Which histologic findings are characteristic of Sturge-Weber syndrome (SWS)?

Updated: Dec 26, 2018
  • Author: Masanori Takeoka, MD; Chief Editor: George I Jallo, MD  more...
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The leptomeninges in SWS appear thickened and discolored by the LA, which fills the subarachnoid space, and abnormal venous structures are seen. Biopsies typically are not performed in SWS. However, pathologic specimens, such as those examined by Norman and Schoene, show calcium deposits in the cerebral vessel walls, in perivascular tissue, and, in rare cases, within neurons, as well as neuronal loss and gliosis. [17] These pathological abnormalities may occur at a distance from the actual vascular lesion.

Di Trapeni et al reported a mucopolysaccharide substance with calcium in the connective tissue of the vessels early on in SWS. This substance was found to increase in size and migrate outside the vessels. The investigators postulated that anoxia, necrosis, and variations in calcium concentrations act only as secondary factors. [89]

Hoffman et al have showed that aluminum was present within the calcium concretions, [90] and Simonati et al reported 4-layered microgyria below the angiomatosis. [91]

In skin biopsies of the PWS in patients with SWS, dilated, thin-walled vessels are seen in the superficial vascular plexus, but with no increase in the number of blood vessels.

In trabeculectomy specimens in patients with SWS, abnormal collagen depositions and abundant vessels in the intratrabecular spaces have been seen with morphologic abnormalities in the Schlemm canal. Hemangiomas in the trabecular meshwork are characteristic of SWS.

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