Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025
Beyond papilledema: optic disc clues reveal coexisting Chiari I malformation and osteopetrosis-a case report and systematic review.
СтатьяКлинический случайСистематический обзорПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Ошибки и ограничения
История · было → стало
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Yang Sheng-Chi, Hsu Sheng-Min, Chang Yi-Sheng
Аннотация
PURPOSE: To 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.
METHODS: We 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.
RESULTS: The 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.
CONCLUSIONS: This 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.
METHODS: We 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.
RESULTS: The 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.
CONCLUSIONS: This 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.