Resumen

BARBOZA UBARNES, Miriam; BERMUDEZ BUELVAS, Isela Ester  y  DIAZ CANEDO, Daryevis. Tuberous Sclerosis Complex and Pervasive Developmental Disorder. Acta Neurol Colomb. [online]. 2014, vol.30, n.4, pp.331-336. ISSN 0120-8748.

The Tuberous Sclerosis Complex (TSC) is one of the more fundamented etiopathogenic, biochemical, structural and neurophysiological models available to understand the correlation between Pervasive Developmental Disorders (PDD), also known as autism spectrum disorders, epilepsy and genetics. Approximately between 25% and 50% of children with TSC satisfy clinical criteria for autism. It has been shown that the motor system is involved in synaptogenesis development and in neuronal circuits involved in the genesis of TSC epileptogenesis and clinical symptoms that characterize PDD. Clinical case: It’s reported the case of a higher infant diagnosed with TSC by clinical and imagelogics criteria, who debuted with frontal lobe epilepsy, focussed at 25 months age, with hard management; neuroimaging showed a right frontal tuberoma, furthermore, later presented autistic regression symptoms. Conclusion: This patient has risk factors for autistic regression due to a frontal right tuberoma, frontal epilepsy which was difficult to manage and an early start of the crisis. There is a close relation between autism pathogenesis and TSC’s epilepsy: BIDIRECTIONAL BINOMIAL.

Palabras clave : Tuberous Sclerosis Complex; autism; epilepsy; tuberoma; mTOR.

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