Lissencephaly
Definition
- Lissencephaly means "smooth brain."
- It is a rare, gene-linked brain malformation.
- Characterized by:
- Absence of normal convolutions (folds) in the cerebral cortex.
- Abnormally small head (microcephaly).
- Microlissencephaly: Condition where children have reduced head size at birth.
Causes
- Caused by defective neuronal migration during embryonic development.
- Nerve cells fail to move to their permanent location within the cerebral cortex gray matter.
Symptoms
- Unusual facial appearance.
- Difficulty swallowing.
- Failure to thrive.
- Muscle spasms.
- Seizures.
- Severe psychomotor retardation.
- Possible deformities in hands, fingers, or toes.
Associated Diseases
- Isolated lissencephaly sequence.
- Miller-Dieker syndrome.
- Walker-Warburg syndrome.
Diagnosis
- Clinical differentiation can be challenging.
- Consultation with national experts recommended.
- Possible molecular testing.
Treatment
- No cure available.
- Supportive care for comfort, feeding, and nursing.
- Anticonvulsant medications for seizures.
- Shunting for progressive hydrocephalus in Walker-Warburg syndrome.
- Gastrostomy tube for feeding difficulties.
Prognosis
- Varies based on the degree of brain malformation.
- Many children may die before the age of 10 years.
- Common causes of death include aspiration, respiratory disease, and severe seizures.
- Some children may survive with varying degrees of development.
- Importance of specialist advice and family support emphasized.
Research
- NINDS supports studies on normal brain development and neuronal migration.
- Recent genetic studies provide groundwork for future treatments.
Resources
- March of Dimes: Focuses on preventing birth defects and infant mortality.
- National Organization for Rare Disorders (NORD): Aids people with rare diseases.
- The Arc of the United States: Supports individuals with intellectual and developmental disabilities.
Additional Resources
- NINDS Disorders Index offers detailed information on over 500 neurological disorders.
These notes aim to provide a comprehensive overview of lissencephaly, including its characteristics, associated conditions, treatment options, and available resources for support and research.