Neuroimaging in tuberous sclerosis: A clinicoradiological evaluation in pediatric patients

Abstract

CT, MRI and neurological features of 27 children with tuberous sclerosis were prospectively compared. Imaging studies were positive in 92.5% of cases. CT was more useful in detecting subependymal nodules, while MRI showed the number and location of cerebral cortical and subcortical lesions more accurately. Cortical lesions in the cerebellar hemispheres were present in 26% of patients. Gadolinium-DTPA used in 10 patients showed slight enhancement of the subependymal lesions in 80% of cases, probably representing active lesions with alteration of the blood-brain barrier. None of the cortical and subcortical lesions enhanced. Giant-cell astrocytomas were detected in 5 patients, the postcontrast CT and MRI studies improving their assessment. Unlike subependymal nodules, all tumors showed marked enhancement regardless of their size. Seizures were present in 96% of patients, mostly beginning before 1 year of age. There was no clear relationship between the radiological features and the neurological evolution of these patients. Therefore, it is not possible to establish a clinical prognosis based on the radiological findings. MRI is the procedure of choice in the diagnosis of tuberous sclerosis. When pre and postcontrast MRI are negative, CT is used to exclude small calcified subependymal nodules. MRI follow-up is required only when tumoral development is clinically suspected.

Metaplastic bone in a cortical tuber of a young patient with tuberous sclerosis complex

“…7 In the present case, the significant improvement in seizure frequency after the surgery suggests that the lesion was involved in the epileptogenic zone. However, the relationship of the calcification to the epileptogenicity is unclear, particularly since the patient's seizure onset occurred years before the tuber appeared calcified.…”

MRI Characterization and Longitudinal Study of Focal Cerebellar Lesions in a Young Tuberous Sclerosis Cohort

“…7,15 A correlation between autism and posterior fossa tubers was found in 1 study, while others correlated autistic symptoms (social isolation, stereotypical behavior, and communication and developmental problems) with right-sided tubers. 4,16,17 However, other studies correlated autism in TSC with temporal lobe tubers 18,19 and left temporal lobe epileptiform foci.…”

“…5,7,15 Additionally, is this atrophy reflecting a primary aberrant neuronal developmental process or rather the sequela of seizures or other associated destructive processes? The similarities in the pathologic cerebellar tuber specimens to the supratentorial tuber specimens may be indicative of a similar primary abnormal developmental process.…”

Surgical timing of the subependymal giant cell astrocytoma (sega) with the patients of tuberous sclerosis complex. .

“…In children, 110 cases of subependymal giant cell astrocytomas have been reported in the literature. They were usually discovered after 10 years, at a mean age of 13 years (5,9,16,17,20,22 (14,26,27). After the renal USG, performed to the patients, angiomyolipoma was detected in the 14 of the patients (37,8%).…”

“…The classic TSC central nervous system findings of cortical tubers, subependymal nodules (SENs), subependymal giantcell astrocytomas (SEGAs), and white-matter abnormalities are now easily identified by modern neuroimaging techniques (3,4,17,19,20). SEGAs are benign tumors that occur in approximately 10% of patients with TSC.…”