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Contralateral oculomotor nerve palsy associated with PHACES syndrome.
J AAPOS
December 2024
Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, Canada.
A 13-month-old boy presented to the pediatric ophthalmology clinic at BC Children's Hospital for strabismus assessment. On examination he had a right facial hemangioma, left ptosis, and left exotropia and hypotropia. Magnetic resonance imaging and magnetic resonance angiography of his head demonstrated posterior cerebral artery tortuosity producing mild mass effect on the left oculomotor nerve.
View Article and Find Full Text PDFClinical and radiologic distinctions between familial cavernous malformation syndrome and cerebral amyloid angiopathy.
Acta Neurochir (Wien)
December 2024
Department of Neurosurgery, Mayo Clinic, Rochester, MN, USA.
Purpose: Familial cerebral cavernous malformation syndrome (FCCM) is characterized by multiple hemorrhagic lesions and is sometimes mistaken for cerebral amyloid angiopathy (CAA).
Methods: We compared clinical and radiologic characteristics in patients with definite (N = 32) and presumed FCCM (n = 76) to patients with definite (N = 29) and probable CAA (N = 21).
Results: Patients with CAA were older (78.
Von Hippel-Lindau disease with ocular and multiple systemic findings.
BMJ Case Rep
November 2024
Ophthalmology, Mata Gujri Memorial Medical College and LSK Hospital, Kishanganj, Bihar, India.
Article Synopsis
- Von Hippel-Lindau is a rare genetic disorder with an autosomal dominant inheritance pattern, leading to multiple vascular tumors, especially in the brain, eyes, and organs.
- The disease can manifest at any age, with retinal tumors often being one of the first signs; MRI and fluorescein angiography are key diagnostic tools.
- A case study highlights a woman in her late 30s with vision loss, revealing various eye and kidney abnormalities, including cystic lesions in her brain and elevated urine protein levels.
Pediatric Spinal Vascular Abnormalities: Overview, Diagnosis, and Management.
Neuroimaging Clin N Am
November 2024
Department of Radiology, Neurology & Neurosurgery, Northwestern University Feinberg School of Medicine, Chicago, IL, USA; Section of Interventional Neuroradiology, Department of Radiology, Northwestern Memorial Hospital, 676 North Street, Clair street, Suite 1400, Chicago, IL 60611, USA.
Article Synopsis
- * Spinal cord hemangioblastomas make up a small percentage (1.1% to 2.4%) of central nervous system tumors, typically presenting as single tumors in adults around their 40s, while they are rare in children, especially those without VHL syndrome.
- * The thoracic spinal cord is the most common location for these tumors, which can lead to serious symptoms like spinal cord compression and bleeding, despite being classified as benign.
Pediatric patients with von Hippel-Lindau and hemangioblastomas treated successfully with belzutifan.
Pediatr Blood Cancer
January 2025
Division of Pediatric Hematology/Oncology, UCLA, Los Angeles, California, USA.
Article Synopsis
- * Five pediatric patients with VHL-associated hemangioblastomas were treated with belzutifan, leading to improvements in tumor size and vision for those with retinal lesions, and benefits in neurologic symptoms for patients with intracranial tumors.
- * The treatment resulted in minor side effects, such as grade 1-2 anemia in four patients, and suggests belzutifan could be a promising therapy for young patients with these tumors.
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