Effect of Flunarizine on Alternating Hemiplegia of Childhood in a Patient with the p.E815K Mutation in ATP1A3: A Case Report
Alternating hemiplegia of childhood (AHC) (MIM 104290) is characterized by transient repeated attacks of paresis on either or both sides of the body, oculomotor and autonomic abnormalities, movement disorders, and cognitive impairment. Preventing paroxysmal attacks, such as paresis and spasm, in patients with AHC is often difficult. An 8-month-old girl presented to our institution with intractable epilepsy. She developed AHC, with left-right alternating or bilateral recurrent plegia upon waking, involuntary movements, eye movement abnormalities, and psychomotor retardation. She had a heterozygous de novo p.E815K mutation i...
Source: Case Reports in Neurology - September 18, 2020 Category: Neurology Source Type: research
Monomelic Amyotrophy (Hirayama Disease): A Rare Case Report and Literature Review
We report a rare case of a 20-year-old Kuwaiti patient presenting with a 10-month duration of gradual left upper limb weakness and wasting. We describe his electrophysiological and radiological findings that confirmed the diagnosis, and conducted a literature review. Hirayama disease is rarely encountered in clinical settings and should be suspected in male patients presenting with unilateral or asymmetrical bilateral lower motor weakness of hands and forearms. It is a benign entity, and cervical collar is usually the only treatment needed in most cases.Case Rep Neurol 2020;12:291 –298 (Source: Case Reports in Neurology)
Source: Case Reports in Neurology - September 17, 2020 Category: Neurology Source Type: research
Volume-Staged Radiosurgery for Large Arteriovenous Malformation
L аrge аrteriovenous mаlformаtions (АVMs) аre chаllenges in mаnаgement becаuse of outcomes аnd аdverse аffects. Volume-stаged rаdiosurgery hаs been аn аppropriаte аpproаch when removаl resection аnd embolizаtion аre not recommended. А 53-yeаr-old gentlemаn wаs diаgnosed w ith а lаrge intrаcrаniаl АVM with persistent heаdаche аnd short-term seizure. Brаin mаgnetic resonаnce аnd аngiogrаph showed а bulky volume of АVM nidus. Removаl resection аnd embolizаtion were not recommended becаuse of high risk of аdverse аffects. The pаtient wаs treаted by volume-stаged rаdiosu...
Source: Case Reports in Neurology - September 17, 2020 Category: Neurology Source Type: research
Isolated Cervical Myelitis in Lyme Disease: A Rare Manifestation of Acute Neuroborreliosis
We report a case of acute neuroborreliosis that manifested as extended isolated cervical myelitis. Not only the manifestation as isolated myelitis in the early stages of borreliosis represents a rarity, but also the strong contrast between mild clinical symptoms and pronounced imaging findings in this case is remarkable.Case Rep Neurol 2020;12:276 –281 (Source: Case Reports in Neurology)
Source: Case Reports in Neurology - September 17, 2020 Category: Neurology Source Type: research
The Effectiveness of Perampanel for Myoclonic Seizures in Down Syndrome with Isodicentric Chromosome 21
Epileptic seizures are common in the elderly Down syndrome population. We encountered a patient with Down syndrome in whom karyotyping showed the rare isodicentric chromosome 21 and who suffered from myoclonic seizures. A 52-year-old woman with Down syndrome experienced sudden onset of drowsiness and frequent myoclonic jerks in the upper body. Video-EEG recordings demonstrated generalized polyspike-wave discharges consistent with myoclonic jerks, which were exacerbated by photo-stimulation. Her myoclonus completely resolved with perampanel administration. Perampanel was effective for myoclonic seizures in our patient. We s...
Source: Case Reports in Neurology - September 10, 2020 Category: Neurology Source Type: research
Hypertension-Related Cerebral Microbleeds
We describe a case of cerebellar hemorrhage with cerebral microbleeds secondary to chronic hypertension.Case Rep Neurol 2020;12:266 –269 (Source: Case Reports in Neurology)
Source: Case Reports in Neurology - September 10, 2020 Category: Neurology Source Type: research
A Case of Coronavirus Disease 2019 Presenting with Seizures Secondary to Cerebral Venous Sinus Thrombosis
We report the first case of COVID-19 presenting with generalized seizure secondary to cerebral venous sinus thrombosis.Case Rep Neurol 2020;12:260 –265 (Source: Case Reports in Neurology)
Source: Case Reports in Neurology - August 4, 2020 Category: Neurology Source Type: research
A Novel Duplication Mutation in the < b > < i > Myelin Protein Zero < /i > < /b > Gene Causing Mild, Nonprogressive Demyelinating Neuropathy
We present a father and daughter with neuropathy carrying a novel 31 base pair duplication mutation in the 5 ′ untranslated region of theMPZ gene, c.-23_8dup31. Genetic analysis and protein modeling indicated that this is a frameshift mutation resulting in premature truncation of the encoded protein. The daughter underwent repeat neurological examination and electromyography testing over an 11-year time span demonstrating no clinical or electrophysiological change. Our study expands the clinical and genetic spectrum of mutations that can cause CMT type 1B disease and demonstrates the value of sequence analysis of noncodi...
Source: Case Reports in Neurology - July 29, 2020 Category: Neurology Source Type: research
Fibrosing Inflammatory Pseudotumor Presenting as Cranial Neuropathy
We report two cases of biopsy-corroborated “fibrosing inflammatory pseudotumor” to illustrate that the entity, rarely described in the neurological literature, should be included in the differential diagnosis of either a cranial mononeuropathy or, certainly, in the case of progressive cranial neuropathies. A broad differential diagnosis arises in certain contexts. Early steroid treatment can be effective, and perhaps later-generation immune-modulating agents may confer further options, although there is no known definitive treatment.Case Rep Neurol 2020;12:247 –254 (Source: Case Reports in Neurology)
Source: Case Reports in Neurology - July 1, 2020 Category: Neurology Source Type: research
Virtual Reality Training Helpful in Motor and Cognition in Corticobasal Syndrome: A Case Report PET Study
Corticobasal syndrome (CBS) is a rare progressive neurodegenerative disease characterized by a combination of asymmetric motor symptoms and non-motor symptoms. CBS is poorly responsive to levodopa. Non-pharmacological strategies have been found to be useful as components of a multidisciplinary therapeutic approach for patients with CBS. The purpose of this study was to investigate the effects of virtual reality training in addressing symptoms of CBS. A 64-year-old man was clinically diagnosed as CBS one year after the onset of complaints. Positron emission tomography (PET) scan showed asymmetrical hypometabolism in the rig...
Source: Case Reports in Neurology - July 1, 2020 Category: Neurology Source Type: research
Colocalization of Tau but Not β-Amyloid with Cortical Superficial Siderosis in a Case with Probable CAA
We report on an 80-year-old male patient who was diagnosed with probable CAA according to modified Boston criteria and underwent longitudinal magnetic resonance imaging, amyloid positron emission tomography (PET), and additional t au PET imaging. Amyloid deposition presented predominantly in the contralateral hemisphere not affected by cSS. In contrast, tau deposition was predominantly overlapping with brain regions affected by cSS. Amyloid deposition was not different in the vicinity of cSS whereas tau depositions were eleva ted in the vicinity of CSS-affected regions compared to non-cSS-affected brain regions. This case ...
Source: Case Reports in Neurology - June 29, 2020 Category: Neurology Source Type: research
Differential Impact of Cognitive Impairment in MCI Patients: A Case-Based Report
Mild cognitive impairment (MCI) traditionally refers to an intermediate stage between healthy individuals and early Alzheimer disease. Evidence shows grey and white matter volume changes and decrease in several executive functions, albeit the relation between cognitive performance and brain volume remains unclear. Here, we discuss 3 individual cases of MCI by investigating their MRI scans and cognitive test performance. We also recruited age-matched healthy older adults serving as gold standard for both grey and white matter volume and cognitive test outcomes. Our results show the impact of cognitive impairment on cognitiv...
Source: Case Reports in Neurology - June 29, 2020 Category: Neurology Source Type: research
Epstein-Barr Virus-Associated Encephalopathy Presenting with Nonconvulsive Status Epilepticus in an Immunosuppressive State
Epstein-Barr virus (EBV) infection is occasionally accompanied by central nervous system (CNS) complications, particularly in immunosuppressed patients. However, the symptoms and clinical features of EBV infection in the CNS are rather heterogeneous and remain unknown. We herein describe the first reported adult case manifesting nonconvulsive status epilepticus (NCSE), possibly associated with reactivation of EBV in an immunosuppressive state. A 63-year-old man with a history of acute myeloid leukemia and taking immunosuppressants was admitted due to progressively impaired consciousness without any focal neurological signs...
Source: Case Reports in Neurology - June 22, 2020 Category: Neurology Source Type: research
Multifocal Stroke Complicating Anti-NMDA Receptor Encephalitis
We describe here a preadolescent female, whose course of NMDARE was complicated by a unilateral stroke, resulting in permanent deficits. The imaging characteristics suggest a vascular (thrombotic) etiology. To our knowledge, th is is the first report of stroke in the setting of NMDARE.Case Rep Neurol 2020;12:210 –213 (Source: Case Reports in Neurology)
Source: Case Reports in Neurology - June 12, 2020 Category: Neurology Source Type: research
Cerebrovascular Disease in Patients with COVID-19: A Review of the Literature and Case Series
COVID-19 has been associated with a hypercoagulable state causing cardiovascular and neurovascular complications. To further characterize cerebrovascular disease (CVD) in COVID-19, we review the current literature of published cases and additionally report the clinical presentation, laboratory and diagnostic testing results of 12 cases with COVID-19 infection and concurrent CVD from two academic medical centers in Houston, TX, USA, between March 1 and May 10, 2020. To date, there are 12 case studies reporting 47 cases of CVD in COVID-19. However, only 4 small case series have described the clinical and laboratory findings ...
Source: Case Reports in Neurology - June 11, 2020 Category: Neurology Source Type: research
