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682 articles
October 202624
A Case of Primary Intramedullary Infantile Fibrosarcoma With an RBPMS::NTRK3 Fusion and Response to Larotrectinib.
A 4-week-old infant presented with rapidly progressive cervical myelopathy due to primary intramedullary infantile fibrosarcoma.
Mosaicism for Cohen-Gibson Syndrome in a Female Individual With Overgrowth and Neurodevelopmental Delay.
A 12-year-old girl presented with tall stature, dysmorphic features, developmental delay, and congenital anomalies. Genetic evaluation revealed a likely pathogenic mosaic variant in the EED gene, with varying allele…
Apheresis-Triggered Torsades De Pointes in Congenital Long QT Syndrome Type 2: Citrate-Related Arrhythmia Risk and Safe Modality Switching During Myasthenic Crisis.
A 44-year-old woman with congenital long QT syndrome Type 2 presented in myasthenic crisis due to anti-MuSK-positive myasthenia gravis.
Fibrin-Heparin-Coated Intracranial Stents as Salvage Therapy in Pediatric Focal Cerebral Arteriopathy-Inflammatory Type.
A 13-year-old boy presented with progressive arterial ischemic stroke due to focal cerebral arteriopathy inflammatory type.
Calcitonin-negative 'MTC-like' thyroid paraganglioma revealing an SDHD-related hereditary paraganglioma syndrome: functional confirmation of a non-canonical splice-site variant.
A 36-year-old woman presented with a 20-mm thyroid nodule classified as EU-TIRADS 4 and Bethesda III, with normal serum calcitonin levels.
Malignant phyllodes tumour with spinal metastasis presenting as cauda equina syndrome.
A female in her early 50s with a history of borderline phyllodes tumour underwent right mastectomy and adjuvant radiotherapy.
Gestational Choriocarcinoma With Inferior Vena Cava Tumor Thrombus Formation.
A 52-year-old woman presented with recurrent nausea and vomiting, leading to the discovery of elevated serum β-hCG levels and a pelvic mass extending into the inferior vena cava (IVC).
A 6-Year-Old With Becker Muscular Dystrophy and Catatonia.
A 6-year-old boy presented with acute behavioral changes suggestive of catatonia, including altered speech and awareness. He was found to have previously undiagnosed Becker muscular dystrophy.
Continuous Renal Replacement Therapy for Cytokine Storm in Diabetic Kawasaki Shock Syndrome.
A 3-year, 10-month-old boy with poorly controlled type 1 diabetes and autoimmune thyroiditis presented with Kawasaki disease shock syndrome and diabetic ketoacidosis.
Hereditary TTP and Hemolytic Anemia in Newborns.
This case report discusses three siblings diagnosed with hereditary thrombotic thrombocytopenic purpura (hTTP) due to ADAMTS13 deficiency, presenting with severe jaundice at birth.
Black Pleural Effusion as a Rare Presentation of Serotype 3 Pneumococcal Empyema.
A previously healthy 6-year-old boy presented with severe pneumonia, leading to the discovery of a black pleural effusion during thoracentesis.
Anterior Stromal Melt Following Implantation of a Large Size Corneal Allogenic Intrastromal Ring Segment (CAIRS).
To report delayed anterior stromal melt following corneal allogenic intrastromal ring segment (CAIRS) implantation in a patient without known systemic or ocular risk factors.
Spontaneous splenic rupture in a patient with congenital factor XIII deficiency: A case report and literature review.
A 32-year-old man with congenital factor XIII deficiency presented with sudden abdominal pain and hypovolemic shock. Contrast-enhanced abdominal CT showed a large perisplenic hematoma, and surgery confirmed splenic…
Retrospective RNA Sequencing Reclassifies a Historical t(5;12) Eosinophilic Neoplasm From Presumed PDGFRB Rearrangement to ETV6::ACSL6.
A woman with a chronic eosinophilic myeloid neoplasm had a t(5;12) that raised suspicion of PDGFRB involvement, but contemporary testing did not identify a rearrangement and empiric imatinib produced no meaningful…
Trauma-related simultaneous asymmetric bilateral hip dislocation: A case report.
A 27-year-old man sustained simultaneous dislocations of both hips after high-energy trauma: the left hip was anteriorly dislocated and the right posteriorly.
Sutureless Epikeratophakia After Small Incision Lenticule Extraction: A Case Report to Correct Corneal Deformity.
An 18-year-old woman developed severe corneal thinning, with a residual stromal bed of 176 μm, and irregular hyperopic astigmatism in her left eye after a femtosecond laser malfunction during keratorefractive lenticule…
Resistant Hypertension Secondary to Renal Arteriovenous Malformation: A Case of Cure After Nephrectomy.
A 33-year-old woman with longstanding uncontrolled hypertension requiring five antihypertensive agents was evaluated for refractory blood pressure control.
Pembrolizumab plus Chemotherapy for Synchronous Multiple Primary Esophageal and Gingival Squamous Cell Carcinomas.
A 68-year-old man presented with synchronous squamous cell carcinomas of the esophagus and mandibular gingiva. He received pembrolizumab combined with cisplatin and 5-fluorouracil, leading to a clinical complete…
Pediatric Guillain-Barré Syndrome Post Organ Transplant: Acute and Chronic Complication Requiring High Index of Suspicion.
Two pediatric patients developed Guillain-Barré syndrome (GBS) following organ transplantation. The first patient experienced rapid weakness post-liver transplant amid organ failure and adenovirus infection, showing…
How I do it: meningioangiomatosis of the sylvian fissure. The need for a tailored functional neurosurgery.
A patient with drug-resistant epileptic seizures presented with meningioangiomatosis located in the right sylvian fissure, affecting the M1-M2 segments of the right middle cerebral artery.
Modified tibiofibular synostosis vs. Burgess stump in a bilateral amputee: a case report.
A bilateral transtibial amputee had a modified tibiofibular synostosis (TFS) stump on the right and a conventional Burgess-type stump (BTS) on the left.
Variants in CEP135 Cause Congenital Microcephaly and Primary Ciliary Dyskinesia.
Three children from two families presented with congenital microcephaly and chronic respiratory issues consistent with primary ciliary dyskinesia (PCD). Diagnostic testing revealed autosomal recessive variants in CEP135.
Temporary Mesocaval Bypass During Pancreaticoduodenectomy for Pancreatic Cancer With Portal Vein Occlusion: A Case Report.
A 79-year-old man with locally advanced pancreatic cancer and complete portal vein occlusion underwent pancreaticoduodenectomy after showing a favorable response to preoperative therapy.
Identification of Variants in Two Families With Congenital Cataract by Whole Exome Sequencing.
Congenital cataract (CC) is an ophthalmic disorder diagnosed at birth or during early infancy, characterized by severe visual impairment and potential blindness.
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