MR findings in tuberous sclerosis complex and correlation with seizure development and mental impairment.
OBJECTIVE
To correlate the findings on MR scans of the brain in patients with tuberous sclerosis complex with mental disability and the type and age at onset of the first seizure.


METHODS
Patients with tuberous sclerosis complex who had MR brain scans were identified. The diagnosis was confirmed, and the clinical information on each patient was updated. The number, site, and area of abnormal signals were recorded on each scan. The presence of sulcal islands, gyral cores, and migration lines or wedges was recorded.


RESULTS
Seventy-five patients were studied. Twenty-nine patients who had infantile spasms had more tubers than the 26 who presented with other types of generalized seizures. These patients had more tubers than the 15 patients with partial seizures. Significantly more tubers were found in patients with seizure onset before 1 year of age and mental disability. Gyral cores, sulcal islands, and radial migration lines or wedges were more common in patients with infantile spasms who had an early seizure onset and were mentally disabled. Patients who did not have seizures had no mental disability.


CONCLUSIONS
A greater number of tubers occurred in patients who had infantile spasms, had their first seizure before 1 year of age, or had a mental disability. These features reflect the degree of cerebral dysfunction caused by the tubers. Gyral cores, sulcal islands, and migration lines or wedges also reflect cerebral dysfunction. MR scans correlate well with the clinical features and are valuable in assessing patients with tuberous sclerosis complex.
Shepherd
C W
CW
Department of Neurology, Mayo Clinic, Rochester, MN 55905.
Houser
O W
OW
Gomez
M R
MR
D017668:Age of Onset; D002540:Cerebral Cortex / Q000473:pathology; D002675:Child, Preschool; D004805:Ependyma / Q000473:pathology; D004831:Epilepsies, Myoclonic / Q000503:physiopathology; D004828:Epilepsies, Partial / Q000503:physiopathology; D005260:Female; D005625:Frontal Lobe / Q000473:pathology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D009778:Occipital Lobe / Q000473:pathology; D010296:Parietal Lobe / Q000473:pathology; D012640:Seizures / Q000145:classification / Q000503:physiopathology*; D003294:Seizures, Febrile / Q000503:physiopathology; D013702:Temporal Lobe / Q000473:pathology; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology