SynthesisChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2025
Beyond papilledema: optic disc clues reveal coexisting Chiari I malformation and osteopetrosis-a case report and systematic review.
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Abstract
purposeTo report a rare case of coexisting Arnold-Chiari malformation type I (CM-I) and osteopetrosis revealed by incidental optic disc elevation, and to review the literature on similar presentations to highlight diagnostic challenges and the role of fundoscopic examination.
methodsWe describe a 22-year-old female with incidental bilateral optic disc edema discovered during ophthalmoscopy training. Despite normal visual acuity and absence of visual symptoms, further imaging revealed Chiari I malformation and osteopetrosis. Optical coherence tomography and fluorescein angiography showed disc elevation without leakage, and no lumbar puncture was performed due to herniation risk. A systematic review of 17 publications encompassing 22 cases was conducted to assess the prevalence and documentation of optic disc findings in similar cases.
resultsThe patient underwent suboccipital decompression and C1 laminoplasty, resulting in headache resolution but persistent optic disc elevation at 3-year follow-up. Literature review revealed that optic disc findings were underreported, with only 13.7% of cases showing papilledema and 40.9% lacking fundus documentation. No prior reports described anomalous optic discs mimicking papilledema in this dual pathology.
conclusionsThis case highlights the diagnostic value of fundoscopic examination in uncovering serious underlying conditions. Anomalous optic discs mimicking papilledema may represent an underrecognized manifestation in patients with Chiari I malformation and osteopetrosis.
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