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The syndrome gelastic seizures–hypothalamic hamartoma: Severe, potentially reversible encephalopathy
Author(s) -
Striano Salvatore,
Striano Pasquale,
Coppola Antonietta,
Romanelli Pantaleo
Publication year - 2009
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1167.2009.02125.x
Subject(s) - gelastic seizure , hypothalamic hamartoma , epileptogenesis , epilepsy , medicine , radiosurgery , precocious puberty , neuroscience , hamartoma , polymicrogyria , pediatrics , psychology , anesthesia , surgery , pathology , radiation therapy , hormone
Summary Hypothalamic hamartoma (HH) is the pathologic hallmark of a spectrum of epileptic conditions, ranging from a mild form of epilepsy, whose seizures are an urge to laugh without cognitive defects, to the fully developed syndrome of early onset gelastic seizures (GS) associated with precocious puberty and the evolution to a catastrophic epilepsy syndrome. However, a refractory focal or generalized epilepsy develops during the clinical course in nearly all cases. Neurophysiologic and neuroimaging studies have assessed the role of HH in the generation of the GS as well as in the process of secondary epileptogenesis. Electrophysiologic properties of small γ‐aminobutyric acid (GABA)ergic, spontaneously firing neurons might explain the intrinsic epileptogenicity of HH. Surgical ablation of the HH can reverse both epilepsy and encephalopathy. Gamma‐knife radiosurgery and image‐guided robotic radiosurgery can be useful and safe approaches for treatment, in particular of small HH.