Intracerebral Hemorrhage in Patients with Neuromyelitis Optica: Case Report with Literature Review for Possible Pathological Association
Neuromyelitis optica (NMO) is an autoimmune demyelinating disorder of the central nervous system which is characterized by attacks of optic neuritis and transverse myelitis. An association between NMO and intracerebral hemorrhage (ICH) has been rarely recognized, having been reported only 3 times before. Here we report on a patient with NMO who eventually developed subarachnoid hemorrhage, in order to emphasize that the association between NMO and ICH is mostly not incidental and that the pathological basis for this association should be investigated thoroughly.Case Rep Neurol 2021;13:157 –165 (Source: Case Reports in Neurology)
Source: Case Reports in Neurology - March 4, 2021 Category: Neurology Source Type: research
ALS Mimics due to Affection of the Cervical Spine: From Common Compressive Myelopathy to Rare CSF Epidural Collection
Amyotrophic lateral sclerosis (ALS) is a clinically heterogeneous disease, with chameleon presentations and several mimics. Considering the poor prognosis of ALS, their precise and timely identification is pivotal. Affection of the cervical spine represents one potential source of ALS mimics that should never be missed, since it is potentially treatable. We hereby present 5 cases initially diagnosed as ALS but eventually found to have different kinds of cervical spine affection, from a common compressive myelopathy to a rare space-occupying cystic fluid collection.Case Rep Neurol 2021;13:145 –156 (Source: Case Reports in Neurology)
Source: Case Reports in Neurology - March 4, 2021 Category: Neurology Source Type: research
Horizontal Gaze Defect as a Result of Subcortical Stroke: Case Report and Review of the Literature
We report a patient with subcortical white matter ischemic stroke who suffered horizontal gaze defects.Case Rep Neurol 2021;13:140 –144 (Source: Case Reports in Neurology)
Source: Case Reports in Neurology - February 26, 2021 Category: Neurology Source Type: research
Intrafamilial Phenotypic Variability Associated with the I1739V Mutation in the SCN9A Gene
We report the genotype phenotype analysis in a family carrying a specific mutation, I1739V, in theSCN9A gene. Neurophysiological studies have documented the gain of function impact of this mutation on this sodium channel. Interestingly, there is significant interfamilial phenotypic variability in individuals carrying this mutation. In our family, a father daughter combination had identical genotypes analyzing the SCN9A gene and multiple other genes known to cause neuropathy. Both of them carry the I1739V mutation but exhibit significant phenotypic variability with complaints of decreased sensitivity to discomfort in the fa...
Source: Case Reports in Neurology - February 25, 2021 Category: Neurology Source Type: research
A Case of Alpha-Pyrrolidinopentiophenone (Flakka)-Induced Ischemic Stroke
We present a case report of an acute ischemic stroke following the recreational use of α-PVP. The ischemic lesions were located in the midd le cerebral artery and deep watershed areas of the left cerebral hemisphere. Occupational therapy and physiotherapy were initiated, and the patient was discharged with only a mild right hemiparesis.Case Rep Neurol 2021;13:131 –134 (Source: Case Reports in Neurology)
Source: Case Reports in Neurology - February 16, 2021 Category: Neurology Source Type: research
R1352Q < b > < i > CACNA1A < /i > < /b > Variant in a Patient with Sporadic Hemiplegic Migraine, Ataxia, Seizures and Cerebral Oedema: A Case Report
Mutations in theCACNA1A gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy. In some cases, hemiplegic migraine attacks can be triggered by minor head trauma and culminate in encephalopathy and cerebral oedema. A 37-year-old male without a family history of complex migraine experienced hemiplegic migraine attacks from childhood. The attacks were usually triggered by minor head trauma, and on several occasions complicated with encephalopathy and cerebral oedema. Genetic testing of the proband and unaffected parents revealed a de novo heterozygous nucleotid...
Source: Case Reports in Neurology - February 16, 2021 Category: Neurology Source Type: research
Sudden Bilateral Deafness in a Patient with Transient Ischemic Attack: A Case Report
We report a 53-year-old man with an acute onset of complete bilateral hearing loss that gradually improved spontaneously over 4 h. The hearing loss was explained by an infarction visualized on magnetic resonance imaging, which showed a subacute temporoparietal ischemic lesion in the left cerebral hemisphere involving the insular cortex and an older infarction in the right temporoparietal region. The location of these kinds of lesions may typically not cause motor deficits, but sensory and cognitive (e.g., aphasia) symptoms, which can be challenging to recognize in a suddenly deaf patient. Taking the possible differential d...
Source: Case Reports in Neurology - February 16, 2021 Category: Neurology Source Type: research
A Patient with Noonan Syndrome with a < b > < i > KRAS < /i > < /b > Mutation Who Presented Severe Nerve Root Hypertrophy
We report a 45-year-old female with clinical features resembling Noonan syndrome (NS) who presented with significant nerve root hypertrophy. She was initially diagnosed with Charcot-Marie-Tooth disease because her gait disturbance gradually deteriorated and nerve conduction velocity was reduced. However, she did not carry aPMP22 gene mutation. RASopathies are a group of phenotypically overlapping developmental syndromes caused by germline mutations that encode components of the Ras/MAPK signaling pathway. These disorders include NS, cardiofaciocutaneous (CFC) syndrome, and Costello syndrome and are associated with molecula...
Source: Case Reports in Neurology - February 16, 2021 Category: Neurology Source Type: research
A 56-Year-Old Woman with Recurrent Strokes: A Clear Case with a Therapeutic Dilemma
A 56-year-old woman with a history of cerebral amyloid angiopathy (CAA) complicated by prior intracranial hemorrhage (ICH) was evaluated for an asymptomatic ischemic stroke discovered on screening brain MRI. On echocardiogram, she was found to have a mass on her mitral valve and strongly positive antiphospholipid antibodies. She was diagnosed with nonbacterial thrombotic (Libman-Sacks) endocarditis associated with the primary antiphospholipid syndrome (APS). The treatment decision was complicated by the history of CAA with ICH within the last year with very high risk for bleeding complications if on anticoagulation. A mult...
Source: Case Reports in Neurology - February 15, 2021 Category: Neurology Source Type: research
Transcranial Direct Current Stimulation Combined with Botulinum Neurotoxin Type A Injections for Treatment of Upper Limb Intention Tremor in Multiple Sclerosis: A Case Report
Upper limb intention tremor is a common cause of disability in multiple sclerosis (MS). Transcranial direct current stimulation (tDCS) is an emerging form of brain stimulation used to improve sensorimotor impairments in many neurological disorders. Here, we describe a combined therapeutic approach with botulinum neurotoxin type A (BoNT-A) and tDCS for the treatment of upper limb tremor in a patient with MS. We administered a cathodal tDCS 15 days after the injections of BoNT-A. Both post-injection and post-stimulation evaluation revealed a considerable improvement of the tremor. This approach positively affected the patien...
Source: Case Reports in Neurology - February 15, 2021 Category: Neurology Source Type: research
Coexistence of Hereditary Spastic Paraplegia Type 4 and Narcolepsy: A Case Report
In this report, we describe the clinical symptoms and genetic background of the patient.Case Rep Neurol 2021;13:84 –91 (Source: Case Reports in Neurology)
Source: Case Reports in Neurology - February 15, 2021 Category: Neurology Source Type: research
Two Cases of Probable Neuro-Beh çet’s Disease with Longitudinally Extensive Transverse Myelitis
We report 2 cases of probable neuro-Beh çet’s disease (NBD) with longitudinally extensive transverse myelitis (LETM). In both cases, the patients presented paraplegia, as well as sensory, bladder, and rectal disturbances. Magnetic resonance imaging (MRI) of patient 1 showed continuous high signal intensity extending from the midbrain t o the entire spinal cord in the central part of the cord on T2-weighted imaging (T2WI). Spinal MRI of patient 2 revealed high signal intensity extending from Th2 to Th10 in the central part of the cord on T2WI. Both patients received high-dose methylprednisolone. A continuous lesion from ...
Source: Case Reports in Neurology - February 8, 2021 Category: Neurology Source Type: research
A Severe Course of Relapsing-Remitting Acute-Onset Chronic Inflammatory Demyelinating Polyneuropathy in a Young Man
Acute-onset chronic inflammatory demyelinating polyneuropathy (A-CIDP) is an immune mediated neuropathy characterized by progressive weakness and sensory impairment lasting over 2 months. Guillain-Barr é-Strohl syndrome (GBS) is an immune mediated polyneuropathy with a similar presentation often over less than 4 weeks. While some have argued for the existence of recurrent GBS, most classify the syndrome as a form of relapsing-remitting CIDP. However, there are cases of GBS with treatment-related fluctuations that must be distinguished from A-CIDP as patients with A-CIDP require long-term immunotherapy. In this case report...
Source: Case Reports in Neurology - February 4, 2021 Category: Neurology Source Type: research
Eculizumab during Pregnancy in a Patient with Treatment-Refractory Myasthenia Gravis: A Case Report
The recombinant humanized monoclonal antibody eculizumab has been shown to be effective and well tolerated in patients with anti-acetylcholine receptor antibody-positive, treatment-refractory generalized myasthenia gravis (gMG). Myasthenia gravis (MG) often affects women of child-bearing potential. However, management can be challenging during pregnancy, and current treatment options are limited due to potential teratogenicity. Data are currently lacking on the use of eculizumab in pregnant women with gMG. This case report describes a successful pregnancy in a young woman with treatment-refractory gMG treated with eculizum...
Source: Case Reports in Neurology - February 1, 2021 Category: Neurology Source Type: research
ALS-Like Disorder in Three HIV-Positive Patients: Case Series
We report three cases of HIV-positive individuals, all male, who were subsequently diagnosed with ALS. Each presented with symptoms of limb onset ALS with involvement of upper and lower motor neurons and whose disease originated at the cervical level. All three had been diagnosed with HIV prior to presentation and were presumably compliant with antiretroviral therapy throughout. Our patients demonstrated effective control of their HIV infection. Each experienced relatively slow progression of motor impairment compared to ge neral ALS characteristics. Our study offers a distinct profile of HIV-positive patients compliant wi...
Source: Case Reports in Neurology - January 28, 2021 Category: Neurology Source Type: research
