SciELO - Scientific Electronic Library Online

 
vol.30 número4Hereditary neuropathy with liability to pressure palsy. Clinical, neurophysiological and genetic study of 3 sporadic casesWork related injury due to epileptic crisis and craneoencephalic trauma resulting in death A revision done from jurisprudence and legislation in Spain índice de autoresíndice de assuntospesquisa de artigos
Home Pagelista alfabética de periódicos  

Serviços Personalizados

Journal

Artigo

Indicadores

Links relacionados

  • Em processo de indexaçãoCitado por Google
  • Não possue artigos similaresSimilares em SciELO
  • Em processo de indexaçãoSimilares em Google

Compartilhar


Acta Neurológica Colombiana

versão impressa ISSN 0120-8748

Resumo

BARBOZA UBARNES, Miriam; BERMUDEZ BUELVAS, Isela Ester  e  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.

Palavras-chave : Tuberous Sclerosis Complex; autism; epilepsy; tuberoma; mTOR.

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )