Problematiche e contributi nella presa in carico dei pazienti affetti da sclerosi tuberosa

Translated title of the contribution: Problems and suggestions in handling patients with tuberous sclerosis

E. Veneselli, R. Di Comite

Research output: Contribution to journalArticlepeer-review

Abstract

Tuberous Sclerosis Complex (TCS) is a multisystem autosomal dominant disorder, with high spontaneous mutation rate; it is charactherized by very different clinical phenotypes and widespread development of hamartias, or non-growing lesions, and hamartomas, wich can grow as benign tumors and rarely progress to malignances. We reported the TSC Consensus Conference Diagnostic Criteria, divided into major and minor features (1998), and Recommendations for diagnostic evaluation (1999). Since the age-dipendent appearance and the frequency of symptoms, their usefulness is limited in pediatric patients. Then we examined the data about the incidence of clinical features from infancy into childhood, with the aim of improving the diagnostic evaluation and the follow up of pediatric patients. Therefore, also on the basis of the personal experience, we stressed the opportunity of a flexible clinical approach and the existence of some features stimulating other clinical and basic research studies.

Translated title of the contributionProblems and suggestions in handling patients with tuberous sclerosis
Original languageItalian
Pages (from-to)539-542
Number of pages4
JournalRivista di Neuroradiologia
Volume16
Issue number3
Publication statusPublished - Jun 2003

ASJC Scopus subject areas

  • Clinical Neurology
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology

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