Introduction: Tuberous sclerosis complex (TSC) is a multisystem autosomal dominant disease caused by mutations in the tumor suppressor genes TSC1 or TSC2.Objective: To characterize clinically and genetically patients diagnosed with TSC.Patients and Method: Descriptive study of clinical records of 42 patients from a pediatric neuropsychiatry department diagnosed with TSC and genetic study in 21 of them. The exon 15 of TSC1 gene and exons 33, 36 and 37 of TSC2 gene were amplified by polymerase chain reaction and sequenced. The relationship between the mutations found with the severity and clinical course were analyzed.Results: In 61.9% of the patients the symptoms began before 6 months of age. The initial most frequent manifestations of TSC were new onset of seizures (73.8%) and the detection of cardiac rhabdomyomas (16.6%). During the evolution of the disease all patients had neurological involvement; 92.9% had epilepsy. All patients presented hypomelanotic spots, 47.6% facial angiofibromas, 23.8% Shagreen patch, 47.6 heart rhabdomyomas and 35.7% retinal hamartomas. In the genetic study of 21 patients two heterozygous pathogenic mutations in TSC1 and one in TSC2 genes were identified. The latter had a more severe clinical phenotype.Conclusions: Neurological and dermatological manifestations were the most frequent ones in patients with TSC. Two pathogenic mutations in TSC1 and one in TSC2 genes were identified. The patient with TSC2 mutation manifested a more severe clinical phenotypeIntroducción: El complejo de esclerosis tuberosa (CET) es una enfermedad autosomica dominante multisistemica producida por mutaciones en los genes supresores de tumores TSC1 o TSC2.Objetivo: Caracterizar clinica y geneticamente pacientes pediatricos con diagnostico de CET.Pacientes y Método: Estudio descriptivo de registros clinicos de 42 pacientes pediatricos controlados en un servicio de neuropsiquiatria infantil con diagnostico de CET y estudio genetico en 21 de ellos. Se amplifico por reaccion en cadena de la polimerasa y secuencio el exon 15 del gen TSC1 y los exones 33, 36 y 37 del gen TSC2. Se analizo la relacion entre las mutaciones encontradas con la severidad y evolución clinica.Resultados: En el 61,9% de los pacientes las manifestaciones comenzaron antes de los 6 meses de edad. Las manifestaciones iniciales de CET mas frecuentes fueron las crisis convulsivas (73,8%) y el hallazgo de rabdomiomas cardiacos (16,6%). Durante su evolucion, todos los pacientes presentaron compromiso neurologico; el 92,9% presento epilepsia. Todos los pacientes presentaron maculas hipomelanoticas, 47,6% pangiofibromas faciales, 23,8% parches de Shagreen, 47,6% rabdomiomas cardiacos y 35,7% hamartomas retinianos. El estudio genetico realizado a 21 pacientes identifico 2 mutaciones heterocigotas patogenicas en TSC1 y una en TSC2. Este ultimo paciente presentaba un fenotipo clinico mas severo.Conclusiones: Las manifestaciones neurologicas y dermatologicas fueron las mas frecuentes en los pacientes con CET. Se identificaron 2 mutaciones patogenicas en el gen TSC1 y una en el gen TSC2. La mutacion en TSC2 se manifesto en un fenotipo clinico mas severo.