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Πέμπτη 18 Ιανουαρίου 2018

Angiodysplastic Sturge Weber syndrome

Description

A 3-year-old boy presented with global developmental delay, abnormal craniofacial growth and left focal seizures since infancy. He was the first child of a non-consanguineous couple with unremarkable perinatal period. Family history was non-contributory. On examination, he had macrocephaly (head circumference 55 cm, >3 z-score), extensive port-wine stain distributed bilaterally over the face and the trunk, cloverleaf-shaped skull with facial distortion (figure 1A), marked gingival hyperplasia with dental malocclusion (figure 1B), bilateral blue sclera with tortuous engorged veins, brisk muscle stretch reflexes, left hemiparesis and bilateral Babinski's sign. The rest of the systemic examination was unremarkable. A clinical diagnosis of angiodysplastic variant of Sturge Weber syndrome (SWS) with extensive bilateral facial and truncal port-wine stain, glaucoma and focal epilepsy was considered. CT of the brain revealed right-sided subcortical tram-track calcification and concordant parenchymal volume loss (figure 1C). MRI of the brain showed right-sided...



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