title: [Clinical and genetic study patients with tuberous sclerosis complex].
abstract: 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.
  
  
  METHODS
  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 phenotype.
authors.affiliation: Servicio de Neuropsiquiatría Infantojuvenil, Hospital Clínico San Borja-Arriarán, Santiago, Chile.
authors.forename: Carla
authors.initials: C
authors.lastname: Rubilar
authors.affiliation: Servicio de Neuropsiquiatría Infantojuvenil, Hospital Clínico San Borja-Arriarán, Santiago, Chile.
authors.forename: Francisca
authors.initials: F
authors.lastname: López
authors.affiliation: Servicio de Neuropsiquiatría Infantojuvenil, Hospital Clínico San Borja-Arriarán, Santiago, Chile.
authors.forename: Mónica
authors.initials: M
authors.lastname: Troncoso
authors.affiliation: Servicio de Neuropsiquiatría Infantojuvenil, Hospital Clínico San Borja-Arriarán, Santiago, Chile.
authors.forename: Andrés
authors.initials: A
authors.lastname: Barrios
authors.affiliation: Programa de Genética Humana, Instituto de Ciencias Biomédicas, Facultad de Medicina, Universidad de Chile, Santiago, Chile.
authors.forename: Luisa
authors.initials: L
authors.lastname: Herrera
mesh_terms: D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D006338:Heart Neoplasms / Q000209:etiology / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D012207:Rhabdomyoma / Q000209:etiology / Q000235:genetics; D012640:Seizures / Q000209:etiology* / Q000235:genetics; D012720:Severity of Illness Index; D014402:Tuberous Sclerosis / Q000235:genetics* / Q000503:physiopathology; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins