The Fault in Their Stars-Accumulating Astrocytic Inclusions Associated With Clusters of Epileptic Spasms in Children With Global Developmental Delay.

BACKGROUND: The presence of cerebral astrocytic inclusions recently has been described in a subset of children with early-onset refractory epilepsy, with or without structural brain malformations, and varying degrees of developmental delay.

METHODS: We describe two new individuals with epilepsy with astrocytic inclusions and suggest that in some children this disorder may represent a unique hemispheric epilepsy. We review previously reported individuals with epilepsy with astrocytic inclusions.

RESULTS: Two children with early onset epilepsy with astrocytic inclusions had refractory clusters of epileptic spasms, developmental delay, abnormal neuroimaging, and hemispheric or diffuse interictal epileptiform discharges. In both children, the initial focal resection of the putative epileptogenic zone was unsuccessful and pathology failed to show astrocytic inclusions. Subsequently, both children underwent functional hemispherectomy due to ongoing clusters of epileptic spasms, and the presence of multilobar astrocytic inclusions was demonstrated. Postoperatively, both children have remained seizure free in the short-term with improved development.

CONCLUSIONS: We highlight that functional hemispherectomy may be required for seizure control in a select subset of children with clusters of epileptic spasms, astrocytic inclusions, and global developmental delay. Given the small number of documented patients, however, ongoing collaboration is needed to better understand the pathophysiology of this condition and determine the optimal way to diagnose and manage these children.