Anomalie della sostanza bianca nella sclerosi Tuberosa: un criterio minore sottodiagnosticato?

Neuroimaging studies of tuberous sclerosis complex (TSC) have previously focused mainly on tubers or subependymal nodules. Subtle pathological changes as white matter abnormalities in the structure of the brain have not been focused. We utilized MRI techniques for reliable study of brain structure to reach an accurate computation of brain abnormalities in patients with TSC. We also found significant alteration of white matter as stripes and candle guttering excrescences of groups of atypical cells perpendicular to the ventricular wall 21 of 27 TSC affected patients. Neuropathological changes of white matter associated with TSC may be more extensive than prior suspected and it could be a underdiagnoised "minor" criteria

Gruppo di studio multidisciplinare per la TSC : Risultati preliminari = Multicentric study group for tuberous sclerosis complex : Preliminary results

Tuberous sclerosis complex (TSC) is a genetic disorder characterized by multiple hamartomas in several organs, particulary in the brain. Genetic linkage study led to discovery of two genes linked to TSC: TSC1 encoding a protein called hamartin, and TSC2 encoding tuberin. A cognitive impairment is often associated to TSC. The cognitive impairment is traditionally related to a number of cerebral tubers. We report 29 patients with TSC in which 14 (48.9%) showed a mild neurological phenotype with normal intellectual level. Surprisingly, 7 (50%) patients with mild phenotype showed a number of cerebral hamartomas major than 9. In this way we suggest that other aetiological hypoteses than the number of tubers should be considered to explain the intellectual impairment in TSC