Episodic Vestibulocerebellar Ataxia Associated with a < b > < i > CACNA1G < /i > < /b > Missense Variant
Episodic vestibulocerebellar ataxias are rare diseases, frequently linked to mutations in different ion channels. Our objective in this work was to describe a kindred with episodic vestibular dysfunction and ataxia, associated with a novelCACNA1G variant. Two individuals from successive generations developed episodes of transient dizziness, gait unsteadiness, a sensation of fall triggered by head movements, headache, and cheek numbness. These were suppressed by carbamazepine (CBZ) administration in the proband, although acetazolamide and topiramate worsened instability, and amitriptyline and flunarizine did not prevent hea...
Source: Case Reports in Neurology - June 11, 2021 Category: Neurology Source Type: research
Heterozygous VPS13A and PARK2 Mutations in a Patient with Parkinsonism and Seizures
We report a case of early onset parkinsonism and seizures in a 43-year-old male with a family history of NA. Neurologic examinations showed cognitive impairment and marked parkinsonian signs. MRI showed bilateral basal ganglia gliosis. He was found to have a novel heterozygous mutation in the VPS13A gene, in addition a heterozygous mutation in the PARK2 gene. His clinical picture was atypical for typical chorea-acanthocytosis (ChAc). The compound heterozygous mutations of VPS13A and PARK2 provide the most plausible explanation for this patient ’s clinical symptoms. This case adds to the phenotypic diversity of ChAc. More...
Source: Case Reports in Neurology - June 11, 2021 Category: Neurology Source Type: research
Ischemic Stroke in a 29-Year-Old Patient with COVID-19: A Case Report
We reported, instead, a case of an ischemic stroke in a young woman during her hospitalization for COVID-19-related pneumonia. A 29-year-old woman presented to the emergency department of our institution with progressive respiratory distress associated with a 2-day history of fever, nausea, and vomiting. The patient was transferred to the intensive care unit (ICU) where she underwent a tracheostomy for mechanical ventilation due to her severe clinical condition and her very low arterial partial pressure of oxygen. The nasopharyngeal swab test confirmed SARS-CoV-2 infection. Laboratory tests showed neutrophilic leucocytosis...
Source: Case Reports in Neurology - June 10, 2021 Category: Neurology Source Type: research
Eosinophilic Granulomatosis with Polyangiitis Presenting with Myocarditis as an Initial Symptom: A Case Report and Review of the Literature
A 66-year-old woman with a history of bronchial asthma had shortness of breath and fatigue upon mild exercise. She was diagnosed as congestive heart failure. A blood test showed eosinophilia without the presence of anti-neutrophil cytoplasmic antibody (ANCA), and a myocardial biopsy specimen revealed eosinophilic infiltration in the myocardium. Eosinophilia was improved when she was administered short-term methylprednisolone. After that, she had numbness and pain in her lower limbs with re-elevation of eosinophils. She had dysesthesia and hypalgesia in the distal part of the limbs. Sural nerve biopsy revealed axonal degene...
Source: Case Reports in Neurology - June 10, 2021 Category: Neurology Source Type: research
Cerebral Vasculitis in a COVID-19 Confirmed Postpartum Patient: A Case Report
This report was compatible with the pattern of viral-induced vasculitis and provides support to the mechanism of COVID-19-associated neurologic manifestation.Case Rep Neurol 2021;13:324 –328 (Source: Case Reports in Neurology)
Source: Case Reports in Neurology - June 10, 2021 Category: Neurology Source Type: research
Reasons for Diagnostic Delay of Foot Drop Caused by Parasagittal Meningioma: Two Case Reports
Foot drop is defined as an impaired ability or inability of dorsiflexion. Peripheral nervous system injuries are commonly considered as the cause of this condition. The central causes including parasagittal meningioma are also described in the literature but very rarely and commonly not recognized early. In this article, we report 2 patients with isolated unilateral foot drop as the first symptom of a parasagittal meningioma and discuss several reasons for delayed diagnosis. Two patients were treated with decompressive craniotomy. The histopathological findings demonstrated a fibroblastic meningioma and a meningothelial me...
Source: Case Reports in Neurology - June 1, 2021 Category: Neurology Source Type: research
Overshunting-Related Cervical Myelopathy Causing Progressive Gait Disturbance: A Case Report
We present a 75-year-old man, previously given a VP shunt at the age of 46, who developed a progressive gait disturbance and ataxia of the limbs after 27 years. MRI showed a cervical stenosis and myelopathy as a result of venous engorgement due to chronic overshunting of the VP shunt. Revision of the VP shunt resulted in complete resolution of his neurological symptoms and the cervical myelopathy. Cervical myelopathy due to chronic overshunting is a rare and potentially very late complication of a VP shunt. Our case underlines the importance of awareness of this complication while proper treatment can reverse the associate...
Source: Case Reports in Neurology - June 1, 2021 Category: Neurology Source Type: research
Localized Immunoglobulin Light-Chain Amyloidosis of the Ulnar Nerve
Amyloidosis is a disorder caused by extracellular tissue deposition of insoluble fibrils. Amyloidosis can be divided into systemic or localized disease. Primary systemic amyloidosis is a multisystem disease caused by the deposition of amyloid in various tissues. Localized amyloidosis has different characteristics than those of systemic amyloidosis. In this paper, we present the case of a middle-aged woman who presented with worsening ulnar nerve palsy. Electrophysiological examination and MRI indicated a tumor surrounding the ulnar nerve in the forearm. However, the operative findings revealed that ulnar nerve fascicles we...
Source: Case Reports in Neurology - May 27, 2021 Category: Neurology Source Type: research
Resolution of Radiation-Induced Necrosis in Arteriovenous Malformation with Bevacizumab: A Case Report and Review of Current Literature
Stereotactic radiosurgery (SRS) is a proven treatment modality for inoperable arteriovenous malformations (AVMs). However, the rate of radiation-induced necrosis (RIN) is as high as 10%. A 6-year-old female patient presented with severe headache, emesis, and syncope, and workup revealed a Spetzler-Martin grade 4 AVM with intraventricular hemorrhage and hydrocephalus. The patient underwent a right frontal ventriculostomy followed by a linear accelerator-based SRS of 16.9 Gy. At 19 years, she developed progressive neurological symptoms. Diagnostic magnetic resonance imaging (MRI) revealed a recurrent parietal AVM nidus. We d...
Source: Case Reports in Neurology - May 27, 2021 Category: Neurology Source Type: research
Pseudotumoral Demyelinating Lesions: A Presentation of Acute Disseminated Encephalomyelitis
Pseudotumoral forms of demyelination are related to central nervous system demyelinating disorders, usually considered to be an atypical presentation of multiple sclerosis including its different varieties such as Balo ’s, Schilder’s, and Marburg diseases. These lesions could also be seen in myelin oligodendrocyte glycoprotein antibody-associated demyelination, acute disseminated encephalomyelitis (ADEM), and neuromyelitis optica spectrum disorder. The pseudotumoral aspect may be mistakenly considered as an ab scess or a cancerous tumor, in which case, patients could endure unnecessary possibly harmful brain biopsy and...
Source: Case Reports in Neurology - May 27, 2021 Category: Neurology Source Type: research
Epileptic Capgras-Like Delusions in a Patient with Right Frontal Meningioma: Case Report
We describe the uncommon case of a transient Capgras syndrome manifesting as focal temporal seizures in a woman with a right frontal meningioma. Our patient represents an exceptional case of Capgras syndrome for several reasons, namely, the association with meningioma, very rarely reported before, the transient manifestation of symptoms, and, most importantly, the epileptic etiology of reduplicative paramnesias. Lastly, our report also confirms the importance of frontal and right hemisphere dysfunction in generating Capgras syndrome-like delusions.Case Rep Neurol 2021;13:284 –288 (Source: Case Reports in Neurology)
Source: Case Reports in Neurology - May 27, 2021 Category: Neurology Source Type: research
Successful Management of Internal Carotid Artery Transection Secondary to a Gunshot Wound and Subsequent Malignant MCA Syndrome
We present a rare case of a 24-year-old male patient admitted to the Emergency Department having sustained a gunshot wound to the left side of his neck. Initial imaging and surgical exploration revealed significant left-sided vertebral artery damage and a complete transection of the internal carotid artery. Following damage control surgery (DCS), the patient was admitted to ITU but had an acute neurological deterioration and was found to have suffered malignant middle cerebral artery (MCA) syndrome, requiring an urgent decompressive craniectomy. The patient ’s National Institutes of Health Stroke Scale (NIHSS) at this st...
Source: Case Reports in Neurology - May 25, 2021 Category: Neurology Source Type: research
A Case of Pediatric Stroke: Osteosarcoma Embolus in the Internal Carotid Artery
We present the case of a young child diagnosed with stroke secondary to osteosarcoma embolism to the left internal carotid artery and review the relevant literature to discuss the considerations and challenges of treatment of stroke in the pediatric population.Case Rep Neurol 2021;13:269 –275 (Source: Case Reports in Neurology)
Source: Case Reports in Neurology - May 21, 2021 Category: Neurology Source Type: research
Erratum
Case Rep Neurol 2021;13:268 (Source: Case Reports in Neurology)
Source: Case Reports in Neurology - April 29, 2021 Category: Neurology Source Type: research
Erratum
Case Rep Neurol 2021;13:267 (Source: Case Reports in Neurology)
Source: Case Reports in Neurology - April 29, 2021 Category: Neurology Source Type: research
