title: Manifestations of Tuberous Sclerosis Complex: The Experience of a Provincial Clinic.
abstract: BACKGROUND
  Tuberous sclerosis complex (TSC) is a neurocutaneous disorder with a wide spectrum of manifestations. Recent consensus recommendations stress the importance of multidisciplinary management of children with TSC. The objective of this study was to examine the manifestations of TSC at a large referral centre to determine the care needs of this population.
  
  
  METHODS
  A retrospective, systematic chart review was performed of children with TSC managed at British Columbia Children's Hospital. Patients were identified through epilepsy and clinical neurophysiology databases.
  
  
  RESULTS
  The study population comprised 81 patients, born between 1987 and 2014, who were a median of 10 years (range, 0.2-23.2) at most recent follow-up. Epilepsy occurred in 91% of patients, including 32% with a history of infantile spasms. Nineteen patients underwent epilepsy surgery, nine (47%) of whom were seizure-free at most recent follow-up. Overall, 61% of epilepsy patients had been seizure-free for at least 1 year at the time of last follow-up. Neuropsychiatric disorders were diagnosed in 49% of children, with autism (25%), attention deficit hyperactivity order (19%) and anxiety (16%) being the most common. Cardiac rhabdomyomata occurred in 35% of children and renal angiomyolipomas were seen in 43%. A total of 91% had skin manifestations.
  
  
  CONCLUSIONS
  This study outlines the multisystem manifestations of TSC, observed through a large pediatric referral center. Epilepsy and neuropsychiatric disorders are the major source of morbidity in this age group and provide many challenges to the treating clinician. Because a subset of the study population is still quite young, the prevalence of neuropsychiatric disorders is likely underestimated.
authors.affiliation: 1Division of Neurology,Department of Pediatrics,British Columbia Children's Hospital and University of British Columbia.
authors.forename: Colin
authors.initials: C
authors.lastname: Wilbur
authors.affiliation: 1Division of Neurology,Department of Pediatrics,British Columbia Children's Hospital and University of British Columbia.
authors.forename: Chinnuwat
authors.initials: C
authors.lastname: Sanguansermsri
authors.affiliation: 1Division of Neurology,Department of Pediatrics,British Columbia Children's Hospital and University of British Columbia.
authors.forename: Hedi
authors.initials: H
authors.lastname: Chable
authors.affiliation: 1Division of Neurology,Department of Pediatrics,British Columbia Children's Hospital and University of British Columbia.
authors.forename: Mihaela
authors.initials: M
authors.lastname: Anghelina
authors.affiliation: 1Division of Neurology,Department of Pediatrics,British Columbia Children's Hospital and University of British Columbia.
authors.forename: Sharon
authors.initials: S
authors.lastname: Peinhof
authors.affiliation: 1Division of Neurology,Department of Pediatrics,British Columbia Children's Hospital and University of British Columbia.
authors.forename: Kelly
authors.initials: K
authors.lastname: Anderson
authors.affiliation: 2Division of Neurosurgery,Department of Surgery,British Columbia Children's Hospital and University of British Columbia.
authors.forename: Paul
authors.initials: P
authors.lastname: Steinbok
authors.affiliation: 2Division of Neurosurgery,Department of Surgery,British Columbia Children's Hospital and University of British Columbia.
authors.forename: Ash
authors.initials: A
authors.lastname: Singhal
authors.affiliation: 1Division of Neurology,Department of Pediatrics,British Columbia Children's Hospital and University of British Columbia.
authors.forename: Anita
authors.initials: A
authors.lastname: Datta
authors.affiliation: 1Division of Neurology,Department of Pediatrics,British Columbia Children's Hospital and University of British Columbia.
authors.forename: Mary B
authors.initials: MB
authors.lastname: Connolly
mesh_terms: D000293:Adolescent; D017677:Age Distribution; D018207:Angiomyolipoma / Q000000981:diagnostic imaging / Q000209:etiology; D002490:Central Nervous System / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004827:Epilepsy / Q000000981:diagnostic imaging / Q000209:etiology* / Q000601:surgery; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007668:Kidney / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D001523:Mental Disorders / Q000000981:diagnostic imaging / Q000209:etiology*; D009206:Myocardium / Q000473:pathology; D012189:Retrospective Studies; D012207:Rhabdomyoma / Q000000981:diagnostic imaging / Q000209:etiology; D012871:Skin Diseases / Q000209:etiology; D013036:Spasms, Infantile / Q000000981:diagnostic imaging / Q000209:etiology*; D014402:Tuberous Sclerosis / Q000150:complications* / Q000000981:diagnostic imaging
keywords: Epilepsy - pediatric; Epilepsy surgery; Neurology - pediatric; Pediatric neurology