Polymicrogyria

Polymicrogyria (PMG) is a common malformation of cerebral cortex development which is characterized by abnormal cortical layering and excessive folding of the cortex. It is a heterogeneous disease with highly variable etiologies and clinical findings. Although the certain mechanism of polymicrogyria formation is unknown, it can occur as a result of genetic or acquired factors. More than 40 genes have been found to cause PMG if mutated. It can be a part of multiple congenital anomaly syndrome as 22q11 deletion syndrome. Acquired causes include congenital human cytomegalovirus (HCMV) and in utero cerebral ischemia. The distribution of PMG can be focal or diffuse through the cerebral cortex with the perisylvian area as the most common pattern of distribution. PMG patients can be presented with epilepsy, developmental delay, motor disability, microcephaly, and/or any neurological symptoms. Medical, pre-natal, and family history are essential in case the physician suspects PMG. The minority of PMG can be detected in utero using the US. However, MRI constitutes the cornerstone of the clinical diagnosis as it shows the details of the cerebral cortex with high resolution. PMG children require more direct care from their caregivers, nurses, and physicians according to the severity of the case. Proper control of seizures with single or multiple antiepileptic drugs should be pursued. Feeding problems, immobility, and urinary or GIT disturbance, if found, should be managed. Counseling of the family or caregivers is an essential part of the management plan.