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At a glance

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.

Synonyms

Fourth Phacomatosis Syndrome; Dimitri Disease; Jahnke Syndrome; Kalischer Syndrome; Lawford Syndrome; Müller Syndrome; Parkes Weber Syndrome; Parkes-Weber- 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.

History

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.

Incidence

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.

Genetic inheritance

Somatic mosaicism. Almost all incidences are sporadic cases.

Pathophysiology

Uncertain. Mutation in the GNAQ gene on chromosome 9q21 has been described. This gene encodes the guanine nucleotide-binding proteins which are a family of heterotrimeric proteins that couple cell surface, 7-transmembrane domain receptors to intracellular signaling pathways. An acquired vascular abnormality early in development is also postulated. 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.

Diagnosis

Clinical; characterized by nevus flammeus of the face and angioma of the meninges. The most common Type 1 includes facial and leptomeningeal angiomas as well as the possibility of glaucoma or choroidal lesions. Type 2 involvement includes a facial angioma (port-wine stain) with possible glaucoma but no leptomeningeal involvement. The facial hemangioma is absent in Type 3 which has leptomeningeal angioma involvement only. 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 ...

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