Resumo

ORTIZ, Blair; JARAMILLO, Yesyka  e  ROJAS, Christian. X-linked epileptic syndrome by protocadherin 19 mutation associated with leukoencephalopathy and posterior reversible tractopathy. Biomédica [online]. 2018, vol.38, n.4, pp.463-466. ISSN 0120-4157.  https://doi.org/10.7705/biomedica.v38i4.3900.

Epilepsy and mental retardation produced by mutations in gene PCDH19 (protocadherin 19) is an X-linked syndrome restricted to females. It starts with global and speech developmental delay and epilepsy; intellectual disability may continue in adults. At least in 20% of cases, there are no seizures or intellectual retardation. We report the case of a girl with epilepsy, developmental delay, and autistic conversion associated with posterior reversible leukoencephalopathy and tractopathy produced by PCDH19 mutation (c.142G>T/ p.Glu48X).

Palavras-chave : Epilepsy; seizures, febrile; intellectual disability; leukoencephalopathies; brain diseases.

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