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Reduced white matter integrity and disrupted brain network in children with type 2 and 3 spinal muscular atrophy.
J Neurodev Disord
January 2025
Department of Radiology, The First Affiliated Hospital of Sun Yat-sen University, No 58 Zhongshan 2nd Road, Guangzhou, 510080, China.
Background: Spinal muscular atrophy (SMA) is caused by reduced expression of survival motor neuron (SMN) protein. Previous studies indicated SMA causes not only lower motor neuron degeneration but also extensive brain involvement. This study aimed to investigate the changes of brain white matter and structural network using diffusion tensor imaging (DTI) in children with type 2 and 3 SMA.
View Article and Find Full Text PDFDelayed Sensory Exotropia With Retained Metallic Intraorbital Foreign Body.
J Pediatr Ophthalmol Strabismus
January 2025
This report describes the longest case of a retained metallic intraorbital foreign body with no complications and development of delayed sensory exotropia following traumatic sclopetaria in childhood. A 9-year-old girl suffered a BB gun injury to the left eye, leading to chorioretinitis sclopetaria and loss of vision. The visual acuity was 20/800 with a relative afferent pupillary defect and choroidal rupture with subretinal hemorrhage that evolved to sclopetaria over time.
View Article and Find Full Text PDFH syndrome with bilateral choroidal osteoma: Coincidence or association?
Eur J Ophthalmol
January 2025
Department of Medical Genetics, Istanbul Medipol University, Istanbul, Turkey.
Purpose: To report a case with bilateral corneal arcus and bilateral choroidal osteoma associated with H syndrome.
Methods: Descriptive case report.
Results: A 16-year-old girl with H syndrome was followed up in the pediatric nephrology clinic for chronic renal failure and was consulted to the ophthalmology clinic.
Age-stratified anatomical differences of orbital floor and medial orbital wall blowout fractures.
Graefes Arch Clin Exp Ophthalmol
January 2025
Department of Oculoplastic, Orbital & Lacrimal Surgery, Aichi Medical University Hospital, 1-1 Yazako-Karimata, Nagakute, Aichi, 480-1195, Japan.
Purpose: To define the anatomical variance between orbital floor and medial orbital wall blowout fractures, and its change with age.
Methods: This was a retrospective, observational study analyzing data from 557 patients with isolated blowout fractures of the orbital floor or medial orbital wall. Axial and quasi-sagittal CT images were analyzed to compare radiologic data on orbital wall morphology between fracture site groups and among age groups.
Tolosa-Hunt syndrome in children and adolescents: A systematic review.
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Bangalore Medical College and Research Institute, Bangalore, India.
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Background: Tolosa-Hunt syndrome is a rare headache disorder caused by idiopathic inflammation of the cavernous sinus, orbital apex, or orbit, resulting in neuro-ophthalmological manifestations. It is uniquely characterized by cranial nerve palsies and often responds well to steroids.
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