scholarly journals Case Report: Neuronal Intranuclear Inclusion Disease With Oromandibular Dystonia Onset

2021 ◽  
Vol 12 ◽  
Author(s):  
Wei-Ping Deng ◽  
Zhao Yang ◽  
Xiao-Jun Huang ◽  
Jing-Wen Jiang ◽  
Xing-Hua Luan ◽  
...  
Keyword(s):  
Case Report ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Memory Loss ◽  
Nerve Degeneration ◽  
White Matter Hyperintensity ◽  
Oromandibular Dystonia ◽  
Intranuclear Inclusion ◽  
Inversion Recovery Imaging ◽  
Neuronal Intranuclear Inclusion

Background: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease. Because of variable clinical manifestations, NIID was often misdiagnosed. According to published case reports, the common clinical manifestations of NIID include dementia, muscle weakness, autonomic impairment, sensory disturbance, rigidity, ataxia convulsions, etc. However, no cases of oromandibular dystonia were mentioned.Case Presentation: We describe a case of a 58-year-old woman presenting with mouth involuntary chewing initially. She started to show hand tremors, ataxia, and walking instability until 2 years later. Diffusion-weighted imaging showed high intensity signal along the corticomedullary junction. Fluid-attenuated inversion recovery imaging showed white matter hyperintensity. Electromyography (EMG) indicated peripheral nerve degeneration. Neuropsychological testing showed memory loss. Finally, skin biopsy and GGC repeat expansions in the NOTCH2NLC (Notch 2 N-terminal like C) gene confirmed the diagnosis of NIID.Conclusion: This case demonstrated that oromandibular dystonia could be the first symptom of NIID. This case report provides new characteristics of NIID and broadens its clinical spectrum.

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

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ying Huang ◽  
Ge Jin ◽  
Qun-ling Zhan ◽  
Yun Tian ◽  
Lu Shen
Keyword(s):  
Case Report ◽  
Clinical Characteristics ◽  
Spherical Inclusion ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
High Signal ◽  
Autonomic Nerves ◽  
Intranuclear Inclusion ◽  
Main Site ◽  
Neuronal Intranuclear Inclusion

Abstract Background Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease, the clinical manifestations of which are complex and easily misdiagnosed. NIID clinical characteristics are varied, affecting the central and peripheral nervous systems and autonomic nerves. In this study, we present an NIID case with both stroke-like onset and encephalitic attacks, which is a rare case report. Case presentation A 68-year-old Chinese female presented with sudden aphasia and limb hemiplegia as the first symptoms, as well as fever, cognitive impairment and mental irritability from encephalitic attacks. During hospitalization, a brain magnetic resonance imaging (MRI) examination detected high signal intensity from diffusion-weighted imaging (DWI) of the bilateral frontal grey matter-white matter junction. Electrophysiological tests revealed the main site of injury was at the myelin sheath in the motor nerves. A skin biopsy revealed eosinophilic spherical inclusion bodies in the nuclei of small sweat gland cells, fibroblasts and fat cells, whilst immunohistochemistry revealed that p62 and ubiquitin antibodies were positive. From genetic analyses, the patient was not a carrier of the fragile X mental retardation 1 (FMR1) permutation, but repeated GGC sequences in the NOTCH2NLC gene confirmed an NIID diagnosis. Through antipsychotic and nutritional support therapy, the patient’s symptoms were completely relieved within 3 weeks. Conclusions This report of an NIID case with both stroke-like onset and encephalitic attacks provides new information for NIID diagnoses, and a comprehensive classification of clinical characteristics.

scholarly journals Arthritis in children with LRBA deficiency – case report and literature review

2019 ◽  
Vol 17 (1) ◽  
Author(s):  
Rotem Semo Oz ◽  
Melissa S. Tesher
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Rheumatic Disease ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Immune Dysregulation ◽  
Joint Involvement ◽  
Female Ratio ◽  
Minimal Data ◽  
Lrba Deficiency

Abstract Background Lipopolysaccharide (LPS)-responsive and beige like anchor (LRBA) deficiency is categorized as a subtype of common variable immune deficiency (CVID). A growing number of case reports and cohorts reveal a broad spectrum of clinical manifestations and variable phenotype expression, including immune dysregulation, enteropathy and recurrent infections. The association between rheumatic disease and CVID generally has been well established, arthritis has been less frequently reported and minimal data regarding its clinical features and characteristic in LRBA deficiency has been published. This case report and literature review evaluates the characteristics and features of arthritis in LRBA deficiency patients. Case presentation and review results Herein, we describe a unique case of LRBA deficiency first presented with poly articular arthritis. Alongside the report, a literature review focusing on LRBA deficiency, rheumatic disease and arthritis has been conducted. We reviewed 43 publications. Among these, 7 patients were identified with arthritis. Age of first presentation was six weeks to 3 years. Male to female ratio was 4/3. Two patients were diagnosed with polyarticular Juvenile idiopathic arthritis (JIA) and three with oligoarticular JIA. Each patient was found to have different genomic mutation. The treatment was diverse and included corticosteroids, cyclosporine, methotrexate, adalidumab and abatacept. Conclusion Joint involvement is variable in LRBA deficiency, hence it should always be kept in mind as a differential diagnosis for a patient with combination of juvenile arthritis and clinically atypical immune dysregulation and / or immunodeficiency.

scholarly journals Neuronal intranuclear inclusion disease mimicking acute cerebellitis: A case report

2020 ◽  
Vol 8 (23) ◽  
pp. 6122-6129
Author(s):  
Jiao-Jiao Guo ◽  
Zi-Yi Wang ◽  
Meng Wang ◽  
Zong-Zhi Jiang ◽  
Xue-Fan Yu
Keyword(s):  
Case Report ◽  
Intranuclear Inclusion ◽  
Acute Cerebellitis ◽  
Neuronal Intranuclear Inclusion

scholarly journals Left Renal Vein Thrombus and Pulmonary Thromboembolism Caused by Nutcracker Syndrome: a Case Report

2021 ◽  
Author(s):  
Kanta Hori ◽  
Shota Yamamoto ◽  
Maki Kosukegawa ◽  
Noboru Yamashita ◽  
Yuichiro Shinno
Keyword(s):  
Case Report ◽  
Renal Vein ◽  
Pulmonary Thromboembolism ◽  
Case Reports ◽  
Left Renal Vein ◽  
Clinical Manifestations ◽  
Venous Hypertension ◽  
Nutcracker Syndrome ◽  
Case Presentation ◽  
Renal Venous Hypertension

Abstract Background: Nutcracker syndrome (NCS) refers to compression of the left renal vein (LRV) between the aorta and superior mesenteric artery (SMA), which results in renal venous hypertension and its resultant clinical manifestations. Left renal vein thrombus (LRVT) complicating NCS is relatively rare. To the best of our knowledge, there are only four case reports of LRVT complicating NCS. Furthermore, there are no reports of pulmonary thromboembolism (PTE) caused by NCS. Herein, we describe a rare case of NCS causing LRVT and PTE and its clinical management. Case Presentation: A 40-year-old man was admitted to our hospital with acute left flank pain. Computed tomography angiography (CTA) revealed compression of the LRV between the aorta and the SMA with an LRVT. Furthermore, CTA revealed bilateral PTE. Rivaroxaban was administered as an anticoagulant. Twenty days after initiation, CTA revealed complete resolution of PTE and LRVT, and repeat CTA at 3 and 6 months showed no recurrence. Conclusions: This case report demonstrates that NSC may be a possible cause of LRVT and PTE. We review the reported cases of NCS complicated by LRVT and discuss the imaging modalities for NCS.

scholarly journals Neuronal intranuclear inclusion disease mimicking acute cerebellitis: A case report

2020 ◽  
Vol 8 (23) ◽  
pp. 6115-6122
Author(s):  
Jiao-Jiao Guo ◽  
Zi-Yi Wang ◽  
Meng Wang ◽  
Zong-Zhi Jiang ◽  
Xue-Fan Yu
Keyword(s):  
Case Report ◽  
Intranuclear Inclusion ◽  
Acute Cerebellitis ◽  
Neuronal Intranuclear Inclusion

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

2021 ◽  
Vol 12 ◽  
Author(s):  
Jie Pang ◽  
Jing Yang ◽  
Yanpeng Yuan ◽  
Yuan Gao ◽  
Changhe Shi ◽  
...  
Keyword(s):  
Skin Biopsy ◽  
Clinical Manifestations ◽  
Asian Population ◽  
Diagnostic Value ◽  
Gene Detection ◽  
Intranuclear Inclusion ◽  
Mri Findings ◽  
Corticomedullary Junction ◽  
Repeat Expansions ◽  
Neuronal Intranuclear Inclusion

The clinical manifestations of neuronal intranuclear inclusion disease (NIID) are heterogeneous, and the premortem diagnosis is mainly based on skin biopsy findings. Abnormal GGC repeat expansions in NOTCH2NLC was recently identified in familial and sporadic NIID. The comparison of diagnostic value between abnormal GGC repeat expansions of NOTCH2NLC and skin biopsy has not been conducted yet. In this study, skin biopsy was performed in 10 suspected adult NIID patients with clinical and imaging manifestations, and GGC repeat size in NOTCH2NLC was also screened by repeat primed-PCR and GC-rich PCR. We found that five cases had ubiquitin-immunolabelling intranuclear inclusion bodies by skin biopsy, and all of them were identified with abnormal GGC repeat expansions in NOTCH2NLC, among whom four patients showed typical linear hyperintensity at corticomedullary junction on DWI. Five (5/10) NIID patients were diagnosed by combination of NOTCH2NLC gene detection, skin biopsy or combination of NOTCH2NLC, and typical MRI findings. The diagnostic performance of NOTCH2NLC gene detection was highly consistent with that of skin biopsy (Kappa = 1). The unexplained headache was firstly reported as a new early phenotype of NIID. These findings indicate that NOTCH2NLC gene detection is needed to be a supplement in the diagnose flow of NIID and also may be used as an alternative method to skin biopsy especially in Asian population.

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