Microlissencephaly
Microlissencephaly
Microlissencephaly (pronounced: micro-lis-en-cephaly) is a rare neurological disorder characterized by abnormal brain development.
Etymology
The term "Microlissencephaly" is derived from the Greek words "micros" meaning small, "lissos" meaning smooth, and "kephale" meaning head. This refers to the condition's characteristic of having a smaller and smoother cerebral surface than normal.
Definition
Microlissencephaly is a severe form of lissencephaly, a condition where the surface of the brain appears smooth due to the absence or underdevelopment of brain folds (gyri) and grooves (sulci). In Microlissencephaly, the brain is also significantly smaller than average (microcephaly), and there is a reduction in the size of the cerebral hemispheres.
Symptoms
Symptoms of Microlissencephaly can include developmental delay, intellectual disability, seizures, and difficulties with coordination and balance. Some individuals may also have abnormalities in other parts of the body.
Causes
Microlissencephaly is typically caused by mutations in specific genes that are involved in the development of the brain. These can include the PAFAH1B1, DCX, and TUBA1A genes. The condition is usually inherited in an autosomal recessive manner.
Diagnosis
Diagnosis of Microlissencephaly is typically made through a combination of clinical examination, genetic testing, and imaging studies such as MRI or CT scan.
Treatment
There is currently no cure for Microlissencephaly. Treatment is supportive and based on the symptoms present in each individual. This can include medications to manage seizures, physical therapy to improve motor skills, and special education services to address developmental delays.
Prognosis
The prognosis for individuals with Microlissencephaly varies. Some individuals may have a normal lifespan with appropriate management of symptoms, while others may have a shortened lifespan due to complications such as recurrent seizures or respiratory problems.
See also
External links
- Medical encyclopedia article on Microlissencephaly
- Wikipedia's article - Microlissencephaly
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