[Etiologic research in massive spasms].

I López; M Troncoso; L Troncoso; M Colombo; F Pinto; O Japaz; F Novoa

PubMed · 1844940

[Etiologic research in massive spasms].

I López·M Troncoso·L Troncoso·M Colombo·F Pinto·O Japaz·F Novoa

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.

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Clinical Protocols Female Humans Infant Male Spasms, Infantile English Abstract Journal Article

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I López, M Troncoso, L Troncoso, M Colombo, F Pinto, O Japaz, F Novoa. [Etiologic research in massive spasms].. https://pubmed.ncbi.nlm.nih.gov/1844940/

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