Sturge-Weber Syndrome and Type 1 Neurofibromatosis: A Chance Association?

Rodríguez-Bujaldón, A.; Vázquez-Bayo, C.; Jiménez‐Puya, R.; Moreno‐Giménez, J.C.

doi:10.1016/s1578-2190(08)70260-9

Cited by 5 publications

(2 citation statements)

References 39 publications

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“…There are many case reports of simultaneous occurrence of NF1 with tuberous sclerosis [4]. We found a few case reports of NF-1 with SWS diagnosed in adults [5][6][7]. No such case has been diagnosed in childhood.…”

Section: Discussionmentioning

confidence: 81%

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A rare association of neurofibromatosis type 1 with Sturge-Weber syndrome

et al. 2015

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Neurocutaneous syndromes like neurofibromatosis type 1 (NF-1) and Sturge-Weber syndrome are seen in children with variable frequency. It is uncommon to have two such syndromes in an individual. We report a 9-year-old boy who presented with left focal seizures and left hemi-paresis. He had 19 caf?-au-lait spots along with a port-wine stain in right upper and mid part of his face. His magnetic resonance imaging of brain revealed hamartomatous foci in bilateral globi pallidi, right parietal pial angiomatosis with ipsilateral choroid plexus enhancement. His mother was diagnosed with NF-1. On the basis of these clinico-radiological criteria, he was diagnosed as NF-1 with Sturge-Weber syndrome which is a rare combination. Such associations can stimulate further research regarding the pathogenesis of neurocutaneous syndromes.

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Section: Discussionmentioning

confidence: 81%

“…The concomitant occurrence of these two disorders can be hypothesized as follows- [3,5,[7][8][9]: (a) It may be a chance occurrence as NF1 has a high incidence and these two disorders do not share a common genetic defect, pathogenesis or inheritance. (b) It may be a variant of NF1 wherein certain genes have modified the phenotype.…”

Section: Discussionmentioning

confidence: 99%

A rare association of neurofibromatosis type 1 with Sturge-Weber syndrome

et al. 2015

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A Rare Association of Sturge Weber Syndrome with Neurofibromatosis Type-1

et al. 2018

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Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: A case report highlighting the role of multimodal imaging and a brief review of the literature

Formisano

Abdolrahimzadeh²,

Mollo

et al. 2019

Journal of Current Ophthalmology

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Purpose To present a patient with bilateral choroidal hemangioma in Sturge-Weber syndrome (SWS) and highlight multimodal imaging techniques for early detection and management of ocular alterations. Methods A 37-year-old woman with diagnosis of SWS presented to our unit. The patient had been treated with pulsed dye laser for bilateral nevus flammeus and had right leptomeningeal angiomatosis. She had glaucoma, but ultrasound biomicroscopy did not show anterior chamber or ciliary body alterations. Results Enhanced depth imaging (EDI) spectral domain optical coherence tomography (SD-OCT) showed bilateral diffuse choroidal hemangiomas in both eyes with choroidal thickness above 1000 μm. B-scan ultrasound examination showed diffuse choroidal hemangioma in both eyes, with a choroidal thickness of 1.53 mm and 1.94 mm in the right and left eye (RE, LE), respectively. Peripapillary retinal nerve fiber evaluation showed thinning of the retinal nerve fiber layer in both eyes. Conclusions This report highlights multimodal imaging techniques for the critical assessment of patients with SWS, especially in rare cases with bilateral choroidal hemangioma of the choroid. Novel imaging modalities enable optimal management and follow-up of rare conditions, and our case adds further evidence to the existing literature.

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Sturge-Weber Syndrome and Type 1 Neurofibromatosis: A Chance Association?

Cited by 5 publications

References 39 publications

A rare association of neurofibromatosis type 1 with Sturge-Weber syndrome

A rare association of neurofibromatosis type 1 with Sturge-Weber syndrome

A Rare Association of Sturge Weber Syndrome with Neurofibromatosis Type-1

Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: A case report highlighting the role of multimodal imaging and a brief review of the literature

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