title: Hyaline protoplasmic astrocytopathy in the setting of tuberous sclerosis.
abstract: Hyaline protoplasmic astrocytopathy is a rare disorder marked by an accumulation of protein material in the cytoplasm of astrocytic cells, mostly in the cortex. The finding has been described in Aicardi syndrome (agenesis of the corpus callosum, chorioretinal lacunae and infantile spasms) as well as in patients with pharmacoresistant epilepsy and in association with focal cortical dysplasia, polymicrogyria and nodular heterotopia. This report describes the first case of this entity described in a patient with tuberous sclerosis. The patient was a 3-year-old boy who presented at age 2months with medically intractable seizures. Has mother has a tuberous sclerosis 2 (TSC 2) gene abnormality and a diagnosis of tuberous sclerosis. On imaging, he was noted to have multiple lesions in the left parietal and temporal lobes consistent with focal cortical dysplasia and a subependymal nodule. He additionally had two hypopigmented lesions on the skin. He underwent resection of the left parietal lobe 32months after seizure onset. Histopathologic examination showed eosinophilic cytoplasmic inclusions within astrocytes in the cortex and superficial white matter focally accompanied by a disordered cortical architecture with dysmorphic neurons and balloon cells, consistent with focal cortical dysplasia classified as type IIb according to International League Against Epilepsy classification criteria (ILAE type IIb). At the time of most recent follow-up, 93months postoperatively, he is still experiencing seizures with overall worthwhile improvement while on seizure medication.
authors.affiliation: Cleveland Clinic Department of Anatomic Pathology, L25 Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA. Electronic address: praysor@ccf.org.
authors.forename: Richard A
authors.initials: RA
authors.lastname: Prayson
mesh_terms: D001253:Astrocytes / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002675:Child, Preschool; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D002479:Inclusion Bodies / Q000473:pathology; D008297:Male; D054220:Malformations of Cortical Development / Q000209:etiology* / Q000473:pathology / Q000628:therapy*; D009474:Neurons / Q000473:pathology; D019635:Neurosurgical Procedures; D010296:Parietal Lobe / Q000473:pathology; D012640:Seizures / Q000209:etiology / Q000601:surgery; D013702:Temporal Lobe / Q000473:pathology; D014402:Tuberous Sclerosis / Q000150:complications* / Q000235:genetics / Q000473:pathology
keywords: Epilepsy; Focal cortical dysplasia; Hyaline protoplasmic astrocytopathy; Tuberous sclerosis