Cognitive and behavioral dysfunction in children with hypothalamic hamartoma and epilepsy

Hypothalamic hamartoma (HH) syndrome comprises the clinical triad of epilepsy, developmental retardation, and central precocious puberty. A predominant opinion has been that the acquired cognitive and behavioral disorders observed in children with this syndrome are a direct effect of their seizure activity. A review of the recent literature suggests that this opinion needs to be revised because it is only partially supported by the data. The size of the HH and its anatomic attachment/location, in addition to the seizure history, appear to contribute to the cognitive and behavioral disturbances in children with HH. Small sample sizes and the inability to use standard neuropsychological testing scales in more severely affected HH patients complicate the study of causality. The present literature, however, suggests that multiple factors contribute to the cognitive and behavioral problems of these children.