Physiatric findings in individuals with Sturge-Weber syndrome

Abstract

Sturge-Weber syndrome is a rare neurocutaneous disorder that often results in functional impairment caused by motor (typically hemiparesis) and cognitive deficits. A retrospective chart review of physiatric evaluation of 30 individuals, aged 4 mos to 55 yrs (median age, 2.4 yrs), with Sturge-Weber syndrome with brain involvement was conducted for the purpose of summarizing physiatric findings and recommendations in this cohort. Presence or absence of motor, cognitive, and behavioral concerns and need for orthoses, spasticity management, and therapy services were noted. Hemiparesis was common, but the need for intervention for spasticity was rare. Cognitive and behavioral concerns were noted frequently, meriting additional evaluation. Case vignettes are presented to highlight (1) a child with repeated functional setbacks in association with increased seizure frequency who, with seizure control, demonstrated return to functional baseline and subsequent further skill development and (2) a child with Sturge-Weber syndrome who made functional gains with constraint-induced movement therapy.

FIGURE 1

The MRI findings from patient with SWS. A, Contrast-enhanced T1-weighted axial MRI image from patient A obtained at age 5 mos demonstrating right-sided leptomeningeal angioma, consistent with SWS. All lobes of the right hemisphere are noted to be involved. B, Follow-up contrast-enhanced T1-weighted MRI at age 3 additionally reveals atrophy of the entire right hemisphere; a prominent choroid glomus within the right lateral ventricle is also demonstrated on this axial slice. SWS, Sturge-Weber Syndrome; MRI, magnetic resonance imaging.