Fernando Novoa S

Pesquisa etiológica en espasmos masivos

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.

Enfermedad de Tay Sachs

La enfermedad de Tay-Sachs es causada por un gen defectuoso en el cromosoma [2] 15. Cuando ambos padres portan el gen defectuoso para esta enfermedad, el hijo tiene un 25% de probabilidades de desarrollarla. El nino tiene que recibir dos copias del gen defectuoso, una de cada uno de los padres, para resultar enfermo. Si solo uno de los padres le transmite dicho gen defectuoso, el nino se denomina portador y no se enfermara, pero tendra el potencial de transmitirle la enfermedad a sus hijos.

Concentraciones Séricas de Fenobarbital y Metabolismo de Calcio y Fósforo en el Niño.

Some risk factors have been found between anticonvulsivant therapy and phosphocalcic metabolism alterations. Forty eight epileptic patients, aged 2 to 7 years, treated with phenobarbital, were studied, in comparison with twenty nine healthy controls. Patients with the higher plasma levels of phenobarbital presented the greatest biochemical alterations in the phosphocalcic metabolism. This was specially evident through the increase of alkaline phosphatase activity.

Síndrome de hiperamonemia congénita

El amonio, siendo toxico para el sistema nervioso, se mantiene en niveles hematicos muy estables gracias al equilibrio existente entre su absorcion exogena mas su produccion endogena, menos su utilization o eliminacion (Fig1)Gran parte del amonio, tanto el ingerido como el metabolizado por el organismo se fija como urea, es por esto que cualquier bloqueo metabolico del ciclo de la urea produce hiperamonemia y a modo de compensacion, las otras vias de metabolizacion adquieren mayor importancia (cerebro-ririon)