Background. Hypothalamic Hamartoma (HH) has been recognized as etiologic factor of a catastrophic infantile epileptic encephalopathy, whose hallmark are early-onset gelastic seizures (GS), associated with precocious puberty (PP). Recently, different clinical features have been related to GS-HH. Purpose. To delineate clinical spectrum and evolutive characteristics of the GS-HH syndrome. Patients and Methods. Patients with HH, observed since 1986, for whom at least one ictal VEEG or EEG recording of GS was available. Results. 6 subjects (4 M, 2 F), with sessile HH ranging 0.8-1.7 cm in diameter. Clinical onset: GS (2 months-20 years); evolution towards a secondary generalized epilepsy (SGE) in 1, drug-resistant (DR) partial seizures (usually complex), 2-13 years after GS onset. No patients had PP. Severe cognitive impairment in SGE patient, mild cognitive defect in other two. Patients with HH less than 1 cm in diameter did not showed neuropsychological or behavioural disturbances; DR was present in all cases. Surgical removal of HH markedly improved the clinical evolution in 2 pts. Conclusions. GS-HH syndrome may show a different spectrum of severity and course. Catastrophic evolution, and DR can be reversible after surgical (or by gamma-knife) ablation of HH.
|Translated title of the contribution||The spectrum and the natural history of gelastic seizures-hypothalamic hamartoma syndrome|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Jul 2003|
ASJC Scopus subject areas
- Clinical Neurology