Rare Combination of Gelastic Epilepsy, Agenesis of the Corpus Callosum, and Hamartoma

Abstract

Gelastic seizures are rare and are associated with different conditions, but mainly with hypothalamic hamartoma. We report on a boy who presented with mental retardation, aggressive behavior, and generalized tonic-clonic and gelastic seizures. Cranial imaging studies revealed a very rare combination of hypothalamic hamartoma and agenesis of the corpus callosum, which was only reported once previously. His seizure activities demonstrated a modest response to anticonvulsants.

Introduction

Gelastic seizures are quite rare in children. They are often associated with hypothalamic hamartoma, pituitary tumors, astrocytomas of the mamillary bodies, and other dysraphic conditions [1]. Gelastic seizures were also reported to occur in temporal lobe epilepsy and in association with an extratemporal focus [2]. Patients with hypothalamic hamartoma typically present with early-onset gelastic seizures and precocious puberty, although considerable variation exists with respect to the initial presentation and clinical course. Seizures attributable to hypothalamic hamartoma, and especially gelastic seizures, are known to be drug-resistant [1]. Agenesis of the corpus callosum is a birth defect that is often discovered incidentally during a neuroimaging study. Most patients with agenesis of the corpus callosum are asymptomatic, but may present with neuropsychologic manifestations such as mental retardation, developmental delay, seizures, and cerebral palsy [1]. Agenesis of the corpus callosum is generally not observed in isolation, but in conjunction with other neurologic deficits and many syndromes, including Dandy-Walker syndrome, Aicardi syndrome, fetal alcohol syndrome, and trisomy 18, 13, or 8 [3]. However, an exclusive association of hypothalamic hamartoma with agenesis of the corpus callosum was reported, to the best of our knowledge, only once, by Alikchanov et al. [4]. We report a child with the same brain malformations as those described in that report, and discuss the neuropsychologic manifestations and treatment of his condition.