A baby is born with a large red, raised discoloration of the face that persists into adulthood. This type of lesion is most likely a component of which of the following syndromes?
The lesion is a po wine stain, which is a vascular lesion that, unlike the more common strawberry nevus, does not usually regress with age. These lesions can be a component of Sturge-Weber disease, which can also include similar vascular lesions of the meninges (leptomeningeal angiomatosis) and sometimes cutaneous angiomatosis at other sites. Arnold Chiari malformations are a cluster of related brain and spinal cord malformations in which there is a downward displacement of the cerebellar vermis and tonsils into the foramen magnum. Dandy-Walker malformation includes a distended fouh ventricle with a hypoplastic (or absent) cerebellum. Neurofibromatosis includes benign and malignant peripheral nerve lesions and cafe au lait spots. Ref: Ropper A.H., Samuels M.A. (2009). Chapter 38. Developmental Diseases of the Nervous System. In A.H. Ropper, M.A. Samuels (Eds), Adams and Victor's Principles of Neurology, 9e.
Arnold Chiari malformation
Dandy-Walker malformation
Neurofibromatosis
Sturge-Weber disease