Clinical significance of lesion distribution in children with Sturge-Weber syndrome / 中华皮肤科杂志

ABSTRACT

Objective:To analyze distribution characteristics of facial port-wine stains and brain imaging features in children with Sturge-Weber syndrome (SWS) .Methods:Clinical and imaging data were collected from 22 children with confirmed SWS at Department of Dermatology, Children′s Hospital Affiliated to Capital Institute of Pediatrics from July 2017 to August 2020, and retrospectively analyzed. The distribution characteristics of port-wine stains along the facial trigeminal nerve and brain imaging features were investigated in these children with SWS.Results:Among the 22 children, 10 were males and 12 were females. Their age ranged from 0.08 to 9.92 years, and the median age was 1.67 years. There were 13 cases of SWS type Ⅰ and 9 cases of SWS type Ⅱ. In terms of the port-wine stain type, 4 children aged from 0.50 to 2.17 years were diagnosed with pink port-wine stains; 14 children aged from 0.08 to 8.83 years were diagnosed with purple port-wine stains; 4 children aged from 4.92 to 9.92 years were diagnosed with thickened port-wine stains. Port-wine stains were distributed in the ophthalmic (V1) division of the trigeminal nerve in 22 patients, in the maxillary (V2) division in 20 patients, and in the mandibular (V3) division in 8 patients. There were 17 children with ocular abnormalities, aged from 0.08 to 9.92 years, including 11 with glaucoma, 5 with elevated intraocular pressure and 2 with visual impairment. Among the children with glaucoma, 7 developed glaucoma within 2 years of age, 8 suffered from unilateral glaucoma, and 3 from bilateral glaucoma, and glaucoma occurred on the same side as port-wine stains. Brain imaging abnormalities were observed in 12 children, and mainly included vascular malformations in the cerebral cortex involving the frontal, parietal, temporal and occipital lobes, as well as cerebral atrophy, punctate hemorrhage, calcification, sulcal widening, midline deviation and increased intraventricular choroid plexus vessels. Eleven children had symptoms of epilepsy and other neurological manifestations, including developmental delay, mental retardation and physical impairment.Conclusion:Port-wine stains distributed in the V1 and V2 divisions of the facial trigeminal nerve may indicate a higher risk of SWS, and ophthalmic and brain imaging screening as well as long-term follow-up should be performed.