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Manifestations of Tuberous Sclerosis Complex: The Experience of a Provincial Clinic

Colin Wilbur1, Chinnuwat Sanguansermsri1, Hedi Chable1

  • 11Division of Neurology,Department of Pediatrics,British Columbia Children's Hospital and University of British Columbia.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|December 23, 2016
PubMed

Insights

Tuberous sclerosis complex (TSC) affects many systems, with epilepsy and neuropsychiatric disorders causing the most significant issues in children. Early identification and multidisciplinary care are crucial for managing TSC manifestations.

Area of Science:

  • Pediatric Neurology
  • Genetics
  • Dermatology

Background:

  • Tuberous sclerosis complex (TSC) is a genetic disorder causing tumors in vital organs.
  • Multidisciplinary management is recommended for children with TSC.
  • Understanding TSC manifestations is key to determining care needs.

Purpose of the Study:

  • To examine the clinical manifestations of TSC in a pediatric population.
  • To identify the primary sources of morbidity in children with TSC.
  • To inform the multidisciplinary care strategies for TSC patients.

Main Methods:

  • Retrospective chart review of pediatric patients with TSC.
  • Data collected from a large Canadian pediatric referral center.
  • Patients identified via epilepsy and neurophysiology databases.

Main Results:

  • 81 pediatric patients with TSC were analyzed.
  • Epilepsy affected 91% of patients; 32% had infantile spasms.
  • Neuropsychiatric disorders (autism, ADHD, anxiety) affected 49%; skin manifestations occurred in 91%.

Conclusions:

  • Epilepsy and neuropsychiatric disorders are major causes of morbidity in pediatric TSC.
  • Multisystem involvement (cardiac, renal, skin) is common.
  • The prevalence of neuropsychiatric disorders may be underestimated in younger patients.
Abstract

Keywords:
Epilepsy - pediatricEpilepsy surgeryNeurology - pediatricPediatric neurology

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