Spina Bifida: Symptoms and Complications

Definition of spina bifida

The term "spina bifida" defines a genetic defect of the rachis, characterized by the lack of welding of the vertebral arches. Spina bifida is a complex and heterogeneous disease, probably the most common malformation of the peripheral nervous system.

Spina bifida can affect any segment of the spine (cervical, thoracic, lumbar, sacral); despite this, most cases of spina bifida are diagnosed in the low back.
The incomplete closure of the spinal column triggers serious and irreversible damage to the victim, such as loss of mobility of the lower limbs, inability / difficulty to control the sphincters, urological and neurological complications. Although spina bifida should not involve the mental faculties of the affected child, many patients show learning and attention deficits, more or less marked. Still, some children affected by spina bifida present relationship difficulties, low self-esteem and psychological problems in general. Although the intellectual deficit of children with spina bifida often constitutes a " scientific evidence, the complex mechanism that relates them has not yet been clarified.

Classification and symptoms

For further information: Spina Bifida Symptoms

The signs and symptoms that distinguish spina bifida depend on the severity of the disease. In fact, several variants have been identified:

Spina bifida occulta
Meningocele (meningeal cyst)
Myelomeningocele (spina bifida Aperto)

SPINA BIFIDA OCCULTA: this is the mildest variant of the disease. In spina bifida occulta, the ends of some vertebrae are not completely closed; however, their splitting is so light that it prevents the spinal cord from protruding. Near the lesion, the skin may also appear normal or have a tuft of hair (hypertrichosis), an angioma-like patch or a slight dimple.

Signs and Symptoms: Spina bifida occulta is generally ASYMPTOMATIC, since it does not involve the spinal nerves. Some people with spina bifida occulta have a slight asymmetry of the legs and feet.

Most affected people discover the disease by chance during a normal x-ray examination of the vertebral column. Spina bifida occulta does not cause long-term sequelae. Until a few years ago, it was believed that people with the occult variant of spina bifida were more at risk for back pain. However, recent scientific studies have shown that there is no proven relationship between lower back pain and spina bifida occulta.

MENINGOCELE (meningeal cyst or cystic spina bifida): it is the rarest variant of spina bifida. In this pathology, the vertebrae develop normally but the meninges are embedded in the intravertebral space. The nervous system is not damaged, so long-term neuronal damage is rather unlikely. This form of spina bifida is probably caused by teratoma (tumor of the embryonic tissues), tumors in the coccyx and presacral space and Currarino syndrome.

Signs and symptoms: in cystic spina bifida, the signs and symptoms are more evident and marked than in the previous variant.
- Formation of an "evident HERNIA OF THE DURAL SACCA (containing spinal cord and meninges)
- Sensory dysfunctions, FLACCID PARALYSIS
- Alteration of muscle strength, leading to DEFORMITY OF THE SPINE, contractures of the limbs and dislocations
- Possible formation of HYDROCEPHALUS (accumulation of CSF in the cavities - or ventricles - of the brain)
- CONVULSIONS
- Alterations in cognitive ability

MYELOMENINGOCELE (spina bifida Aperto) is the most severe form of spina bifida, which also involves the spinal cord. In common parlance, it is customary to speak of spina bifida to mean myelomeningocele. In this pathology, the subject's spinal canal remains open; consequently, the meninges and the spinal cord protrude, thus originating a protruding sac at the level of the back. In some cases, this pouch is covered with a layer of skin or a membrane; often, however, the tissues and nerves are exposed, so the patient is at risk of serious infections (eg meningitis), which can lead to death.

Signs and Symptoms: Symptoms are severe, often responsible for catastrophic short- and long-term complications:
- INTESTINAL AND BLADDER ALTERATIONS: the affected subject loses control of the anal and bladder sphincters
- CONVULSIONS
- Extremely developed corpus callosum
- Extreme MUSCLE WEAKNESS and PARALYSIS
- DEFORMITY "€ at the level of the feet, pelvis, knees
- DIFFICULTY "€ OF WALKING
- SCOLIOSIS

Common symptoms and complications

The propensity of spina bifida patients to develop allergy to latex is particular: according to what is reported by the SBAA (Spina Bifida Association of America), it appears that 50-73% of spina bifida patients also developed a marked sensitivity to latex proteins. Probably, the explanation is quite simple: these patients need constant medical care, therefore they are often in contact with latex medical equipment (in fact, latex is a natural material widely used in the production of health products, such as gloves, masks, tubes. etc.).
In a multifaceted pathology such as spina bifida, complications cannot be missing. The patient's clinical picture, already complex in itself, can degenerate to the point of triggering increasingly marked physical defects, neurological complications and difficulties in integration and socialization.
It is believed that 60% of children with spina bifida have serious learning problems (especially in mathematics and reading) even if - as mentioned - the mechanism that arises at its origins is not perfectly understood.
Some patients affected by spina bifida also have evident ocular anomalies: eye movements are abnormal and uncontrolled. Pressure sores and skin irritations are also frequently diagnosed in these patients.
From medical observations, it is clear that people with spina bifida have social difficulties. This inability to relate does not change with age: generally, even the adult with spina bifida is unable to hold a conversation with peers.
Speech skills can also be severely impaired in the patient with spina bifida.