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Chapter 45 - Tuberous Sclerosis Complex

from Genetic Syndromes and Phakomatoses

Published online by Cambridge University Press:  07 August 2021

Mirna Lechpammer ,
Marc Del Bigio  and
Rebecca Folkerth
By
Mirna Lechpammer
Mirna Lechpammer
Affiliation:
New York University School of Medicine
Marc Del Bigio
Affiliation:
University of Manitoba, Canada
Rebecca Folkerth
Affiliation:
New York University School of Medicine
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Summary

Tuberous sclerosis complex (TSC) is a rare, neurocutaneous genetic disorder that manifests with multiple hamartomas in various organs and tissues, including the central nervous system (CNS), heart, lungs, and kidneys. The disease was described for the first time in 1862 by a German pathologist Friedrich Daniel von Recklinghausen [1]; however, Desire-Magloire Bourneville characterized the disease, thus earning the eponym Bourneville’s disease.

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Chapter
Information
Perinatal Neuropathology , pp. 273 - 277
Publisher: Cambridge University Press
Print publication year: 2021

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References

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