Heritable syndromes with hypothalamic hamartoma and seizures: using rare syndromes to understand more common disorders

Abstract

Manifestations of non-syndromic hypothalamic hamartomas are different from those of the syndromic hamartomas, and the syndromic ones are rare. In spite of the rarity of the syndromic hamartomas, they can be a powerful biological tool to help us understand the pathophysiology of these heritable disorders. Several disorders that include hypothalamic hamartomas are reviewed here and the current understanding of the biology of the lesions is summarized.