Lissencephaly type 4 is a rare and autosomal recessive neurodevelopmental disorder that is characterized by lissencephaly as well as severe brain atrophy, extreme microcephaly which is an abnormally small head and also profound intellectual disability.
Lissencephaly type 4 is also referred to as microlissencephaly and is caused by mutations in the NDE1 gene and is also associated with defects in mitotic spindle function, cerebral cortical neurogenesis and neuronal proliferation.
Lissencephaly type 3 is a severe malformation of the brain which is characterized by a smooth brain surface called agyria or pachygyria as well as other associated abnormalities.
Type 3 lissencephaly is a rare, genetic condition that is mainly caused by mutations in the TUBA1A gene and people affected with lissencephaly type 3 often also experience motor delays, severe intellectual disability and seizures and may also have abnormalities in other brain structures such as the corpus callosum, brainstem, cerebellum and hippocampus.
Type 1 lissencephaly is characterized by a smooth brain surface and a thickened cortex and also often with a band of abnormal tissue that is below the cortex.
Type 2 lissencephaly is also called cobblestone lissencephaly and is characterized by a bumpy, pebbled cortical surface that is due to abnormal neuron migration.
Type 2 lissencephaly is also frequently associated with eye and muscle abnormalities.
Type 1 lissencephaly is classic lissencephaly which is a malformation of the brain that is characterized by a smooth instead of a convulted brain surface.
With a smooth and not convoluted brain surface it means that the brain lacks the normal folds called gyri and grooves called sulci which are often present in a healthy brain.
Lissencephaly can occur as an isolated condition or even along with and associated with certain syndromes.
Lissencephaly can be diagnosed through prenatal ultrasounds and screenings such as aminocentesis and fetal magnetic resonance imaging.
Most doctors though diagnose lissencephaly at birth through a physical evaluation and head imaging tests.
A prenatal ultrasound is commonly used for detecting and diagnosing of lissencephaly which is a brain malformation that is characterized by a smooth brain surface.
An MRI can also provide more detailed images of the brain and also help in the diagnoses of lissencephaly.
A high resolution ultrasound can visualize the brain's surface and also detect the absence or reduction of gyri and sulci, which are both characteristic of lissencephaly.
The facial features of lissencephaly are a prominent forehead, upturned nose, sunken midface and thick upper lip.
Some people that have lissencephaly may also have low set or even abnormally shaped ears, a small head or even a small jaw.
A tall and prominent forehead is a common feature of lissencephaly along with sometimes vertical furrowing.
The virus that causes lissencephaly is the CMV virus also known as the Cytomegalovirus.
Genetic mutations are a common cause of Lissencephaly although Cytomegalovirus and other intrauterine viral infections can disrupt the normal nuronal migration during the fetal brain develop and cause lissencephaly.
Lissencephaly is caused by both non genetic and genetic factors and also develops in fetuses between the 12th weeks and 24th weeks of pregnancy.
Lissencephaly is not a cerebral palsy although it can be associated with cerebral palsy.
Lissencephaly is a brain malformation that is characterized by a smooth brain surface which is a result of incomplete neuronal migration during the fetal development.
Cerebral palsy is a group of neurological disorders which affect movement and posture and often stems from brain damage that occurs before birth, during birth or even shortly after birth.
Lissencephaly is a spectrum of severe and rare brain malformations and is caused by non genetic and genetic factors.
Lissencehpahy is a condition that involves a smooth brain surface as a result of a lack of normal brain folds called gyri and grooves called sulci.
The smooth brain surface in Lissencephaly is a result of abnormal neuronal migration during fetal development.
Cerebral palsy is a bread term for a range of neurological conditions which affect a persons movement as well as coordination and can result from various different brain injuries or brain malformations that occur, before, during or even after birth and lead to difficulties with muscle control, posture and movement.
Although lissencephaly is a specific brain malformation, it can also lead to symptoms which also overlap with the symptoms of cerebral palsy, like developmental delays, motor impairments and even seizures.
And so some people with lissencephaly may even initially be diagnosed with cerebral palsy, especially in cases of severe developmental delay and motor issues.