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Antithrombin III deficiency and idiopathic intracranial hypertension: a case report.
J Med Case Rep
January 2025
Headache Department, Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
Background: Idiopathic intracranial hypertension (IIH) is a condition where the pressure of the cerebrospinal fluid in the brain increases without a known cause. It typically affects adults but can also occur in adolescents and children, although it is less common. Numerous elements, including coagulopathy, have been documented in previous cases as potential etiological factors of IIH.
View Article and Find Full Text PDFBase of Skull & Spinal Canal Narrowing in an Adolescent with Autosomal Recessive Hypophosphatemic Rickets Type 2.
Calcif Tissue Int
January 2025
Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is an uncommon hereditary form of rickets characterised by chronic renal phosphate loss and impaired bone mineralisation. This results from compound heterozygous or homozygous pathogenic variants in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), a key producer of extracellular inorganic pyrophosphate (PPi) and an inhibitor of fibroblast growth factor23 (FGF23). ENPP1 deficiency impacts FGF23 and increases its activity.
View Article and Find Full Text PDFCraniosynostosis as a cause of intracranial hypertension in Alagille syndrome: a case series of 6 consecutive pediatric patients.
Neurosurg Focus
January 2025
1Department of Pediatric Neurosurgery, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris.
Objective: Craniosynostoses are an underrecognized cause of intracranial hypertension (ICH), especially when associated with congenital syndromes. Alagille syndrome (ALGS) is a multisystem disorder with typical facial features and hepatobiliary, cardiac, vascular, skeletal, and ocular manifestations. The occurrence of craniosynostosis in ALGS is rare and can be associated with chronic ICH, requiring craniofacial surgery to increase the intracranial volume.
View Article and Find Full Text PDFStenting versus balloon angioplasty alone for idiopathic intracranial hypertension.
Quant Imaging Med Surg
December 2024
Department of Interventional Radiology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Background: Stenting is a common approach for treating idiopathic intracranial hypertension (IIH) and venous sinus stenosis (VSS). However, studies comparing stenting with balloon angioplasty alone are lacking. This study sought to compare the clinical efficacy of balloon angioplasty and stenting in the treatment of IIH and VSS.
View Article and Find Full Text PDFUnilateral hemicraniectomy with titanium cranioplasty for the treatment of high intracranial pressure in a pediatric patient with Camurati-Engelmann disease: illustrative case.
J Neurosurg Case Lessons
December 2024
Division of Neurosurgery, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California.
Background: Camurati-Engelmann disease (CED) is an extremely rare autosomal dominant genetic disorder that can cause increased intracranial pressure (ICP) secondary to cranial hyperostosis, which decreases intracranial volume. Surgical procedures to reduce ICP in medically refractory cases include intracranial volume expansion and ventriculoperitoneal shunting.
Observations: The authors present the case of a pediatric patient with CED and medically refractory increased ICP who underwent unilateral hemicraniectomy with titanium cranioplasty, resulting in a complete long-term resolution of symptoms.
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