Clinico-pathological investigations of one case of Sturge-Weber syndrome with focal cortical dysplasiaIIA

Abstract

Objective To investigate the clinical and pathologic features of one patient diagnosed as Sturge-Weber syndrome (SWS). Methods The clinical profile，preoperative magnetic resonance imaging (MRI) studies，and pathology report of one patients with SWS and medically intractable epilepsy were reviewed retrospectively. Results CT scan displayed a dense gyri-form calcification area on the surface of the left frontal lobe.MRI demonstrated a low signal gyri-form area of superficial cortex in the left frontal lobe，and atrophy of the corresponding area.Under microscope，abundant dilated capillaries and vein vessels were found in subarachnoid space.There were a plenty of calcification focused on full-thickness cerebral cortex，especially superficial cortex.The cortex near the calcification exhibited dyslamination and dysmorphic neurons，but no balloon cells.Immunohistochemical study was also performed，and those dysmorphic neurons were positive for neuron-specific nuclear protein，microtubule-associated protein 2，SMI32R and neurofilament.The pathologic diagnosis was SWS with focal cortical dysplasiaⅡA. Conclusions Focal cortical dysplasiaⅡA can be found in SWS，and may play a major role in epileptogenesis of SWS.Complete resection of focal cortical dysplasiaⅡA is considered as a key prognostic factor for the outcome of epilepsy surgery.It is important to combine chronic subdural recording，anatomic and functional neuroimaging including PET-CT，and histopathologic examination to localize an epileptogenic focal cortical dysplasiaⅡA lesion in patients with SWS. Key words: Sturge-Weber syndrome; Malformations of cortical development; Epilepsy