What is it?
This malformation is a very serious and rare birth defect, but compatible with fetal survival.
Due to developmental abnormalities that usually occur in the first 8-10 weeks of pregnancy (genetic factors, folic acid deficiency), the posterior part of the spinal canal from which the spinal cord, dura mater and vertebrae develops does not close. The defect may be only a few centimeters or affect most of the spinal column.
Often, the muscles and skin above the defect also fail to develop properly, leaving nerve structures open (open spina bifida).
A myelomeningocele is spoken of if both the spinal cord and the dura mater are affected, but a meningocele is spoken of if only the dura mater is affected.
Which are the symptoms?
Other problems such as hydrocephalus (80-90% of cases) or Chiari malformation (70-80% of cases) are very often associated with the above defects.
This pathology invariably leads to sensory and motor abnormalities in the lower extremities, impaired sphincter control and often breathing and swallowing problems.
The mental development of such children is normal.
How is it diagnosed?
Diagnosis is usually carried out in utero during morphological ultrasound examinations performed during pregnancy.
How is it treated?
Since this is a complex pathology, the treatment must be multidisciplinary, with special consideration of the accompanying urological, orthopedic and physical therapy problems.
Surgical intervention, when diagnosed during pregnancy, must be carefully planned, and in cases of open spina bifida it should preferably be performed within a few hours after birth (by cesarean section) to minimize the risk of secondary meningitis infections due to environmental exposure to the nerve structures.
This surgery involves the reconstruction, if possible, of the various anatomical planes affected by the defect, from the medullary structures to the skin.
Occasionally there may be problems associated with infection and scarring of the surgical wound, which are nevertheless resolved with appropriate interventions.
After surgery, the hospital stay will be quite long.
Subsequent interventions and checks
Neurosurgical examinations after surgery should be frequent and aimed at detecting, through periodic magnetic resonance imaging (MRI) procedures of the brain and spinal cord, the occurrence of spinal cord fixation or syringomyelia associated with Chiari malformation or disruption of the retraction system.
In cases where hydrocephalus is also present, this pathology must be eliminated a few days after birth by implantation of a ventriculoperitoneal shunt system.
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