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Revista de Neuro-Psiquiatría
Print version ISSN 0034-8597
Abstract
VENCES, Miguel A.; BARRETO-ACEVEDO, Elliot and DELGADO-ACOSTA, Fiorella. Phakomatosis pigmentovascularis cesioflammea associated with focal myoclonic seizures: First case report in Peru. Rev Neuropsiquiatr [online]. 2020, vol.83, n.2, pp.104-109. ISSN 0034-8597. http://dx.doi.org/10.20453/rnp.v83i2.3752.
Phacomatosis pigmentovascularis is a rare congenital syndrome, characterized by the simultaneous presentation of a capillary vascular malformation and a cutaneous pigmentary lesion, without or with extracutaneous involvement. The case of an adolescent with epilepsy characterized by focal myoclonic seizures uncontrolled by an irregular pharmacological treatment, with skin lesions compatible with nevus flammeus and dermal, ocular and palatal melanosis since birth, is presented. This is the first report in the country of an infrequent neurocutaneous syndrome and its clinical association with epilepsy, highlighting besides the importance of a comprehensive evaluation of this entity.
Keywords : Focal epilepsy; phacomatosis cesioflammea; phacomatosis pigmentovascularis; myoclonic seizures.