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Important medical research and remarkable case reports worth knowing.

Selected from high-relevance medical literature published in the last 14 days.

AllClinical ResearchCase Reports
FeaturedCase ReportNeurology

PHACE syndrome: a systematic literature review and illustrative case report of a patient with severe cerebrovascular and neurodevelopmental sequelae.

Neurol SciSep 4, 2026Open access

A 12-year-old girl with PHACE syndrome presented with a left V1-distribution facial hemangioma and significant cerebrovascular complications, including neonatal intraventricular hemorrhage, hydrocephalus, and a dural…

Clinical pearl

Clinicians should be aware that cerebrovascular complications in PHACE syndrome can develop years after initial diagnosis, necessitating ongoing surveillance.

Read case

Also worth knowing

Case ReportHematology

Blinatumomab-induced catastrophic immune effector cell-associated neurotoxicity with diffuse cerebral edema in a patient with ALL: Case report.

A 13-year-old boy with MLL-AF4-positive precursor B-ALL developed catastrophic neurotoxicity during blinatumomab therapy. After initially tolerating treatment, he experienced fever on day 13 of the second cycle, leading…

Int J Clin Pharmacol TherSep 9, 2026Read case
Case ReportNeurology

Life-threatening multisystem sarcoidosis with neurological, renal, ocular and autoimmune haemolytic manifestations treated with intravenous immunoglobulin, plasma exchange, cyclophosphamide and infliximab.

A patient with multisystem sarcoidosis presented with encephalopathy, acute tubulointerstitial nephritis, optic neuritis, and autoimmune hemolytic anemia, resembling a stroke.

BMJ Case RepSep 2, 2026Read case
Case ReportPulmonology

Pulmonary arteriovenous malformation (PAVM) with hereditary haemorrhagic telangiectasia (HHT): a rare cause of paradoxical embolic stroke.

A woman in her 40s presented with right-sided hemiparesis, and MRI revealed a left thalamic infarction. Further investigation identified pulmonary arteriovenous malformation (PAVM) associated with hereditary…

BMJ Case RepSep 1, 2026Read case
Case ReportEmergency Medicine

Clinical challenges and individualized management of hypertensive emergency complicated by acute ischemic stroke: A case report and literature review.

Three patients with chronic hypertension presented with acute ischemic stroke during a hypertensive emergency. They were diagnosed based on clinical signs and imaging.

Medicine (Baltimore)Sep 4, 2026Read case
Case ReportNeurology

Simultaneous Acute Multiple Ischemic Strokes of the Left Cerebral Hemisphere and Signs of Acute Anterior STEMI: A Case Report.

A 62-year-old man presented with right-sided limb weakness and speech difficulties, without chest pain. He was diagnosed with acute anterior ST-segment elevation myocardial infarction and acute occlusion of the left…

Am J Case RepSep 7, 2026Read case
Case ReportNeurology

Boy in the Barrel: Excruciating Paroxysmal Pain Disorder Associated With an SCN9A Gain-of-Function Variant.

A young man presented with severe childhood-onset paroxysmal pain triggered by heat, alongside autonomic dysfunction and skeletal abnormalities.

J Peripher Nerv SystSep 1, 2026Open accessRead case
Case ReportNeurology

Nonsystemic Vasculitic Neuropathy Presenting as Inflammatory Demyelinating Polyradiculoneuropathy.

A 57-year-old man presented with acute ascending weakness, sensory loss, and facial weakness following a febrile illness. Initial improvement was followed by neurological decline despite treatment.

J Peripher Nerv SystSep 1, 2026Open accessRead case
Case ReportMedical Genetics

Whole-exome sequencing reveals a novel frameshift and a recurrent nonsense SPG11 variant causing rare familial amyotrophic lateral sclerosis type 5 in two consanguineous Pakistani families.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that affects both upper and lower motor neurons, disturbing communication between the brain and muscles.

Mol Biol RepSep 1, 2026Open accessRead case
Case ReportHematology

Paraneoplastic Myopathy as a Possible Initial Presentation of Sporadic Burkitt Lymphoma in an Immunocompetent Adult: A Case Report.

An immunocompetent adult male presented with acute progressive proximal muscle weakness and elevated creatine phosphokinase levels. Extensive evaluations ruled out autoimmune and metabolic causes.

Cancer Rep (Hoboken)Sep 1, 2026Open accessRead case
Case ReportNeurology

Non-convulsive status epilepticus revealing acute deterioration in AARS2 mutation-associated progressive leukoencephalopathy.

A 41-year-old woman with AARS2 mutation-associated leukoencephalopathy presented with rapid cognitive decline and altered mental status.

NeurogeneticsSep 4, 2026Open accessRead case
Case ReportMedical Genetics

Progressive Axonal Neuropathy and Cerebellar Ataxia Associated with Homozygous Pathogenic POLG Mutation in a Patient of African Descent from Northern Minas Gerais/Jequitinhonha Valley, Brazil: A Case Report and Epidemiological Implications.

A 41-year-old man of African descent presented with progressive axonal sensorimotor neuropathy, cerebellar ataxia, dysarthria, and oculomotor abnormalities.

Tremor Other Hyperkinet Mov (N Y)Sep 4, 2026Open accessRead case

Showing 12 of 52 publications that cleared our clinical screen in the last 14 days.

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