A neuropathological study of two autopsy cases of syndromic hemimegalencephaly.

Hemimegalencephaly (HMEG) is a malformation of cortical development characterized by unilateral enlargement of the cerebral hemisphere, severe architectural and cellular abnormalities and association with intractable epilepsy. HMEG may represent an isolated lesion of the central nervous system, but may also be associated with several neurocutaneous syndromes. In the present study we discuss the neuropathological findings of two autopsy cases of HMEG associated with linear naevus sebaceous syndrome. Both cases showed the presence of linear naevus sebaceous on extensive areas of the face. The neurochemical profile of the glial and neuronal components in the affected hemisphere was determined using immunocytochemical markers and was compared with the unaffected contralateral hemisphere and normal control tissue. The observed cytomegalic neurones expressed receptors for distinct neurotransmitters, neuropeptides and growth factors. Analysis of components of the phosphoinositide 3-kinase pathway revealed expression of phospho-S6 ribosomal protein in cytomegalic neurones. Autopsy findings confirm the complexity of the histologic phenotypic manifestations in HMEG and proved useful in determining the spectrum of cytoarchitectural and neurochemical abnormalities, underlying the molecular pathogenesis and epileptogenesis of this brain malformation.