| Literature DB >> 28978576 |
Muhammad Arif Saeed1, Kiran Hilal1, Prem Chand2.
Abstract
Sturge Weber syndrome also known as mother spot disease belongs to a group of disorders called phakomatoses (neurocutaneous syndromes involving the central nervous and cutaneous systems). It is a congenital disorder of the vasculature of the meninges, brain, face and eyes. Clinically, it usually presents with seizures and other neurological complications, including mental retardation, contralateral hemiparesis and glaucoma. Its incidence is estimated at one case in 20 000-50 000 persons with equal frequency in boys and girls. We present a case of 18-months-old boy was brought by parents with history of seizures since birth resulting in fall 1 day back. Physical examination showed bilateral port-wine stain on face. CT head examination revealed bilateral intracranial calcification. This is a highly unusual presentation of Sturge Weber syndrome. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.Entities:
Keywords: neurology; paediatrics; paediatrics (drugs and medicines); radiology
Mesh:
Year: 2017 PMID: 28978576 PMCID: PMC5652342 DOI: 10.1136/bcr-2017-219985
Source DB: PubMed Journal: BMJ Case Rep ISSN: 1757-790X