title: [Tuberous sclerosis: clinical characteristics and their relationship to genotype/phenotype].
abstract: BACKGROUND
  Tuberous sclerosis (TS) is an inherited disorder with multisystemic involvement and a high phenotypic variability. There are two genes that cause this condition: TSC1 and TSC2.
  
  
  OBJECTIVE
  Our goal was to clinically characterize patients with TS followed up in the Pediatric Neurology Clinic of a tertiary hospital during the last 10 years, and correlate the genotype with the severity of neurological manifestations and imaging studies.
  
  
  METHODS
  Retrospective analysis of patients with TS, including review of medical records and available MRI imaging.
  
  
  RESULTS
  We studied 35 cases with a median age at diagnosis of ten months. Seizures were the first manifestation in 91.4% of cases, with a predominance of epileptic spasms. Over 50% had cognitive impairment and 49% behavioral disorders. A genetic study was performed on 24 children, and TSC2 mutations identified in 58.3% of them. Of the 11 cases of refractory epilepsy, six had the TSC2 gene mutation. In the group of eight patients with moderate/severe cognitive deficits, five had TSC2 mutations. We reviewed 26 MRI scans, in which it was observed that 76.9% had diffuse involvement of cerebral lobes, which reflects a greater burden of injury. Of the patients who had an MRI scan performed and had TSC2 mutations, all had a high tuber load, and5 of them had refractory epilepsy.
  
  
  CONCLUSIONS
  In our sample we observe a high percentage of mutations in the TSC2 gene. This mutation carries a worse neurological prognosis, with drug-resistant epilepsy and a more severe cognitive impairment.
authors: Centro Materno-Infantil do Norte, Porto, Portugal.
authors: T
authors: T
authors: Monteiro
authors: Centro Materno-Infantil do Norte, Porto, Portugal.
authors: C
authors: C
authors: Garrido
authors: Centro Materno-Infantil do Norte, Porto, Portugal.
authors: S
authors: S
authors: Pina
authors: Centro Materno-Infantil do Norte, Porto, Portugal.
authors: R
authors: R
authors: Chorão
authors: Centro Materno-Infantil do Norte, Porto, Portugal.
authors: I
authors: I
authors: Carrilho
authors: Centro Materno-Infantil do Norte, Porto, Portugal.
authors: S
authors: S
authors: Figueiroa
authors: Centro Materno-Infantil do Norte, Porto, Portugal.
authors: M
authors: M
authors: Santos
authors: Centro Materno-Infantil do Norte, Porto, Portugal. Electronic address: teresatemudo@hotmail.com.
authors: T
authors: T
authors: Temudo
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D012189:Retrospective Studies; D012720:Severity of Illness Index; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult
keywords: Alteraciones del comportamiento; Brain magnetic resonance imaging; Changes in behavior; Cognitive deficit; Déficit cognitivo; Epilepsia; Epilepsy; Esclerosis tuberosa; Fenotipo; Genotipo; Genotype; Phenotype; Resonancia magnética cerebral; Tuberous sclerosis