The prognosis for Microlissencephaly is generally poor and many people experience early death from microlissencephaly.
Survival with microlissencephaly varies from days to years depending on the specific genetic cause and other factors as well.
Microlissencephaly is a severe brain malformation that means the person has both a smooth brain also known as lissencephaly and an abnormally small head size called microcephaly.
Microlissencephaly is a rare condition that often has a fatal outcome during the neonatal period.
With lissencephaly the brain's surface is smooth instead of normally having the normal folds and ridges called gyri and sulci.
Microcephlay is when the heads circumference is significantly smaller than average.
And people with microlissencephaly experience severe developmental delays including seizures, intellectual disabilities and spasticity.
Many babies born with microlissencephaly sadly die in the neonatal period or shorter after they are born.
Microlissencephaly is caused by a variety of genetic mutations and developmental issues.
Diagnoses of microlissencephaly can be done between the 34 to 35 gestational weeks prenatally using MRI.
At birth, lissencephaly and a head circumference that is less than three standard deviations below the mean are also indicative of microlissencephaly.
Another good tool for genetic diagnoses and microlissencephaly is exome sequencing.
The condition microlissencephaly is often caused by mutations in genes that are involved in neural tube closure, neuronal migration or neurogenesis.
Mutations in the genes such as CITRON KINASE (CIT) also have been linked to microlissencephaly and it can also be inherited in an autosomal recessive pattern.