Central bilateral macrogyria

Central bilateral macrogyria, also known as bilateral perisylvian polymicrogyria or congenital bilateral perisylvian syndrome (CBPS), is a rare malformation of cortical development characterized by abnormally thick, broad gyri (macrogyria) affecting the central and perisylvian regions of both cerebral hemispheres. The condition results from abnormal neuronal migration and cortical organization during fetal brain development. On detailed neuroimaging, what appears as macrogyria often represents polymicrogyria — an excessive number of abnormally small, fused gyri that give the cortical surface a thickened, irregular appearance. The condition primarily affects the central nervous system and manifests with a characteristic clinical triad: pseudobulbar palsy (causing difficulties with tongue and jaw movements, swallowing, and speech), cognitive impairment of variable severity, and epilepsy. Seizures typically begin in childhood and may be difficult to control with standard antiepileptic medications. The pseudobulbar features lead to significant oromotor dysfunction, including dysarthria, drooling, and feeding difficulties. Mild to moderate intellectual disability is common, though cognitive abilities can range from normal to severely impaired. There is no curative treatment for central bilateral macrogyria. Management is supportive and multidisciplinary, focusing on seizure control with antiepileptic drugs, speech and language therapy, occupational therapy, and nutritional support for those with feeding difficulties. Some patients with drug-resistant epilepsy may be evaluated for epilepsy surgery, though the bilateral nature of the malformation often limits surgical options. Genetic counseling is recommended, as both sporadic and familial cases have been reported, with some families showing X-linked inheritance patterns linked to genes involved in cortical development.

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