Ciliochoroidal ganglioneuroma in neurofibromatosis type 1: Report of a case and review of the literature

Abdulkader, Marwah M.; Dalesandro, Mark F.; Mendenhall, Stephen K.; Shah, Mitesh V.; Bonnin, José M.

doi:10.1111/neup.12286

Cited by 9 publications

(6 citation statements)

References 23 publications

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“…Although the cases highlighted in this series are not an exhaustive list, several features were identified in our cohorts that should be considered "red flags" for cancer predisposition syndromes among children with craniofacial differences THE JOURNAL OF PEDIATRICS www.jpeds.com Volume - 18 Marrelli et al, 49 31 Cung et al, 32 Overdiek Thalakoti et al, 13 Evans et al, 14 Evans 40 German et al 41 1993; 1969 Rothmund-Thomson, Baller-Gerold (#268400, #218600) (Can be unique entities but our patient had one mutation classic for each and an overlapping phenotype).…”

Section: Discussionmentioning

confidence: 95%

Role of Pediatric Geneticists in Craniofacial Teams: The Identification of Craniofacial Conditions with Cancer Predisposition

Wenger

Earl

Chow

et al. 2016

The Journal of Pediatrics

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Section: Discussionmentioning

confidence: 95%

Role of Pediatric Geneticists in Craniofacial Teams: The Identification of Craniofacial Conditions with Cancer Predisposition

Wenger

Earl

Chow

et al. 2016

The Journal of Pediatrics

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“…1 The most common sites of involvement are the posterior mediastinum, retroperitoneum, and adrenal glands. 2 Typically, GN is a unilateral, solitary, painless, slow-growing mass. Occasionally, it can grow into the spinal canal, causing severe compression symptoms.…”

Section: Referencesmentioning

confidence: 99%

Cervical Ganglioneuroma Associated With Neurofibromatosis Type 1

Wang,

Niu,

Zhai

2024

Journal of Craniofacial Surgery

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Cervical ganglioneuroma combined with neurofibromatosis type I is very rare. This article reports a case of a 21-year-old male patient with a rare presentation of cervical ganglioneuroma and neurofibromatosis type I. In this patient, the tumors on both sides of the cervical spine were surgically removed with good results. The effects and advantages of surgery when both diseases coexist are discussed, as well as further investigation into possible causal relationships between these two pathologies.

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“…Ganglioneuromas have been reported in the orbit, vertebral spines, liver, and lung but are extremely rare in the choroid. A literature search revealed only 13 published case reports [6][7][8][9][10][11][12][13][14][15][16][17][18]. In all of those cases, blindness and eye pain were present, and ganglioneuroma was not initially suspected.…”

Section: Introductionmentioning

confidence: 99%

Multimodal Imaging Features of Bilateral Choroidal Ganglioneuroma

Jiang

Zhang

Liu

et al. 2020

Journal of Ophthalmology

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Purpose. Bilateral choroidal ganglioneuroma is extremely rare, and no cases have been described in the literature. Multimodal images are crucial for its diagnosis. Here, we evaluated multimodal images in the early stage of choroidal ganglioneuroma. Methods. A 6-year-old boy was recruited who had experienced gradually progressive vision loss and rapidly progressive myopia in both eyes over the past 2 years. His eyes were comprehensively evaluated via slit-lamp microscopy, ultrasound biomicroscopy, swept-source optical coherence tomography (SS-OCT), fundoscopy, fundus fluorescein angiography, indocyanine green angiography (ICGA), ultrasound B scanning, and magnetic resonance imaging. Electrophysiological examinations included electrooculography and electroretinography. Choroid biopsy and pathological examination were performed. Results. Over the past 2 years, the patient’s best-corrected visual acuity had gradually decreased to hand motions at 10 cm in the right eye and 20/63 in the left, with axial length growth to 25.89 mm in the right and 28.99 mm in the left. Diffuse thickening in bilateral eyewalls was depicted in B scanning and magnetic resonance imaging. Secondary exudative retinal detachment was evident in SS-OCT and B scanning. SS-OCT depicted low optical reflections in the choroidal layer, revealing a lack of choroidal vasculature. Diffuse hypofluorescence in ICGA photography confirmed extensive loss of choroidal vasculature. In electrophysiological function investigations, electrooculography revealed remarkable bilateral low Arden ratios, with almost extinguished electroretinogram in the right eye. Right-eye choroid biopsy was performed, resulting in a histological diagnosis of choroidal ganglioneuroma. Conclusion. Choroidal ganglioneuroma is rare. To our knowledge, no bilateral cases have been described in the literature. Major clinical features include a rapid increase in axial length, diffuse choroidal thickening, hyper-reflectivity in the choroid on optical coherence tomography, and loss of choroidal vasculature on ICGA. The current report provides multimodal imaging of choroidal ganglioneuroma for the first time and can be valuable for early diagnosis.

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Ciliochoroidal ganglioneuroma in neurofibromatosis type 1: Report of a case and review of the literature

Cited by 9 publications

References 23 publications

Role of Pediatric Geneticists in Craniofacial Teams: The Identification of Craniofacial Conditions with Cancer Predisposition

Role of Pediatric Geneticists in Craniofacial Teams: The Identification of Craniofacial Conditions with Cancer Predisposition

Cervical Ganglioneuroma Associated With Neurofibromatosis Type 1

Multimodal Imaging Features of Bilateral Choroidal Ganglioneuroma

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