Schizencephaly is a condition where the spinal canal does not fully close or develop properly during the prenatal period. The spinal canal is the bony structure surrounding the spinal cord, facilitating nerve communication between the spinal cord and the brain. Schizencephaly is a congenital anomaly that typically emerges in the early stages of fetal development. During normal spinal development, the spinal canal is completely encased and protected by the spinal bones. However, in the case of schizencephaly, the spinal canal may remain partially or fully open, allowing part of the spinal cord to protrude and exposing nerve tissue.
Schizencephaly can occur due to a variety of reasons where the bones protecting the spinal cord do not fully develop and close. While the exact causes of this condition are not entirely understood, genetic factors and environmental influences are believed to play a role. The severity and effects of schizencephaly depend on the size and location of the spinal opening. In some cases, symptoms may be mild and not require treatment, while in others, it can cause severe neurological issues, spinal cord damage, and physical disabilities. Treatment usually involves surgical intervention to try to close the spinal canal. However, schizencephaly treatment can vary depending on the case and symptoms, sometimes requiring rehabilitation and long-term care.
What are the Causes of Schizencephaly?
Although the exact cause of schizencephaly is not fully known, it is believed to arise from the interaction of various genetic and environmental factors. Potential causes involved in the development of schizencephaly include:
Genetic Factors: Certain genetic mutations or hereditary factors can affect the normal development of the bones surrounding the spinal cord, leading to schizencephaly.
Fetal Development Anomalies: Abnormalities occurring in the normal development of the spine and spinal cord in unborn babies can contribute to the formation of schizencephaly.
Environmental Factors: Environmental factors that the mother is exposed to during pregnancy can increase the risk of schizencephaly.
Folic Acid Deficiency: Insufficient folic acid intake during pregnancy can prevent the proper closure of the spinal cord, increasing the risk of schizencephaly.
Other Medical Conditions: Certain medical conditions during pregnancy can especially lead to schizencephaly.
What are the Symptoms of Schizencephaly?
Symptoms of schizencephaly may include:
- an abnormal protrusion or a reddish spot on the skin covering the spine area
- problems with urination or defecation
- loss of sensation in the feet, legs, or hips
- weakness in the leg and/or arm muscles
- increased muscle tightness or spasticity in the legs
- increase or decrease in reflexes in the legs or feet
How is Schizencephaly Diagnosed?
The diagnosis of schizencephaly is usually made after birth or during childhood. Diagnosis generally involves the following steps:
Physical Examination: Signs such as an abnormal protrusion or a reddish spot on the skin covering the spine area, like meningocele, are looked for.
Imaging Tests: The most commonly used imaging tests for diagnosing schizencephaly are magnetic resonance imaging (MRI) or computed tomography (CT) scans.
Spinal Fluid Analysis: Rarely, spinal fluid analysis may be performed to confirm the diagnosis or rule out other neurological conditions.
Genetic Tests: In some cases, genetic tests may be conducted to identify the underlying genetic causes of schizencephaly.
Fetal Ultrasonography: If schizencephaly can be detected during pregnancy, fetal ultrasonography may be used.
How is Schizencephaly Treated?
Treatment of schizencephaly generally involves surgical intervention aimed at closing or correcting the spinal canal:
Surgical Intervention: The surgery aims to close or correct the spinal canal. This may include correcting the bones surrounding the spinal cord, protecting nerve tissue, and preventing spinal cord damage.
Physical Therapy and Rehabilitation: These programs are designed to increase muscle strength, improve mobility, and enhance quality of life.
Symptomatic Treatment: This may include medications to manage urination or defecation problems, pain relievers to alleviate pain, or anticonvulsant drugs to control seizures.
Psychosocial Support: Psychosocial support may be provided to cope with the physical and emotional challenges that schizencephaly may cause.
How Should Schizencephaly be Managed?
The management of schizencephaly aims to optimize long-term health and quality of life. The management plan should be tailored to the patient’s specific needs and symptoms:
Regular Monitoring and Follow-up: This ensures monitoring the patient’s condition, evaluating symptoms, and updating the treatment plan as necessary.
Surgical Intervention and Rehabilitation: If surgical intervention is required, post-operative rehabilitation programs should be initiated.
Symptomatic Treatment: Appropriate medications can be used for symptoms such as urination or defecation problems, pain, or seizures.
Physical Therapy and Supportive Therapies: Physical therapy and rehabilitation programs can increase muscle strength, improve mobility, and enhance quality of life.
Psychosocial Support: Resources such as psychological support, counseling, or support groups can be provided to cope with the physical and emotional challenges caused by schizencephaly.
Education and Information: The patient and their family should be informed about schizencephaly, and open communication should be maintained regarding the treatment plan.
Lifestyle Changes: A healthy lifestyle can support the patient’s overall health. This includes a balanced diet, regular exercise, adequate sleep, and stress management.
