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536 articles
November 202624
Clinical Reasoning: A 55-Year-Old Woman With a Hyperkinetic Movement Disorder, External Ophthalmoplegia, and Myopathy.
A 55-year-old woman was evaluated for an 8-year history of hyperkinetic movements. Her examination and clinical picture also included mild ataxia, spasticity in the lower limbs, external ophthalmoplegia, and myopathy.
Measles-like hypermutation of a Newcastle disease virus drives fatal encephalitis during BCMA × CD3 T-cell-redirecting immunotherapy.
A patient with multiple myeloma receiving maintenance teclistamab, daratumumab, and lenalidomide developed rapidly progressive brainstem-cerebellar encephalitis.
Multidisciplinary management of disseminated tuberculosis with tuberculous meningitis and active hepatitis B in a critically ill pregnant woman in the third trimester: a case report.
A 24-year-old woman at 30 weeks’ gestation presented with headache, vomiting, fever, and nuchal rigidity. Cerebrospinal fluid findings confirmed tuberculous meningitis, and chest CT showed diffuse miliary nodules…
Rheumatoid factor positivity in ANCA-negative eosinophilic granulomatosis with polyangiitis: cardiac mimicry, mononeuritis multiplex, and long-term outcome in a case-based systematic review.
A 42-year-old woman with long-standing asthma and rheumatoid factor (RF) of 322 IU/mL presented with myocardial infarction-like cardiac involvement despite non-obstructive coronary arteries.
Impact of nasogastric administration using the simple suspension method on serum tirabrutinib levels: A case report.
An 82-year-old man with relapsed primary central nervous system lymphoma began tirabrutinib at 320 mg/day while fasting. As dysphagia progressed, administration changed from swallowing tablets to nasogastric delivery by…
Pearls & Oy-sters: Anti-GABA A Receptor Encephalitis Presenting as Fulminant Hemicerebellitis in a 5-Year-Old Girl.
A previously healthy 5-year-old girl developed acute neurologic decline after several days of fever and malaise. CT showed severe right cerebellar inflammation and edema with fourth-ventricle effacement, prompting…
Clinical Reasoning: A 69-Year-Old Female Patient With Rapid-Onset Levodopa-Responsive Rest Tremor, Parkinsonism, and Gait Freezing.
A 69-year-old woman developed a unilateral resting tremor that rapidly spread to the opposite arm and then the legs. Within 3 months, she had generalized parkinsonism, a shuffling gait with prominent freezing, and…
Clinical Reasoning: A 33-Year-Old Man With Rapidly Progressive Ataxia.
A 33-year-old man with AIDS developed subacute progressive confusion, blurred vision, diplopia, and generalized cerebellar ataxia after hospitalizations for opportunistic infections.
Intractable Nausea and Vomiting: A Key Feature of Neuromyelitis Optica Spectrum Disorder.
A 22-year-old woman had five weeks of intractable nausea, vomiting, and hiccups. Delayed gastric emptying led to an initial diagnosis of gastroparesis, but symptoms persisted despite antiemetic and prokinetic therapy.
Progression-Associated Loss of SMARCB1/INI1 Expression in Mismatch Repair-Deficient Glioblastoma.
A patient with mismatch repair-deficient glioblastoma had a recurrent tumor in which testing identified a second SMARCB1 mutation and complete loss of SMARCB1/INI1 protein expression.
Allan-Herndon-Dudley syndrome associated with SLC16A2 c.1384G>A (p.Gly462Arg): A family case report with retrospective molecular diagnosis in a deceased sibling.
A boy evaluated at 4.3 years had profound developmental delay, abnormal tone, dystonia, muscle atrophy, contractures, and bilateral cryptorchidism.
Neuromyelitis optica spectrum disorder presenting as rapidly progressive dementia: A case report.
A 64-year-old woman developed rapidly progressive cognitive slowing and memory loss over 10 days, with disorientation, apathy, and inability to recognize family; her MMSE score was 3/30.
Time- and posture-specific management of severe supine hypertension and neurogenic orthostatic hypotension in diabetic autonomic neuropathy: A case report.
A 63-year-old man with insulin-treated type 2 diabetes and hypertension developed worsening orthostatic dizziness and recurrent syncope after antihypertensive intensification, including a rib fracture and loss of…
Concurrent prenatal diagnosis of hereditary neuropathy with liability to pressure palsies and congenital pulmonary airway malformation: A case report.
At 24 weeks’ gestation, ultrasound in a 38-year-old woman showed a right fetal thoracic lesion with blood supply from the right pulmonary artery, consistent with congenital pulmonary airway malformation (CPAM).
An encephalitis-like syndrome in an adult with methylmalonic acidemia and hyperhomocysteinemia: A case report.
A 56-year-old man developed fever and slowed responses, followed by disorganized speech, visual hallucinations, impaired consciousness, and pyramidal signs.
Magnetic resonance neurography-supported L3-L4 radiculitis presenting as refractory peripatellar neuropathic pain in a patient with diabetes: A case report.
A 75-year-old man with longstanding type 2 diabetes developed severe burning, stabbing pain around the left kneecap, with numbness and touch-evoked allodynia but no back pain, typical radicular symptoms, weakness, or…
Clinical and genetic characterization of three Iranian patients carrying the CLCN1 p.Pro452Leu variant.
Three Iranian families were evaluated for clinical and electrical myotonia, characterized by delayed skeletal muscle relaxation after contraction.
Identification of AKAP6 as a candidate gene for charcot-marie-tooth disease: expanding the clinical and molecular spectrum.
A family was evaluated for axonal sensorimotor polyneuropathy. Whole-exome sequencing, with copy-number variant detection and runs-of-homozygosity analysis, identified a homozygous nonsense variant in AKAP6, c.4774 C >…
Spontaneous recanalization of pediatric internal carotid artery dissection during aspirin monotherapy: a retrospective case series.
This retrospective series described five children with acute arterial ischemic stroke due to intracranial internal carotid artery dissection.
Post-lumbar Puncture Hearing Loss: A Rare Case of Reversible Presumed Secondary Endolymphatic Hydrops.
A 46-year-old man developed sudden left-ear fullness and diplacusis monauralis five days after diagnostic lumbar puncture, together with a post-lumbar puncture headache.
Clinical Reasoning: A 68-Year-Old Woman With Bilateral Optic Disc Edema.
A 68-year-old immunocompetent woman presented with headache, vertigo, and diplopia. Examination revealed bilateral optic disc edema.
Postoperative Neuromuscular Paresis and Overlap Syndrome Related to Immune Checkpoint Inhibitors: A Case Report.
A patient receiving immune checkpoint inhibitor therapy developed extremity paresis after proximal humerus resection and reconstruction.
Erdheim-Chester disease: a diagnostic dilemma - a report of four cases.
Four adults aged 27–40 years presented with neurological Erdheim-Chester disease (ECD), with manifestations including cerebellar ataxia, dysarthria, tremor, visual deterioration, and headache.
Acupoint-Propagated Sensation During Laser Acupuncture in Bell's Palsy.
Two patients with chronic Bell’s palsy received non-invasive laser acupuncture three times weekly. Assessment included facial nerve grading scales, electromyography, electroneurography, and blink reflex testing.
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