Background: Pediatric papilledema is a common reason for ophthalmology evaluation in high acuity emergency department and inpatient settings. This study describes the frequency of consultation, causative diagnoses, and presenting characteristics of papilledema at a tertiary care children's hospital.
Methods: All consecutive patients seen in pediatric ophthalmology consultation or diagnosed with papilledema at a large children's hospital between January 1, 2021, and August 18, 2023, were retrospectively reviewed. Patients with papilledema (disk edema from elevated intracranial pressure) were identified and included in the analysis. Clinical characteristics of their presentations and the diagnoses underlying their elevated intracranial pressures were obtained. Age stratification into three groups for additional analysis was performed.
Results: A total of 71 patients were identified with papilledema. Mean patient age was 13 ± 5.2 years (range, 0-20 years), and 68% of patients were girls. The overall rate of papilledema diagnosis among all unique patient consultations was 3.7%. Papilledema was caused by idiopathic intracranial hypertension (IIH) in 36 cases (51%), and 35 cases (49%) were due to secondary causes of IHH with serious vision- and life-threatening implications. IIH was most common in children >12 years of age, comprising 60% of papilledema cases in the age group.
Conclusions: Pediatric papilledema is associated with a wide range of extremely serious underlying conditions that require a comprehensive, multidisciplinary evaluation in an emergency setting.
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http://dx.doi.org/10.1016/j.jaapos.2025.104158 | DOI Listing |
J AAPOS
March 2025
Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia. Electronic address:
Background: Pediatric papilledema is a common reason for ophthalmology evaluation in high acuity emergency department and inpatient settings. This study describes the frequency of consultation, causative diagnoses, and presenting characteristics of papilledema at a tertiary care children's hospital.
Methods: All consecutive patients seen in pediatric ophthalmology consultation or diagnosed with papilledema at a large children's hospital between January 1, 2021, and August 18, 2023, were retrospectively reviewed.
Eur J Pediatr
March 2025
Qualitative and Quantitative Research Network in Child Neurology (RICCNeP), Bogotá, Colombia.
Unlabelled: The diagnostic accuracy of magnetic resonance (MRI) signs of intracranial hypertension (ICH) in children remains unclear. This study aims to assess how brain MRI signs of ICH correlate with cerebrospinal fluid opening pressure (CSFOP). A retrospective case-control study was conducted with 77 children aged 1 to 18 years, who underwent brain MRI and lumbar puncture with CSFOP measurement.
View Article and Find Full Text PDFJ Neurol Surg Rep
January 2025
Department of Neurosurgery, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, United States.
Subependymal giant cell astrocytoma (SEGA) is a rare neoplasm arising from subependymal tissue. Predominantly associated with the tuberous sclerosis complex (TSC), SEGA may present with a range of diverse symptoms, most commonly seizures or neurocutaneous features of TSC. We present a novel case of sporadic SEGA in a 59-year-old woman who presented with acute intraparenchymal hemorrhage (IPH).
View Article and Find Full Text PDFAm J Med Genet A
February 2025
Division of Pediatric Plastic Surgery, Case Western Reserve University, Rainbow Babies and Children's Hospital, Cleveland, Ohio, USA.
NM_000141.5: FGFR2 c.1032G>A is a pathogenic variant that causes Crouzon syndrome through activation of a new donor splice site.
View Article and Find Full Text PDFCalcif 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.
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