A Three Year Old Female Child with Type -1 Sturge-Weber Syndrome: A Case Report
Journal Title: Scholars Journal of Medical Case Reports - Year 2014, Vol 2, Issue 9
Abstract
Sturge-Weber Syndrome (SWS) is a neuro-cutaneous disorder characterized by angiomas of face and the central nervous system. These angiomas, are the hallmark of SWS. While other phacomatoses are hereditary in nature, SWS occurs sporadically and with a frequency of 1 in 50,000. Mutations in GNAQ gene result in altered structure and innervation of cerebral vasculature. A three year old female child presented with recurrent seizures from infancy. General physical examination revealed several hyper-pigmented macules over the trunk and both lower limbs. A purple coloured port wine stain was found on the right side of the face. Imaging (Contrast enhanced CT) of the brain showed extensive pial enhancement in the right parieto-occipital lobe. MRI brain depicted ipsilateral enlargement of choroid plexus, characteristic finding of Sturge weber syndrome. We report a rare case of type 1 SWS with ipsilateral choroid plexus enlargement and typical pial enhancement. Keywords: Sturge-Weber Syndrome, Port wine stain, Neuro-Cutaneous Disorder, Encephalo-Trigeminal Angiomatosis, Fibronectin
Authors and Affiliations
Report J. Narsing Rao, Swathi Chacham, U. Narayan. Reddy, Naila mazher, Afreen . , Jakkampudi NagaSravani
Keywords
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