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Diagnóstico de fenilquetonuria en Chile

The clinical and biochemical characteristics of 44 PKU children, diagnosed at an average age of 3 years 11months is presented. 90% of these children consulted because of delayed psychomotor development or mentalretardation: 100% of them showed hypopigmented skin, but only 32% had bright colored eyes, 86% had a peculiarmust odor. The neurological signs and symptoms were predominantly hyperactivity, irritability, hypotonia andhyperreflexia. Fenic chloride and 2-4 dinitrophenylhydrazine tests were positive in all patients. Paper chromato-graphy of amino acids demonstrated levels of phenylalanine over 20 mg%. The importance of making an earlydiagnosis and treatment in order to prevent mental retardation is emphasized. The need to develop newborn screen-ing for PKU in our country is raised.(Key words: phenylketomiria, PKU.)

Convulsiones neonatales: diagnóstico y manejo

El recien nacido convulsiona en un escenario multifactorial (parto labioroso, hipoxia, acidosis/hipercapnia, hipoglicemia, hipocalcemia, etc ). Las convulsiones neonatales constituyen en si un marcador de morbilidad neurologica, y la mayor o menor dificultad en controlarlas no solo dependera de la etiologia, ademas llevara implicito el pronostico del desarrollo del nino. La mayoria de las veces se diagnostican y manejan a traves de la mera observacion clinica, pero hoy es muy conocida la importancia del aporte de la electroencefalografia con tecnicas poligraficas del monitoreo video-EEG, lo cual es esencial para identificarlas mejor y reconocer las crisis electrograficas, que pueden tener solo cambios autonomicos a veces imperceptibles y que sin duda son una pieza fundamental en el pronostico. Se revisan las bases neurobiologicas de las crisis y su clasificacion para el manejo clinico. Se analizan las etiologias mas relevantes, y se hace especial mencion a los errores innatos del metabolismo, entregando pautas de manejo terapeutico

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.