The Bone Does Not Predict the Brain in Sturge-Weber Syndrome.

Area of Science:

• Neuroradiology
• Pediatric Radiology
• Medical Imaging

Background:

• Sturge-Weber syndrome (SWS) is a rare neurological disorder.
• Intracranial manifestations of SWS can include pial angiomas, cerebral atrophy, and white matter changes.
• Skull marrow signal alteration has been hypothesized as an early indicator of SWS.

Purpose of the Study:

• To investigate the association between intraosseous changes (skull marrow signal alteration) and the clinical features of Sturge-Weber syndrome.
• To determine if intraosseous changes are predictive of intracranial manifestations in SWS.
• To differentiate the association of bone marrow changes with port-wine stains versus cerebral pial angiomas.

Main Methods:

• Retrospective review of 139 pediatric patients with port-wine stains and/or SWS between 1998 and 2017.
• Evaluation of MR imaging for skull marrow signal abnormality, pial angioma, and other SWS features by two pediatric neuroradiologists.
• Statistical analysis (chi-squared test) to assess associations between port-wine stain, bone marrow changes, and pial angioma.

Main Results:

• Of 139 cases, 40 had port-wine stain only and 99 had SWS with pial angioma.
• In the port-wine stain-only group, 78% showed ipsilateral bony changes.
• In the SWS group, 91% had bony changes ipsilateral to the port-wine stain, while only 77% had bony changes ipsilateral to a cerebral pial angioma (P = .27).

Conclusions:

• Intraosseous marrow changes are strongly associated with the presence of a facial port-wine stain.
• No significant association was found between pial angioma and bone marrow changes.
• Skull marrow signal alterations are likely related to the overlying port-wine stain and not predictive of SWS brain involvement.