Abstract
Objective
Sturge-Weber Syndrome (SWS) is a neurological disorder usually diagnosed in childhood and characterized by facial port-wine stains, seizures, and intracranial vascular malformations. SWS is associated with a variety of neuropsychological presentations in children, but the adult cognitive profile of this disease is not well established. Specifically, little is known about how cerebral abnormalities found using Magnetic Resonance Imaging (MRI) correlate with cognitive difficulties in adulthood or if certain prognostic factors can predict cognitive outcome.
Methods
The present case involved a 53-year-old, left-handed, Caucasian female with 20 years of education with SWS, possible seizures, multiple concussions, posttraumatic stress disorder (PTSD; multiple reported traumas) and bipolar disorder, referred for a neuropsychological evaluation for progressive problems with memory, word-finding, and coordination over the last 14 years. A neuropsychological evaluation was administered and structural neuroimaging was reviewed.
Results
MRI studies revealed left hemispheric atrophy with enlargement of the left ventricle, cortical calcification in the left temporo-occipital region, cerebrovascular disease particularly in the frontal lobes, and vascular malformations. Despite severe neuroanatomical abnormalities associated with SWS, as well as comorbid psychiatric disorders, a neuropsychological evaluation revealed a relatively intact cognitive profile, with only scattered minor inefficiencies in attention/processing speed, executive functioning, and motor functioning.
Conclusions
This case provided an example of good prognosis of SWS in adulthood, despite significant brain abnormalities, potential seizure activity, multiple concussions, and psychiatric comorbidity. Further research is needed to conceptualize the neuropsychological impact of SWS in adulthood, specifically whether aspects of superior cognitive reserve (e.g., higher education) are associated with better prognosis.
Screening for Sturge-Weber syndrome: A state-of-the-art review
