyword(s):  
Neurodegenerative Disease ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Clinical Work ◽  
Intranuclear Inclusions ◽  
Intranuclear Inclusion ◽  
Corticomedullary Junction ◽  
Normal White Blood Cell ◽  
Neuronal Intranuclear Inclusion ◽  
The Brain

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a chronic progressive neurodegenerative disease that is characterized by the discovery of eosinophilic hyaline intranuclear inclusions in the central and peripheral nervous systems and visceral organs. In this paper, we report a case of an adult-onset neuronal intranuclear inclusion disease presenting with mental abnormality in China. Case presentation A 62-year-old woman presented with mental abnormality and forgetfulness for 3 months before she was admitted to our hospital. There were prodromal symptoms of fever before she had the mental disorder. Encephalitis was first suspected, and the patient underwent lumbar puncture and brain magnetic resonance imaging (MRI). A cerebrospinal fluid (CSF) examination indicated normal pressure, a normal white blood cell count, and slightly elevated protein and glucose levels. Coxsackie B virus, enterovirus, and cytomegalovirus tests showed normal results. Bacterial culture and Cryptococcus neoformans test results were negative. The contrast-enhanced MRI of the brain was normal. The brain diffusion-weighted imaging (DWI) showed a symmetrically distributed strip-shaped hyperintensity signal of the corticomedullary junction in the bilateral frontal, parietal, and temporal lobes. We considered the diagnosis of the NIID, and therefore, skin biopsy was performed. The electron microscopy revealed that intranuclear inclusions in the nucleus of fibrocytes existed and were composed of filaments. Conclusions NIID is a rare neurodegenerative disease with diverse clinical manifestations. In clinical work, when a patient presents with abnormal mental behavior and exhibits hyperintensity signals on DWI images of the corticomedullary junction, it is crucial to consider the diagnosis of NIID.

scholarly journals Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Mohamad Paktinat ◽  
Kamran Hessami ◽  
Soroor Inaloo ◽  
Hamid Nemati ◽  
Pegah Katibeh ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Late Presentation ◽  
Resonance Imaging ◽  
Case Presentation ◽  
Delay In Diagnosis ◽  
Acute Necrotizing Encephalopathy ◽  
High Clinical Suspicion ◽  
Level Of Consciousness ◽  
Acute Necrotizing ◽  
Magnetic Resonance Imaging Mri

Introduction. Acute necrotizing encephalopathy (ANE), a rare entity with unique clinical presentation, can be associated significant morbidity and mortality. The majority of ANE reported cases are sporadic. However, reports of extremely rare familial cases are scarce. Case Presentation. We described three cases, two siblings and their cousin, affected by ANE, all of them exhibiting RAN-binding protein 2 (RANBP2) gene mutation. They all presented with seizure and decreased level of consciousness. Unlike the siblings, the cousin eventually expired mainly due to the delay in diagnosis, resulting from late presentation of typical brain involvements of ANE in magnetic resonance imaging (MRI). Conclusion. The presented cases are the first reports of familial ANE in Iran. Attempt was made to raise awareness on this disease, because high clinical suspicion plays an important role in the early diagnosis and proper management of these patients.

scholarly journals Laparoscopic surgical management of a mature presacral teratoma: a case report

2019 ◽  
Vol 5 (1) ◽  
Author(s):  
Liming Wang ◽  
Yasumitsu Hirano ◽  
Toshimasa Ishii ◽  
Hiroka Kondo ◽  
Kiyoka Hara ◽  
...  
Keyword(s):  
Laparoscopic Resection ◽  
Mature Teratoma ◽  
Skin Incision ◽  
Histopathological Diagnosis ◽  
Tailgut Cyst ◽  
Resonance Imaging ◽  
Presumptive Diagnosis ◽  
Case Presentation ◽  
Contrast Enhanced ◽  
Magnetic Resonance Imaging Mri

Abstract Background Mature presacral (retrorectal) teratoma is very rare. We report a case in which a mature retrorectal teratoma in an adult was successfully treated with laparoscopic surgery. Case presentation A 44-year-old woman was diagnosed with a presacral tumor during a physical examination. Endoscopic ultrasonography (EUS) revealed a multilocular cystic lesion; the lesion was on the left side of the posterior rectum and measured approximately 30 mm in diameter on both contrast-enhanced pelvic computed tomography (CT) and magnetic resonance imaging (MRI). The presumptive diagnosis was tailgut cyst. However, the histopathological diagnosis after laparoscopic resection was mature teratoma. It is still difficult to preoperatively diagnose mature retrorectal teratomas. Conclusions Laparoscopic resection of mature retrorectal teratomas is a feasible and promising method that is less invasive and can be adapted without extending the skin incision.

scholarly journals Identifying a Common Functional Framework for Apathy Large-Scale Brain Network

2021 ◽  
Vol 11 (7) ◽  
pp. 679
Author(s):  
Vincenzo Alfano ◽  
Mariachiara Longarzo ◽  
Giulia Mele ◽  
Marcello Esposito ◽  
Marco Aiello ◽  
...  
Keyword(s):  
Large Scale ◽  
Brain Magnetic Resonance Imaging ◽  
Brain Network ◽  
Neural Pathways ◽  
Resonance Imaging ◽  
Daily Life Activities ◽  
Functional Differences ◽  
Central Gyrus ◽  
Magnetic Resonance Imaging Mri ◽  
Disease Specific

Apathy is a neuropsychiatric condition characterized by reduced motivation, initiative, and interest in daily life activities, and it is commonly reported in several neurodegenerative disorders. The study aims to investigate large-scale brain networks involved in apathy syndrome in patients with frontotemporal dementia (FTD) and Parkinson’s disease (PD) compared to a group of healthy controls (HC). The study sample includes a total of 60 subjects: 20 apathetic FTD and PD patients, 20 non apathetic FTD and PD patients, and 20 HC matched for age. Two disease-specific apathy-evaluation scales were used to measure the presence of apathy in FTD and PD patients; in the same day, a 3T brain magnetic resonance imaging (MRI) with structural and resting-state functional (fMRI) sequences was acquired. Differences in functional connectivity (FC) were assessed between apathetic and non-apathetic patients with and without primary clinical diagnosis revealed, using a whole-brain, seed-to-seed approach. A significant hypoconnectivity between apathetic patients (both FTD and PD) and HC was detected between left planum polare and both right pre- or post-central gyrus. Finally, to investigate whether such neural alterations were due to the underlying neurodegenerative pathology, we replicated the analysis by considering two independent patients’ samples (i.e., non-apathetic PD and FTD). In these groups, functional differences were no longer detected. These alterations may subtend the involvement of neural pathways implicated in a specific reduction of information/elaboration processing and motor outcome in apathetic patients.

scholarly journals Lymphangiography and focal pleurodesis treatment of chylothorax with an aberrant thoracic duct following oesophagectomy: a case report

2019 ◽  
Vol 5 (1) ◽  
Author(s):  
Tomoyuki Ishida ◽  
Jun Kanamori ◽  
Hiroyuki Daiko
Keyword(s):  
Magnetic Resonance Imaging ◽  
Interventional Radiology ◽  
Case Report ◽  
Magnetic Resonance ◽  
Thoracic Duct ◽  
Rare Case ◽  
Resonance Imaging ◽  
Case Presentation ◽  
Thoracostomy Tube ◽  
Magnetic Resonance Imaging Mri

Abstract Background Management of postoperative chylothorax usually consists of nutritional regimens, pharmacological therapies such as octreotide, and surgical therapies such as ligation of thoracic duct, but a clear consensus is yet to be reached. Further, the variation of the thoracic duct makes chylothorax difficult to treat. This report describes a rare case of chylothorax with an aberrant thoracic duct that was successfully treated using focal pleurodesis through interventional radiology (IVR). Case presentation The patient was a 52-year-old man with chylothorax after a thoracoscopic oesophagectomy for oesophageal cancer. With conventional therapy, such as thoracostomy tube, octreotide or fibrogammin, a decrease in the amount of chyle was not achieved. Therefore, we performed lymphangiography and pleurodesis through IVR. The patient appeared to have an aberrant thoracic duct, as revealed by magnetic resonance imaging (MRI); however, after focal pleurodesis, the leak of chyle was diminished, and the patient was discharged 66 days after admission. Conclusions Chylothorax remains a difficult complication. Focal pleurodesis through IVR can be one of the options to treat chylothorax.

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