Sturge-Weber Syndrome

A neurocutaneous syndrome characterized by the presence of vascular tumors of the face (facial hemangioma and nevus flammeus, usually called “port-wine stain”), ipsilateral vascular anomalies (angioma of the meninges and choroid), and intracranial calcifications. Other clinical features include contralateral hemiparesis, hemianopia, and severe seizures. This nevus flammeus of the face corresponds to the ophthalmic division of the trigeminal nerve. All organs can be involved.

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Fourth Phacomatosis Syndrome; Dimitri Disease; Jahnke Syndrome; Kalischer Syndrome; Lawford Syndrome; Müller Syndrome; Parkes Weber Syndrome; Parkes, Weber, and Dimitri Syndrome; Schirmer Syndrome; Sturge Disease; Sturge Syndrome; Sturge-Kalischer-Weber Syndrome; Sturge-Weber Angiomatosis; Sturge-Weber-Dimitri Syndrome; Sturge-Weber-Krabbe Syndrome; Weber Syndrome; Weber-Dimitri Syndrome.

First described by the English physician William Allen Sturge, English physician in 1879. Frederick Parkes Weber, also an English physician, deserves credit for the description of intracranial calcifications in 1922. Vincente Dimitri, Austrian dermatologist, and S. Kalischer, German physician, provided further insights in the disease.

1:50,000 live births; male:female ratio is equal. The facial nevus is present at birth, and the age of onset for seizures is younger than 1 year.

Unknown (autosomal dominant inheritance has been evocated). Almost all incidences are sporadic cases.

Unknown. It is likely that an acquired vascular abnormality arises early in development. The localization of aberrant vasculature in the meninges, facial skin, and eyes is consistent with a defect arising in a limited part of the cephalic neural crest, with cells migrating to the pia mater, choroid, and supraocular dermis. The basic lesion consists of ipsilateral angiomas. The distribution of the leptomeningeal vascular anomalies is in the following order: occipital > parietal > temporal > frontal regions. The sluggish flow of blood in these affected regions may lead to anoxic injury in the underlying cortex, mental retardation, hemiparesis, and hemianopia.

Clinical; characterized by nevus flammeus of the face and angioma of the meninges. Presence of a port-wine stain on the face in the appropriate distribution is supported by imaging on CT scan and MRI of angiomas. Radiography shows intracranial calcifications in 90% of cases (railroad track pattern) by late childhood. The radiological characteristic of the calcifications is described as a “railroad track pattern” (curvilinear, parallel configuration). The facial nevus distribution corresponds to V1 (upper face, superior eyelid, and supraorbital region) but may also involve V2 and V3 and cross the midline. May cause hypertrophy of the involved areas and the nasopharynx (bleeding).

This syndrome involves brain (seizures, macrocephaly, cerebral cortex atrophy, paraparesis or quadriparesis, mental retardation, intracranial calcifications), skin (hemangioma-capillary, hemangioma-cavernous), and eyes (coloboma of iris, glaucoma, and choroids calcification with buphthalmos). Coarctation of the aorta, visceral angiomatosis and intraoral angiomatosis on the buccal mucosa and lips, macrocheilia, occasional involvement of palate and tongue can also occur. Cutaneous hemangiomata are present ...