title: [Etiologic research in massive spasms].
abstract: A systematic clinical protocol was applied in 16 infants that suffered from infantile spasms (IS) in order to identify etiologic factors. A positive family history was present in 2/16 patients and relevant perinatal or postnatal pathology in 5/16. Psychomotor retardation and other seizures anteceded IS in 10/16 and 8/16 infants respectively. Physical and neurologic examination revealed microcephalia (4/16), dysmorphic features (2/16), hypopigmented skin lesions (1/16) and pyramidal syndrome (8/16). Neuroimaging technics yielded positive findings in 9/16 patients, diffuse or localized atrophy (7/16), porencephalic cysts (3/16), periventricular calcifications (1/16), callosal agenesis (1/16). Laboratory examination allowed diagnosis of two metabolic diseases: congenital hyperlactatemia an maple syrup urine disease. Two patients were classified as cryptogenetic and fourteen as symptomatic. Within the latter an etiologic factor was identified in 12/14. This study underlines the value of etiologic search in IS, because it may contribute substantially to specific treatment and genetic counselling.
authors.affiliation: Unidad de Neuropsicología, Universidad de Chile.
authors.forename: I
authors.initials: I
authors.lastname: López
authors.forename: M
authors.initials: M
authors.lastname: Troncoso
authors.forename: L
authors.initials: L
authors.lastname: Troncoso
authors.forename: M
authors.initials: M
authors.lastname: Colombo
authors.forename: F
authors.initials: F
authors.lastname: Pinto
authors.forename: O
authors.initials: O
authors.lastname: Japaz
authors.forename: F
authors.initials: F
authors.lastname: Novoa
mesh_terms: D002985:Clinical Protocols; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D013036:Spasms, Infantile / Q000175:diagnosis / Q000209:etiology*
vernacular_title: Pesquisa etiológica en espasmos masivos.