NeurometPlus

Incidence

The syndrome is mostly sporadic but familial occurrence has been reported.

Clinical Characteristics

It is a neurocutaneous disorder manifested by facial and leptomeningeal angiomas, ipsilateral gyriform calcifications of the cerebral cortex, seizures, development delay, hemiplegia, emotional and behavioral problems, and glaucoma and other ocular disorders. Nevus flammeus on the side of the face ipsilateral to angiomatosis sometimes extends to neck, chest, and back. Angiomatosis may occasionally involve the choroid plexus, thyroid, pituitary gland, lungs, gastrointestinal organs, pancreas, ovaries, and thymus. Correlation between the distribution of the nevus and the course of the trigeminal nerve is responsible for naming the syndrome \"trigemino-encephalo-angiomatosis,\" but later findings found the relationship to be fortuitous. The syndrome frequently occurs in incomplete forms, presenting different combinations of symptoms. Sturge-Weber syndrome has three main features: cutaneous capillary angiomatosis of the face, choroidal angiomata, and leptomeningeal angiomatosis. The possibility of Sturge-Weber syndrome should be considered in neonates with cutaneous capillary angiomatosis in the distribution of the trigeminal nerve, buphthalmos or glaucoma, or seizures. The diagnosis of Sturge-Weber syndrome should be reserved for neonates with leptomeningeal angiomatosis or, in the absence of leptomeningeal angioma, for neonates with facial cutaneous capillary angiomatosis and choroid angioma. Neonates with facial cutaneous capillary angiomatosis regardless of its distribution, or choroidal angiomas alone, do not have Sturge-Weber syndrome. Facial capillary angiomatosis presents as a port-wine stain. The port-wine stain in Sturge-Weber syndrome usually involves the whole area of skin innervated by the ophthalmic branch of the trigeminal nerve, but occasionally it involves a smaller area in the distribution of the ophthalmic branch such as the inner corner of the upper eyelid, or a larger area that extends beyond the limits of the ophthalmic branch of the trigeminal nerve. Every neonate with a port-wine stain on the face should have an ophthalmological evaluation unless the port-wine stain is light colored and in the middle of the forehead just above the nose. Glaucoma is the most frequent ocular pathology. Glaucoma is usually detected in the course of a routine ophthalmologic evaluation in a neonate with a facial port-wine stain. Glaucoma may produce buphthamos. Buphthalmos may be the presenting sign of Sturge-Weber syndrome. Buphthalmos is readily diagnosed by observation and by MRI. Seizures are an unusual initial manifestation of Sturge-Weber syndrome in the neonatal period, but common in infancy and childhood. Hemiparesis and mental retardation do not usually occur in the neonatal period. Arachnoid and piamater angiomatosis usually occurs in the parietal occipital region ipsilateral to the facial angioma. Cerebral cortical atrophy often occurs in the same hemisphere as meningeal angiomatosis. Hydrocephalus due to sagittal sinus and venous obstruction may also occur. Contrast MRI of the brain may show meningeal angiomatosis even in the neonatal period. The skull x-ray finding of \"double contour\" convolutional calcifications do not occur in neonates. Sturge-Weber syndrome has a sporadic occurrence. It is considered an epileptic syndrome.

Precipitants

none

Provocation Tests

none

Diagnostic Procedures

It is a clinical diagnosis. X rays and CT scan are usually typical.