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The diverse manifestations of tuberous sclerosis complex: the experience of a provincial TSC clinic

Published online by Cambridge University Press:  03 June 2015

C Wilbur
Affiliation:
(Vancouver)
C Sanguansermsri
Affiliation:
(Vancouver)
H Chable
Affiliation:
(Vancouver)
A Mihaela
Affiliation:
(Vancouver)
MB Connolly
Affiliation:
(Vancouver)
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Abstract

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Background: Recent consensus recommendations for Tuberous Sclerosis Complex (TSC) stress the importance of multidisciplinary follow-up for these patients. The objective of our study was to review the manifestations of TSC seen in our hospital to determine the care needs of this population. Methods: This was a systematic, retrospective chart review of children with TSC treated at our institution. Patients were identified through epilepsy and clinical neurophysiology databases. Results: The study population comprised 81 patients, born between 1987-2014, who were a median 10 (Range 0.2-23.2) years of age at last follow-up. 88% of patients had epilepsy, including 30% with a history of infantile spasms. Developmental delay was reported in 65%, while 40% had intellectual disability. Psychiatric co-morbidities occurred in 49%. The most common psychiatric diagnoses were autism (25%), ADHD (19%), and anxiety (16%). Cardiac rhabdomyomas occurred in 35% of patients and renal angiomyolipomas in 42%, while only 4% had polycystic kidneys. Subependymal giant cell astrocytomas were observed in 14% of patients. 86% had skin manifestations. Conclusions: This study reaffirms the multi-system manifestations of TSC and the need to provide comprehensive, multidisciplinary care. As many children are still very young, the prevalence of autism and intellectual disability is likely underestimated.

Type
CACN Platform Presentations
Copyright
Copyright © The Canadian Journal of Neurological Sciences Inc. 2015