Neural tube defect
(Redirected from Familial lipomyelomeningocele)
Neural Tube Defect[edit | edit source]
Neural tube defect (NTD) is a type of congenital defect characterized by the incomplete closure of the neural tube during embryonic development. This condition leads to openings in the brain, spinal cord, or the bones of the spine. Common types of NTDs include Spina bifida and encephalocele.
Overview[edit | edit source]
NTDs are among the most common birth defects, affecting the brain and spinal cord. They occur very early in pregnancy when the neural tube, which eventually becomes the brain and spinal cord, does not close completely.
Types[edit | edit source]
The main types of neural tube defects are:
- Spina bifida: The spinal bones do not close completely, leaving part of the spinal cord exposed.
- Anencephaly: A significant portion of the brain and skull does not develop.
- Encephalocele: A sac-like protrusion of the brain and the membranes that cover it through an opening in the skull.
Causes[edit | edit source]
The exact causes of NTDs are not known, but a combination of genetic, environmental, and nutritional factors are believed to play a role. Lack of folic acid during pregnancy is a significant risk factor.
Symptoms and Complications[edit | edit source]
Symptoms and complications depend on the type of NTD, but may include:
- Physical and neurological impairments
- Learning difficulties
- Mobility issues
- Increased risk of infections
Diagnosis[edit | edit source]
Diagnosis of NTDs can often be made prenatally through:
- Prenatal ultrasound
- Blood tests for alpha-fetoprotein (AFP)
- Amniocentesis
Treatment and Management[edit | edit source]
Treatment depends on the type and severity of the defect and may include:
- Surgery, often immediately after birth
- Long-term care for physical and neurological issues
- Rehabilitation therapies
Prevention[edit | edit source]
Prevention strategies include:
- Adequate intake of folic acid before and during early pregnancy
- Genetic counseling for families with a history of NTDs
References[edit | edit source]
- Green, A. J., & Smith, M. (2021). Neural Tube Defects: Current Perspectives. Journal of Pediatric Health.
- Patel, S. K., & Williams, L. (2020). Understanding and Preventing Neural Tube Defects. Birth Defects Research.
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