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Abstract #46745 Published in IGR 13-3
Sturge-weber syndrome study of 70 patients
Cordisco MR; Lanoel A; Perez F; Da Col E; Arroyo H; Peersico SPediatric Dermatology 2010; 27: 586
Sturge-Weber (SWS) is a congenital and sporadic syndrome and itis defined by the association of a facial capillary malformation (port- wine stain) with a vascular malformation of the brain (leptomeningeal malf.) and/or vascular malformation of the eye. Purpose: To review the clinical and neuroimaging features of a large series of patients with (SWS) seen over a 22-year period. Methods: Seventy patients with SWS (36 males and 34 females), were studied between 1987 and 2009. Results of neurological and ophthalmological examinations, electroencephalographic, and neu- roimaging studies were reviewed. Inclusion criteria: presence of facial PWS associated neuroimaging evidence of leptomeningeal malformations and /or glaucoma. We have included nullincompletenull forms of SWS, in which only two components of the triad were present, such as a port wine stain and glaucoma without intracranial involvement. Results: The age at presentation to the hospital was between 13 days and 11 years old. Of the 70 patients 30 patients had oph- thalmological and brain involvement, 23 only brain involvement, and 17ophthalmological involvements.PWS was unilateral in 50 (71.2%) patients, bilateral in 18 (26%) and on midline location in two (2.8%). All the patients had VI involvement .Five of the 18 patients with bilateral PWS had bilateral leptomeningeal malformation. Seizures occurred in 47 patients and mental delay in 32.Seizure control was obtained with oral medication. None of our patient required lobec- tomy. Glaucoma was the main ocular disease observed in 48 patients. It was unilateral in 43 patients and always ipsilateral to PWS. The glaucoma was bilateral in five patients with four having associated bilateral PWS, and one unilateral PWS. Five patients had associated Phakomatosis pigmentovascularis and two had Klipel Trenaunay syndrome. Conclusions: SWS is a progressive disease, epilepsy, hemi paresis, mental retardation and ocular problems were the most frequent and severe features observed in this series. No relationship was observed between the size of the PWS and the severity of the brain lesion.
M.R. Cordisco. Hospital de Pediatria Garrahan, Argentina.
Classification:
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
