Klippel Treunanay Syndrome in differential diagnosis of cerebral palsy

Abstract

Klippel Treunanay Syndrome is a rare disorder characterised by congenital vascular malformations and hypertrophy of soft tissues and bones. Here we report a 5-yearold child who was referred to our department of pediatric neurology with an initial diagnosis of cerebral palsy because of difficulty in walking and unilateral atrophy of his extremities. Detailed physical examination revealed left hemihypertrophy and port-wine stain. With these findings and venous malformations of the brain he had a final diagnosis of Klippel Treunanay Syndrome. While investigating cerebral palsy (CP) in children experiencing difficulty in walking, a detailed physical examination should be performed and accompanying unilateral hypertrophy and skin findings should suggest the presence of Klippel Treunanay Syndrome.