Summary about Disease
Diastematomyelia is a rare congenital birth defect in which the spinal cord is split into two hemicords, each contained within its own dural sac. This split is usually longitudinal and occurs most commonly in the lumbar region of the spine. It can be associated with bony or cartilaginous spurs arising from the vertebral body and passing through the spinal cord. The condition can lead to neurological deficits due to tethering of the spinal cord.
Symptoms
Symptoms vary depending on the severity and location of the split. Common symptoms include:
Skin abnormalities over the lower back (e.g., hairy patch, dimple, lipoma, birthmark).
Scoliosis or other spinal deformities.
Leg weakness or numbness.
Bowel and bladder dysfunction (incontinence or retention).
Foot deformities (e.g., clubfoot, cavus foot).
Pain in the back or legs.
Progressive neurological decline, particularly during growth spurts.
Causes
Diastematomyelia is a congenital condition, meaning it is present at birth. The exact cause is unknown, but it is thought to result from errors during the early stages of embryonic development of the neural tube (which forms the brain and spinal cord). There is no known genetic predisposition.
Medicine Used
There is no medication to "cure" diastematomyelia. Treatment focuses on managing symptoms and preventing further neurological damage. Medications may be used to manage:
Pain (analgesics, neuropathic pain medications).
Muscle spasms (muscle relaxants).
Bowel and bladder dysfunction (medications to improve bladder control or manage constipation).
Antibiotics may be used to treat infections if needed. Surgical intervention is often required to release the tethered spinal cord and remove any bony spurs.
Is Communicable
Diastematomyelia is not communicable. It is a congenital birth defect, not an infectious disease.
Precautions
There are no specific precautions to prevent diastematomyelia as it is a congenital condition. Individuals with diastematomyelia should:
Follow their doctor's recommendations for managing their condition.
Avoid activities that could exacerbate spinal cord tethering or injury.
Maintain good skin hygiene to prevent infections in areas with skin abnormalities.
Report any new or worsening symptoms to their doctor promptly.
How long does an outbreak last?
Diastematomyelia is not an "outbreak" based disease. Once symptoms starts they may become life long.
How is it diagnosed?
Diastematomyelia is typically diagnosed through imaging studies:
MRI (Magnetic Resonance Imaging): Provides detailed images of the spinal cord and surrounding structures, allowing visualization of the split cord and any associated abnormalities.
CT (Computed Tomography): Can help identify bony spurs or vertebral anomalies.
X-rays: May show spinal deformities, but are less useful for visualizing the spinal cord itself. Neurological examination is also crucial to assess the extent of any neurological deficits.
Timeline of Symptoms
The timeline of symptoms can vary greatly.
Infancy: Some babies may have noticeable skin abnormalities or foot deformities at birth.
Childhood: Symptoms may become more apparent as the child grows and develops, particularly during growth spurts. Scoliosis, leg weakness, or bowel/bladder issues may emerge.
Adulthood: Some individuals may not experience symptoms until adulthood, when spinal cord tethering worsens over time.
Progressive decline: Without treatment, symptoms tend to worsen over time as the spinal cord becomes more tightly tethered.
Important Considerations
Early diagnosis and intervention are crucial to prevent or minimize neurological damage.
Surgical detethering can improve symptoms and prevent further deterioration, but it does not always completely eliminate all neurological deficits.
Long-term follow-up is necessary to monitor for recurrence of tethering or other complications.
Multidisciplinary care involving neurosurgeons, orthopedists, urologists, and other specialists is often required.
Living with diastematomyelia can be challenging for both the affected individual and their family. Support groups and resources can provide valuable assistance.