SPINA BIFIDA

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Genetic Medicine , Paediatrics - Medicine , Neurosurgery

ABOUT THE DISEASE

Spina bifida (SB) is one of the most commonly occurring congenital disorders, caused due to the incomplete development of the fetus’ spine during the first month of pregnancy.

Normally, the developing spinal column starts as an open tube and over time, this tube closes. In SB, the tube does not close all the way during the first month of pregnancy.

Spina bifida is broadly classified into 4 categories based on the severity of symptoms, these are:

• Spina bifida occulta - This is also called "hidden spina bifida" because there are no physical signs. About 15% of healthy people have it and do not know it. Spina bifida occulta is the mildest and most common form of this disorder. It usually only involves a minor fault with one or two of the vertebrae.

• Occult spinal dysraphism (OSD) - Babies with OSD have a dimple in their lower back (although the reverse is not always true). In OSD, the spinal cord may not grow correctly along with the spinal bones. This can lead to serious problems as a child grows.

• Meningocele - It is the least common kind of SB. A meningocele is a sac filled with spinal fluid that is pushed out onto the skin. The sac is usually on the back. There is commonly no nerve damage with this problem. People with a meningocele may have minor disabilities.

• Myelomeningocele (also called meningomyelocele) - This is the most severe form of SB, occuring in 1 out of 1000 births. This causes parts of the spinal cord and nerves to come through the open part of the spine into a sac on the skin at birth. It causes nerve damage and other disabilities. Most children (70-90 percent) with this problem also have too much spinal fluid around their brains (hydrocephalus). The spinal fluid is unable to drain like it should. The fluid builds up. This causes pressure and swelling.

SYMPTOMS

• Occult spinal dysraphism (OSD) - Babies with OSD have a dimple in their lower back. Rarely, spina bifida occulta will cause problems when a child grows to adolescence. By this time in the child’s life, the spinal cord has become fastened to the backbone, so when the growth spurt of adolescence begins, the nerves of the spinal cord become stretched. The result can be difficulties such as weakness and numbness in the legs, bladder infections, and incontinence (lack of bladder and bowel control).
• Meningocele - Babies have a sac filled with spinal fluid, commonly located along the back. The nerves usually are not damaged, so there are no symptoms.
• Myelomeningocele - This usually leads to deformities of the joints in the legs due to paralysis or weakness below the level of the spinal lesion. The patient may not be able to move his or her legs (they may be paralyzed) partially or completely. Walking may be difficult. There may be problems with urine and bowel control. There can be urine or bowel leakage (incontinence) or constipation. Backup of spinal fluid around the brain can cause the head to swell, resulting in irritability, vomiting, unusual tiredness, cause brain damage, seizures, or blindness if it is left untreated.

CAUSES

The causes are not known however pregnant women are advised to take 400 mcg of folic acid (a water-soluble B vitamin often found in leafy green vegetables) every day during pregnancy and before becoming pregnant. This can reduce their risk of having a baby with spina bifida by as much as 70%.

DIAGNOSIS

- Prenatal diagnosis through: Foetal ultrasound, Maternal serum alpha fetoprotein, Amniocentesis.
- Post natal diagnosis through: Physical examination, X-Ray, MRI/CT.

TREATMENT METHODS

Surgery for Spina bifida:

• Occult Spinal Dysraphism (OSD). OSD is treated by early surgery to relieve or prevent the stretching of the spinal cord. Sometimes other surgery and medications are needed to treat pain.

• Meningocele. The treatment of meningocele usually only includes surgical closure of the defect.

• Myelomeningocele (meningomyelocele). Surgery to close the fluid-filled sac is done in the first few days of life. A drainage tube may be needed to drain the excess spinal fluid and pressure around the brain. Orthopedic surgery and bracing may be needed for leg, foot, and hip deformities. The kidneys and bladder need to be looked at by a urologist. Treatment for urine control issues is often needed. Urinary tract infections can be prevented with medication and other treatments. Diet, medication, and enemas can be used for bowel control.

Many individuals with SB will need assistive devices such as braces, crutches, or wheelchairs.