Clinical genetic study in patients with tuberous sclerosis complex Estudio clínico genético en pacientes con complejo de esclerosis tuberosa

© 2017, Sociedad Chilena de Pediatria. All rights reserved. Introduction: Tuberous sclerosis complex (TSC) is a multisystem autosomal dominant disease caused by mutations in the tumor suppressor genes TSC1 or TSC 2. Objective: To characterize clinically and genetically patients diagnosed with TSC. Patients and method: Descriptive study of clinical records from a pediatric neuropsychiatry department of 42 patients diagnosed with TSC and genetic study of 21 of them. The exon 15 of the TSC1 gene and exons 33, 36 and 37 of the TSC2 gene were amplified by polymerase chain reaction and sequenced. The relationship between the mutations found with the severity and clinical evolution were analyzed. Results: In 61.9% of the patients the symptoms began before 6 months of age. The most frequent initial 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