Bilateral generalized polymicrogyria

Bilateral generalized polymicrogyria (BPP) is a rare brain malformation characterized by an excessive number of abnormally small folds (gyri) on the surface of the cerebral cortex affecting both hemispheres diffusely. This condition results from abnormal cortical development during fetal brain formation, leading to a disorganized and thickened cortex with shallow sulci. The malformation primarily affects the central nervous system and can be caused by various genetic mutations or, in some cases, prenatal environmental insults such as intrauterine infections (notably cytomegalovirus) or ischemic events. Several genes have been implicated in polymicrogyria, including GPR56 (ADGRG1), TUBA1A, TUBB2B, and others involved in neuronal migration and cortical organization, with variable inheritance patterns depending on the underlying genetic cause. Clinically, bilateral generalized polymicrogyria typically presents in the neonatal or infantile period with significant neurological impairment. Key features include severe developmental delay, intellectual disability, epilepsy (often refractory to medication), spastic quadriparesis, feeding difficulties, and microcephaly. Seizures may begin in infancy and can be difficult to control. The severity of symptoms tends to be greater in the generalized bilateral form compared to more focal or unilateral polymicrogyria. Some patients may also exhibit oromotor dysfunction, including difficulties with speech, swallowing, and drooling. There is currently no cure for bilateral generalized polymicrogyria, and treatment is primarily supportive and symptomatic. Management focuses on seizure control with antiepileptic medications, physical and occupational therapy to optimize motor function, speech therapy, and nutritional support. In cases of medically refractory epilepsy, surgical options may be considered on a case-by-case basis, though the bilateral and diffuse nature of the malformation often limits surgical candidacy. A multidisciplinary approach involving neurologists, geneticists, rehabilitation specialists, and other healthcare providers is essential for comprehensive care.

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