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
Unilateral nevus flammeus in an infant with Sturge-Weber syndrome.
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 ...