There are multiple modalities by which trauma occurs to the neck. One of these includes minor suction trauma which usually results in a superficial bruising of the skin. While this usually self-resolves, patients with hemophilia are at higher risk for the development of bleeding from such trauma. Hematomas of the head and neck in patients with hemophilia have seldom been reported. We report a unique case of expanding bilateral neck hematomas secondary to suction trauma in a patient with Hemophilia A with high-titer inhibitor and highlight the importance of a multidisciplinary approach in the management of this complex patient.
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http://dx.doi.org/10.1016/j.ijporl.2010.04.003 | DOI Listing |
Cureus
November 2024
Neurology, Dalhousie University, Halifax, CAN.
This case report discusses a unique presentation of an artery of Percheron (AOP) infarct resulting in rapidly resolving internuclear ophthalmoplegia (INO) without classical signs. This is the case of a 70-year-old male patient who presented to a community Emergency Department following acute code stroke activation. Physical exam and imaging studies including non-contrast CT, CT angiography, CT perfusion, and MRI were performed.
View Article and Find Full Text PDFEur J Neurol
January 2025
Service de Génétique Médicale, CHU Bordeaux, Bordeaux, France.
Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST.
Methods: Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder.
J Surg Case Rep
January 2025
General Surgery Department, St. Joseph's University Medical Center, Paterson, NJ, United States.
Hibernomas are rare, benign neoplasms characterized by the presence of brown adipose tissue. Although these tumors may arise in any region of brown fat, they predominantly occur in the thigh, shoulder, back, and neck. Hibernomas are rarely found in mammary tissue, with a higher prevalence in females than males.
View Article and Find Full Text PDFEpilepsia
December 2024
Department of Pediatric Neurology, Second Faculty of Medicine, Charles University and Motol University Hospital, full member of the European Reference Network EpiCARE, Prague, Czech Republic.
Objective: We comprehensively characterized a large pediatric cohort with focal cortical dysplasia (FCD) type 1 to expand the phenotypic spectrum and to identify predictors of postsurgical outcomes.
Methods: We included pediatric patients with histopathological diagnosis of isolated FCD type 1 and at least 1 year of postsurgical follow-up. We systematically reanalyzed clinical, electrophysiological, and radiological features.
Mol Genet Metab Rep
December 2024
Eye Center, the Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Background: Variants in have been reported to be associated with Leigh syndrome. However, further expansion of the -phenotype and variants spectrum of -related Leigh syndrome are still required.
Methods: Two patients diagnosed with Leigh syndrome were recruited, and whole-exome sequencing was performed to identify the genetic variants responsible for the abnormal gait, dystonia, and bilateral basal ganglia lesions, followed by validation using Sanger sequencing.
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