Журнал клинических случаев

Sturge Weber Syndrome, Klippel Trenaunay or Port Wine Stain? The Challenge of Diagnosis

Abstract

Helena Lucia Barroso dos Reis

Background: Sturge-Weber and Klippel-Trenaunay are congenital disorders characterized by the presence of vascular malformation that may indicate an incomplete mild clinical presentation and even combined together. Thus, the challenge of diagnosis and the appropriate follow-up of these patients become necessary due to the possible late onset of other alterations that are characteristic in these syndromes in order to provide a better quality of life for these patients. The aim of this study was to perform a review of literature on Sturge-Weber and Klippel-Trenaunay syndromes and to describe the report of a clinical case.   Case report: A 5-year- old girl that was examined at a Stomatology Department in a Public University Hospital in the city of Rio de Janeiro – Brazil, who presented signs of one of the Sturge-Weber and Klippel-Trenaunay syndromes. She reported spontaneous nasal bleeding occasionally and oral bleeding in the area of the right mandible. Inspection showed gum hyperplasia, soft teeth and mild hypertrophy of lower left limb. The patient has been followed-up at the Clinical Genetics unit as well as the Stomatology Department.   Conclusion: This case report presents the challenges in making a diagnosis, treatment and clinical follow up on children presenting combined signs of rare congenital disorders such as Sturge-Weber and Klippel-Trenaunay syndromes.