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Clinical findings of the phakomatoses: Sturge–Weber syndrome

Mark Quigg, MD, MSc, Robert S. Rust, MD and James Q. Miller, MD

From the Department of Neurology, University of Virginia, Charlottesville.

Address correspondence and reprint requests to Dr. Mark Quigg, Department of Neurology, Box 800394, Health Sciences Center, University of Virginia, Charlottesville, VA 22908; e-mail: quigg{at}virginia.edu

The dermatologic hallmark of Sturge–Weber syndrome (SWS) is the nevus flammeus (port-wine stain, PWS), a angiomatous lesion usually distributed in the region innervated by the ophthalmic branch of the trigeminal nerve¹ caused by lack of normal regression of embryonic vascular plexus of the cephalic neural tube. The variable constellation of clinical findings of hemiparesis, mental retardation, and epilepsy is caused by the resulting leptomeningeal and cortical angiomatosis and calcification. SWS is a congenital and nonhereditary disorder. Physical findings of SWS are shown in figure 1 and neuroimaging in figure 2.

View larger version (59K): [in this window] [in a new window]   Figure 1. (A) Ophthalmic port-wine stain (PWS) in an infant. Glaucoma is a frequent complication. PWS that spares ophthalmic trigeminal distribution is usually not indicative of underlying Sturge–Weber syndrome.1 (B) Bilateral or more lower facial involvement occurs in 15%.1 As in this child, about half have an extracranial nevus that typically respects segmental anatomy.

View larger version (137K): [in this window] [in a new window]   Figure 2. (A) A-P skull film that demonstrates the gyral calcifications of the subarachnoid angiomas of Sturge–Weber syndrome, tortuous parallel "tram tracks" across most of the right hemisphere. (B) In another patient, uncontrasted axial CT and (C) gradient-echo axial MRI show gyral calcifications, atrophy, and gliosis of the underlying cortex due to leptomeningeal involvement.

Acknowledgment

The authors thank C. Douglas Phillips of the Division of Neuroradiology for his contributions of MRI images.

Footnotes

Deceased.

Disclosure: The authors report no conflicts of interest.

Reference

1. Tallman B, Tan OT, Morelli JG, et al. Location of port-wine stains and the likelihood of ophthalmic and/or central nervous system complications. Pediatrics 1991;87:323–327.[Abstract/Free Full Text]

This Article Figures Only Full Text (PDF) Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Quigg, M. Articles by Miller, J. Q. Search for Related Content PubMed PubMed Citation Articles by Quigg, M. Articles by Miller, J. Q. Related Collections All Imaging MRI All Epilepsy/Seizures Other neurocutaneous disorders