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Purpose: Carotid-cavernous fistulas (CCFs) are abnormal connections between the carotid artery and cavernous sinus, often causing ocular symptoms like chemosis, proptosis, and diplopia. Endovascular embolization is the preferred treatment, typically performed via the transfemoral transvenous route through the inferior petrosal sinus (IPS). However, we present a case and a systematic review of indirect CCF treated through deep orbital puncture of the superior ophthalmic vein (SOV) for embolization.
View Article and Find Full Text PDFMultidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome.
Orphanet J Rare Dis
January 2025
Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Background: Sturge-Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation, leptomeningeal vascular malformation, and ocular involvement. The spectrum of clinical manifestations includes headache, seizures, stroke-like events, intellectual disability, glaucoma, facial asymmetry, gingival hyperplasia, etc.
View Article and Find Full Text PDFA Rare Pediatric Giant Cell Tumor of the Clivus Bone, H3.3 p.Gly35Trp-mutated: Case Report and Mini-review of the Literature.
Turk Arch Pediatr
January 2025
Pathology Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Introduction: Giant cell tumor of bone (GCTB) is a rare, typically benign neoplasm that primarily affects long bones in adults, with clival involvement being extremely rare, particularly in pediatric cases: a mini-review shows a total of 28 described cases, of which only 5 were truly pediatric (within 14 years of age). Surgery is the treatment of choice, and Denosumab is reported to be the most effective drug therapy. To date, the GCTB's molecular hallmark is the somatic mutation p.
View Article and Find Full Text PDFPediatric Orbital High-Grade B-Cell Lymphoma: A Case Report and Review of the Literature.
Ophthalmic Plast Reconstr Surg
December 2024
Department of Ophthalmology.
Ocular involvement of lymphoma may present as a primary orbital or intraocular lymphoma or as a manifestation of metastatic disease. Involvement of various ocular structures may be difficult to diagnose due to its rarity and nonspecific clinical presentation. Primary high-grade B-cell lymphoma with MYC and BCL2 rearrangements of the orbit has rarely been reported in the adult population and has not previously been reported in the pediatric population.
View Article and Find Full Text PDFHow to distinguish spinocerebellar ataxia 27B from late onset cerebellar ataxia: insights from a case-control study.
J Neurol
December 2024
Neurology Department University Hospital of Toulouse, Clinical Investigation Center CIC 1436, Parkinson Expert Centre, NeuroToul Center of Excellence in Neurodegeneration (COEN) of Toulouse, CHU of Toulouse, Inserm, University of Toulouse 3, Toulouse, France.
Background: Spinocerebellar ataxia 27B is the most common genetic late onset cerebellar ataxia (LOCA). However, it commonly overlaps with other genetic LOCA as with the cerebellar form of multiple system atrophy (MSA-C).
Objectives: To pinpoint which clinical signs and symptoms best discriminate between FGF14 + from FGF14 - patients at symptoms' onset.
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