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396 articles
October 202624
Clinical manifestations of Armfield syndrome in females with heterozygous FAM50A variants and skewed X-chromosome inactivation.
A Spanish female patient presented with macrocephaly, global developmental delay, and leukoencephalopathy. Whole-exome sequencing identified a novel de novo heterozygous FAM50A variant, c.905 A > T (p.His302Leu).
Disease trajectory in cerebral amyloid angiopathy: a matter of time.
A 75-year-old woman diagnosed with possible cerebral amyloid angiopathy (CAA) in 2016 had a spontaneous right prerolandic convexal subarachnoid hemorrhage and MRI evidence of small-vessel disease.
Intermittent Maple Syrup Urine Disease Presenting With Chronic Demyelinating Polyneuropathy: A Genetically Confirmed DBT-Related Case.
A female patient with intermittent maple syrup urine disease (MSUD), genetically confirmed by compound heterozygous pathogenic DBT variants, had recurrent ataxic episodes from early childhood.
Neuronal intermediate filament neurologic autoimmunity in a patient with Merkel cell carcinoma receiving pembrolizumab.
A 55-year-old woman with recurrent stage IIIA Merkel cell carcinoma developed vertigo, gait instability, dysarthria, and persistent right hemifacial and cervical spasms after her second pembrolizumab dose.
Spontaneous regression of post-traumatic syringomyelia: longitudinal mr imaging demonstrating a dynamic disease course.
A 69-year-old patient with post-traumatic cervicothoracic syringomyelia presented with occipital headaches, dizziness, and subjective upper-extremity weakness.
Tuberculosis-Associated Longitudinally Extensive Transverse Myelitis.
A 51-year-old man with a year of chronic non-productive cough and about 20 days of fever and headache presented with encephalopathy but no focal neurological deficits.
Seated Modified Liuzijue Training for Rehabilitation of a Patient with Respiratory Impairment During the Recovery Phase of Stroke: A Case Report.
A patient with respiratory impairment during stroke recovery also had motor dysfunction and balance limitations that made the traditional standing Liuzijue protocol unsuitable.
Child Neurology: Neonatal Management of Tyrosine Hydroxylase Deficiency: How Early Is Early Enough?
Two preterm neonates from unrelated families with a known family history of tyrosine hydroxylase deficiency were diagnosed early. Both began levodopa/carbidopa treatment during the neonatal period.
High-Resolution Ultrasound in the Evaluation of Median and Superficial Radial Nerve Involvement in Neurofibromatosis Type 1.
A 16-year-old girl with neurofibromatosis type 1 presented with hand pain and paresthesia. High-resolution ultrasound showed a hypervascular superficial neurofibroma, marked epineural thickening of the median nerve…
Delayed diagnosis of cerebrotendinous xanthomatosis with progressive neurological involvement: a case report.
A 34-year-old man with genetically confirmed cerebrotendinous xanthomatosis presented with progressive gait instability, dysarthria, dysphagia, and cognitive impairment.
Cerebrospinal fluid positive for SARS-CoV-2 associated with neurological manifestations and proteome alterations in a multiple myeloma patient.
A 67-year-old woman with multiple myeloma and recent exposure to a person with COVID-19 developed rapidly progressive dysarthria, dysphagia, and hypoesthesia without respiratory symptoms.
Co-existence of CLCN1 and DNM2 variants in a phenotype overlapping myotonia and myopathy.
An Iranian family was evaluated for a phenotype combining severe myotonia and myopathic features. The index patient had clinical and electrical myotonia, with myopathic changes on electromyography.
TAC-Tic syndromes: a case series on the complex overlap between trigeminal autonomic cephalalgias and trigeminal neuralgia.
A retrospective case series described five women with overlapping trigeminal autonomic cephalalgias and trigeminal neuralgia: two SUNCT-tic, two cluster-tic, and one paroxysmal hemicrania-tic syndrome.
A novel de novo variant of CDKL5 in an Iranian child with infantile-onset refractory epilepsy.
An Iranian girl presented with developmental delay, hypotonia, and refractory seizures. Whole-exome sequencing identified a de novo CDKL5 frameshift variant, c.1037_1038delTCinsCAGATCTAA (p.Ile346Thrfs*14), which Sanger…
Case Report WIN-MTB-2024001 - WIN International Molecular Tumor Board: A 55-year-old male with glioblastoma exhibiting amplifications in MDM2 and EGFR.
A 55-year-old man with high-grade glioblastoma had next-generation sequencing findings that included MDM2 and EGFR amplifications and a CDKN2A frameshift mutation.
Presumed oxaliplatin-related Guillain-Barré syndrome: A case report and review of chemotherapy-related Guillain-Barré syndrome.
A 77-year-old woman with metastatic cholangiocarcinoma and colorectal carcinoma developed rapidly progressive, symmetric ascending motor weakness about 2 weeks after her last cycle of gemcitabine, oxaliplatin…
Spontaneous gene mutation encounters a paternal genetic variant: Nemaline myopathy: a case report and literature review.
A 21-year-old man had progressive weakness beginning in the distal lower limbs at age 3, later affecting proximal and masticatory muscles.
Seizures Secondary to Aconitum Plant Poisoning: a case report.
A 53-year-old man developed ventricular tachycardia progressing to ventricular fibrillation and cardiac arrest after drinking homemade Aconitum kusnezoffii-infused liquor.
Intracranial metastasis as a mimic of amyloid-related imaging abnormalities.
A 79-year-old woman with biomarker-confirmed Alzheimer’s disease developed progressive vasogenic edema while receiving lecanemab.
Inside a Programmer's Brain: Dissociating Code and Language Comprehension Networks Using a Novel fMRI-ESM Protocol.
A professional software engineer with an IDH-mutant astrocytoma in the left middle frontal gyrus underwent preoperative fMRI and intraoperative electrical stimulation mapping (ESM) to assess both language and code…
Surgery to treat autonomic dysreflexia due to cubital tunnel syndrome in cervical spinal cord injury: a case report.
A 74-year-old woman with remote C6 spinal cord injury (AIS B) developed recurrent autonomic dysreflexia episodes that had not responded to standard measures.
A 35-Year-Old Woman With Multiple Sclerosis and a New Atypical Thalamic Lesion: A Case Report From the National Multiple Sclerosis Society Case Conference Proceedings.
A 35-year-old woman with multiple sclerosis developed an enlarging thalamic lesion. Although new or enlarging lesions in MS can indicate disease activity, the lesion was ultimately diagnosed as a diffuse midline glioma…
Painless Spontaneous Spinal Epidural Hematoma Mimicking Acute Ischemic Stroke: A Case Report.
A woman in her early 60s receiving anticoagulant and antiplatelet therapy developed neck tightness and numbness in both limbs without pain, followed by transient right hemiplegia and rapid neurological deterioration.
Clinicopathologic Evaluation of Amyloid Clearance in Alzheimer Disease.
A man in his 50s with mild cognitive impairment and the Alzheimer disease risk-associated p.R47H TREM2 variant received 30 doses of aducanumab (cumulative dose 280 mg/kg) over 4.5 years in a clinical trial.
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