Early diagnosis of cerebral involvement in Sturge-Weber syndrome using high-resolution BOLD MR venography

Pediatr Radiol. 2005 Jan;35(1):85-90. doi: 10.1007/s00247-004-1333-2. Epub 2004 Oct 6.

Abstract

Sturge-Weber syndrome (SWS) is a congenital disorder characterized by a vascular birthmark and neurological abnormalities. Typical imaging findings using MRI or CT are superficial cerebral calcification, atrophy and leptomeningeal enhancement. We present a neonate diagnosed with SWS because of a port-wine stain. In the absence of neurological symptoms the first MRI was performed when he was 4 months old, and follow-up MRI studies were performed after his first seizure at the age of 12 months. MRI was performed using standard sequences before and after administration of IV gadolinium. A high-resolution T2*-weighted, rf-spoiled 3D gradient-echo sequence with first-order flow compensation in all three directions was used for additional venographic imaging [blood-oxygen-level-dependent (BOLD) venography]. The initial conventional MRI sequences did not demonstrate any abnormality, but BOLD venography identified leptomeningeal internal veins. Follow-up MRI after the first onset of seizures demonstrated strong leptomeningeal enhancement, while BOLD venography revealed pathological medullary and subependymal veins as well as deep venous structures. At this time there were the first signs of atrophy and CT showed marginal calcifications. This report demonstrates that high-resolution BOLD MR venography allows early diagnosis of venous anomalies in SWS, making early therapeutic intervention possible.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain Diseases / diagnosis*
  • Brain Diseases / etiology
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Phlebography
  • Sturge-Weber Syndrome / complications*