What does pachygyria mean?
Pachygyria is a developmental condition due to abnormal migration of nerve cells (neurons) in the developing brain and nervous system. With pachygyria, there are few gyri (the ridges between the wrinkles in the brain), and they are usually broad and flat.
How rare is pachygyria?
The overall incidence of Pachygyria is rare and estimated around 1.2/100,000 births. How is Pachygyria diagnosed? If suspected before birth, Pachygyria may be confirmed by specialized testing during pregnancy, such as cell-free fetal DNA, amniocentesis or chorionic villus sampling (CVS).
What is lissencephaly pachygyria?
The condition is characterized by agyria or pachygyria, which means absence or incomplete development, respectively, of the brain gyri or convolution, causing the brain’s surface to appear unusually smooth. Infants with classical lissencephaly may have a head that is smaller than would be expected (microcephalic).
What is smooth brain syndrome?
Lissencephaly, which literally means “smooth brain,” is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head (microcephaly). In the usual condition of lissencephaly, children usually have a normal sized head at birth.
What causes Pachygyria?
Pachygyria is caused by a breakdown in the fetal neuronal migration process due to genetic or possibly environmental influences. The affected cerebral cortex will typically have only four developed layers instead of the normal six.
Is lissencephaly cerebral palsy?
It is to consider lissencephaly in the diagnosis of developmental delay with seizure disorder as many patients may be diagnosed as cerebral palsy. Several lissencephaly syndrome have been described, Here three cases of lissencephaly with developmental delay and Intractable seizures are reported.
