Spina Bifida Occulta Pictures & Images

Spina bifida occulta is the simplest form of the spina bifida in which only the bony defect is present but no protrusion of meninges (protective layers covering the spinal cord) and the spinal cord. Since images and videos play a key role in learning about and learning how to diagnose the condition, we will focus on  visual images in this article.  Therefore, this article is based on some spina bifida occulta pictures with explanations related to the causes, signs and symptoms, diagnosis and treatment of spina bifida occulta.

Spina Bifida Occulta Pictures2

Figure 1: In this picture, hair tuft is shown on the skin just above the vertebra with a bony defect. A red circle is made around the hair tuft. This is the most common sign of spina bifida occulta. It is the tuft of hair on the lower back of a child that makes the neurosurgeon think about spina bifida occulta (Source: www.medical-dictionary.thefreedictionary.com)

Spina Bifida Occulta Picture2

Figure 2: Spina bifida occulta is a neural tube defect that appears in the fetus at 28th days as shown in this picture. The neural tube is not closed properly, perhaps  due to the deficiency of folic acid in the mother’s blood. Folic acid is a vitamin that is helpful in the metabolism of proteins needed for the proper closure of the neural tube to become spine in a developing baby. Note the red circle in the right hand picture where the defect is shown in the spine. (Source: www.glogster.com)

Spina Bifida Occulta Pictures2

Figure 3: In this picture, a dimple is shown on the lower back in the midline. A red circle is made around the dimple. It is also a common sign of spina bifida occulta. Due to a bony defect on the posterior side of vertebra, a space develops and skin is depressed at that point making a dimple on the skin. (Source: www.spinabifidainfo.nl)

Spina Bifida Occulta Pictures2

Figure 4: In this picture another sign of spina bifida occulta is shown. A tuft of hair on the lower back is one of the typical signs of spina bifida occulta. A red circle is made around the hair tuft on this picture. (Source: www.synapse.koreamed.org)


Spina Bifida Occulta Pictures2

Figure 5: In this picture, an abnormal curvature of the spine is shown which is called lordosis. This is also a sign of spina bifida occulta. Lordosis develops in the patients suffering from spina bifida as a space is present in the spinal vertebra and skin depresses due to this space and the curvature of the spine becomes irregular. (Source: www.gopixpic.com)

Spina Bifida Occulta Pictures2

Figure 6: This is a picture of an x-ray of a patient with spina bifida occulta. A red circle is made on the x-ray around the bony defect. Spina bifda occulta is a hidden disease and it is often diagnosed accidently while performing x-rays for another problem. (Source: www.commons.wikimedia.org)

Spina Bifida Occulta Pictures2

Figure 7: Another x-ray of a patient of spina bifida occulta in which bony defect is shown. Note the red circle made around that defect. A red arrow is indicating the exact position of defect on the x-ray film. (Source: www.plkshooter.hubpages.com)

Spina Bifida Occulta Pictures2

Figure 8: This is the picture of CT scan of the spine of a patient with spina bifida occulta. When the diagnosis is not confirmed on x-ray film, a CT scan of the spine is advised to confirm the diagnosis. A red circle is made on the picture where the bony defect is evident in vertebra. (Source: www. en.academic.ru)


Spina Bifida Occulta Pictures2

Figure 9: In this picture, the bony defect in the vertebra is shown. A red circle is made around the defect to indicate the exact position of spina bifida occulta. (Source: www.bioklinika.lv)


Spina Bifida Occulta Pictures2

Figure 11: This is another picture of an ultrasound scan of the fetus while in the mother’s womb where a defect is present on the lower end of the spine through which communication is present between the spinal canal and amniotic fluid. Alpha fetoprotein is an enzyme that is present only in the spinal canal. Due to the communication between spinal canal and amniotic fluid, alpha fetoprotein enters the amniotic fluid from where it is transported to the mother’s blood. This, raised level of alpha fetoprotein in the mother’s blood indicates a neural tube defect. A red circle is made on the picture to point out the exact position of the neural tube defect in the fetus. (Source: www.feto3d.com)

Spina Bifida Occulta Pictures

Figure 12: This is the picture of magnetic resonant imaging (MRI) of the spine of a person that has spina bifida occulta. MRI is the investigation of choice. When spina bifida occulta is not diagnosed by any investigation i.e. x-ray, CT scan or ultrasound, then MRI is the final investigation that is done to diagnose spina bifida occulta. A red circle is made in this slide of MRI to identify the point where the defect in spine in present. (Source: www.radiozen.wordpress.com)

Spina Bifida Occulta Pictures

Figure 13: This is another picture of an MRI scan of a patient with spina bifida occulta. A bony defect in the vertebra is shown. A red circle is made around the specified area on the image that has a defect in vertebra. Depression on the skin is also marked in the red circle. This is seen in the MRI due to high quality of imaging. (Source: www.yhoccongdong.com)

Spina Bifida Occulta Pictures

We hope that the above collection of spina bifida occulta pictures will help you a lot!

References

  1. Horton D,Barnes PPendleton BDPollay M. Spina bifida occulta: early clinical and radiographic diagnosis. J Okla State Med Assoc 1989;82(1):15-9.
  2. Gregerson DM. Clinical consequences of spina bifida occulta. J Manipulative Physiol Ther 1997;20(8):546-50.

 

 

 

Spina Bifida Occulta Symptoms (complications, signs, treatment)

Spina bifida (SB) is a type of neural tube defect (NTD) in which spine fails to enclose some of its bony components. SB is of many types. Spina bifida occulta (SBO) is one of the types of spina bifida. It is the simplest and mildest type of SB. Most of the time, it is missed or not diagnosed because it is covered by skin and no external deformity is seen. The meaning of occulta is hidden. It is hidden by the skin so it is called spina bifida occulta. The only finding in this condition is a small dimple on the skin, tuft of hairs or a red mark on the skin at the site of spinal defect. It can affect any vertebra in the spine but it usually affects the lower vertebra (lumber) of the spine.

It is often found accidently in a person when an x-ray, CT scan or MRI to diagnose another  problem is performed for that person.  Nothing but a small portion of missing vertebra is  shown in the x-ray.

SBO is the most common type of spina bifida, but the prevalence of this disease is still not known properly. According to surveys, about 22 percent to 23 percent people are living with SBO in the United Kingdom.

Complications and Symptoms

Spina bifida occulta is such a mild and simple type that it seldom shows symptoms that are  associated with complications. Although there is a mild chance that a patient with  SBO presents with a slipped disc  and complains of pain radiating to the lower limbs. A slipped disc  applies pressure on the associated spinal nerves [1]. Due to compression of spinal nerves, pain radiates to that region from where these nerves send signals. If a person during his or her childhood life has no complaint of SBO, he/she will never have any complaint in his adulthood life.

In SRO plates of bones that are helpful for the formation of the spinal arch cannot fuse completely. This form of spinal defect usually involves the one vertebra which often is the lowest vertebra of the spinal column. Because this form does not have any effect on the spinal cord or spinal nerves, there is no abnormality or problem associated with bladder, bowel and legs.

However, some patients present with other problems because these problems are related to condition where vertebra is not formed properly. For these people, this problem is more extensive with the spine as compared to the SBO.

If more than one vertebra is involved in the spina bifida lesion, it is referred as occulta spina dysraphism (OSD). This problem may cause the back of person to be little short and rigid. The usual curvature of the back may be overstated and there is abnormal and unusual curvature of the spine. There may be visible bony protrusion in the central line of the back of patient. A bony peg may be formed at some place in the spinal canal and a fibrous band may be formed across it dividing it in two parts. The spinal cord may become extremely wide due to the presence of unusual fibrous tissue in the spinal canal. Due to the disturbance of the spinal canal, the function of bladder, bowel and lower limbs may be affected.

Some other things that are related to this site and influence the normal function of person are given below:

  • Disturbance of the spinal cord and spinal nerves coming out of the spine due to the tough (fibrous) tissues
  • Tumors related to fat cells in the spine, beneath the skin or surrounding tissues
  • Cysts around the spine under the skin
  • Cysts filled with cerebrospinal fluid (CSF) in the affected site of spine
  • Tethered spinal cord or attached to the walls of spinal canal

These structures are not visible and present internally. In addition to these structures, some signs are present on the skin and visible showing that there is underlying problem with the spinal cord. These signs are given below:

  • A tuft of hair on the lower back of person
  • A sinus tract visible on the skin from the skin surface down to the spinal cord
  • A mass under the skin that is visible externally
  • A undeveloped tail
  • A bluish colored swelling over the lower part of spine called “capillary haemangioma”. It is most commonly present over the back of head and not associated with any risk.

Effects of Occulta Spina Dysraphism

As spinal nerves and roots are affected at the spot of lesion, it is said that any problem or disorder from the waist and below in the spine is most commonly due to OSD. The symptoms are mild, moderate and severe depending upon the amount of neural tissue association. The most common symptoms are mentioned below [2]:

  • Muscular weakness of legs or feet
  • Sensory loss in lower limbs
  • Foot deformity
  • Gait problems
  • Problems associated with urinary tract system, i.e. incontinence
  • Problems associated with bowl
  • Abnormal curvature of the spine
  • Back pain

Incontinence problem

If a child has incontinence, he/she can present with the problems given below:

  • Bedwetting that is still present in the child after toilet training
  • Not having awareness of when to pass the urine
  • Inability to control the urine even for a few seconds
  • Continuous dribbling of urine even after passing the urine
  • Recurrent urinary tract infections (UTIs)

Lower Limb Problems

Most patients suffering from OSD have no problems with their lower limbs (muscles or bones). If any problem appears he/she is referred to an orthopedic surgeon for proper management.

Back Pain

Back pain is the most common complaint of every person in our society. Back pain due to OSD is difficult to identify and should be investigated to know the actual cause.

Spina Bifida Occulta Symptoms

This is a picture of spina bifida occulta. A red circle is made around the tuft of hair present on the lower back of patient (Source: www.hello-berlin.net)

Spina Bifida Occulta Symptoms

This is an x-ray film of spina bifida occulta.  A red circle is made around the bony defect present in lumbar region (Source: www. doubtnichts.wordpress.com).

References

1.     Srinivas S, Shetty R, Collins I. Symptomatic lumbar disc protrusion causing progressive myelopathy in a low-lying cord. Global Spine J 2012; 2(2):115–8,

Tavafoghi V, Ghandchi A, Hambrick GW Jr, Udverhelyi GB. Cutaneous signs of spinal dysraphism. Report of a patient with a tail-like lipoma and review of 200 cases in the literature. Arch Dermatol 1978;114(4):573-7.

Spina Bifida Surgery in Utero

Spina Bifida (SB) is a disease in which a defect is present in the bony component of vertebra. It is a congenital disease which occurs before birth. It is diagnosed by screening tests during pregnancy. It is worrisome for a pregnant woman when SB is diagnosed in her developing baby. She worries about the pregnancy, fetus, and the congenital disease of the baby.

One of the options to manage SB is the termination of the baby and that could be very painful for the mother. Now, new options are available for treating SB in utero as surgery has been started in utero to treat spina bifida [1].

Written below are the details of every step of surgery that is performed to correct the SB during pregnancy [2]:

First of all anesthesia is selected for a patient. There are two options: general anesthesia and spinal anesthesia. General anesthesia has many complications, such as,  fetal distress because oxygen saturation is decreased during general anesthesia. Spinal anesthesia is the safest anesthesia for this type of surgery.

Spinal anesthesia is given while the patient is sitting on the operation table. Before anesthesia is given, all the baseline investigations are carried out to check whether any problem is present or not. Then systematic evaluation of the patient is done. If there is no problem,, then the patient is ready for anesthesia to be given.

The patient is brought to the operation theatre and laid on the operation table. All vitals, i.e. pulse, blood pressure, temperature, respiratory rate and oxygen saturation are checked. Folley’s catheter is placed. The patient is preloaded with intravenous fluids. In a sitting position, the back of the patient is exposed and antiseptic measures are performed. An accurate spinal space is identified. A specialized long thin needle called a lumbar puncture (LP) needle is inserted into the located space. When cerebrospinal fluid (CSF) dribbles out of the needle, an injection of anesthesia is injected. After that LP needle is removed and the position of the patient is changed to a supine position immediately,  to avoid falling of blood pressure. Vitals are strictly monitored during the operation.

When the effect of anesthesia appears, the surgeon embarks on the surgery. The patient is exposed and antiseptic measures are performed. An incision is made in the patient’s abdomen where an incision for a  C-section is made. The skin and the tissue below the skin are cut. Muscles are retracted. The uterus is identified and located. It is pulled out of the abdominal cavity. And now, the main steps of surgery commence. The position of the baby is located with the help of ultrasound and the baby is positioned in such a way that  surgery can be performed easily. It is a very delicate surgery; therefore, fine surgery is required.

Magnifying glasses are required to perform this procedure. Sutures used during the surgery are so tiny that they cannot be seen with the naked eye. A special type of cannula called Tulipan-Bruner’s trocar is used to drain the protective fluid around the unborn baby (amniotic fluid) and to place other surgical instruments inside the uterus. Trocar is placed on the uterine wall and amniotic fluid is drained to a warmer. Amniotic fluid is saved in a warmer because it is to be placed again into the uterus after completing the procedure.

When the baby is positioned as needed,  a small and tiny incision is made on the uterus to open the uterus. Now a  tiny baby is in your hand. The defect in the lumbar region on the back of the baby is identified. It is a small jelly like sac. An ultrasound probe is placed on the sac and the type of defect is assessed. An incision is made on the out-pouching. The spinal cord and spinal nerves are positioned back into the spinal canal. The spinal cord is covered with its sheath. The sac is closed with tiny sutures. The bony defect is repaired. The skin of the baby is closed with sutures. Now the main surgery to repair the defect is completed. The baby is placed back into the uterus. Now uterus is ready for closure. Before closure of the uterus, the amniotic fluid that is kept safe in warmer is placed back into the uterus. Now the uterus is closed with fine absorbable sutures.

After closing the uterus, it is placed back into the pelvis and positioned properly. All the pedicles are assessed. All bleeding and oozing of blood is secured. Now it is time to close the abdominal cavity. The peritoneum is stitched. The retracted muscles are also stitched. Fibrous tissue and the tissue below the skin are stitched. In the end, the skin is closed with fine sutures. Antiseptic dressing is placed  on the wound.

On the completion of the surgery, post-operative anesthesia assessment is made. Pulse, blood pressure, respiratory rate and oxygen saturation are checked. The response of the patient to the stimulus is checked. If the patient  is responding well then she is shifted to the recovery room.

This is, a full description of in utero surgery for spina bifida.  It is a very difficult procedure. Very fine surgery is required to perform this operation.

Here are some pictures of  the surgery for the repair of spina bifida while the baby is in mother’s womb.

Spina Bifida Surgery in Utero

Figure 1: This is a picture of spina bifida surgery in utero. In this picture, the uterus is shown outside of the abdominal cavity with an incision made on it. The tiny hand of the fetus is out of the uterus to shake it with the surgeon’s hand to appreciate him for his achievement (Source: www.singularityhub.com)

Spina Bifida Surgery in Utero

Figure 2: In this picture, the spina bifida defect repair is shown. A  red circle is made around the procedure. The spinal cord is placed into the spinal canal and the spinal covering (duramatter) is stitched (Source: www.spinabifidaeffects.com).

Spina Bifida Surgery in Utero

Figure 3: In this picture, the abdominal cavity is opened and the fetus with a spina bifida sac is shown in the uterus. For fetal surgery the uterus is opened and the fetus is placed in such a way that spina bifida sac comes in view of the surgeon. A red circle is made around the sac and incision of the uterus (Source: www.reference.medscape.com).

References

1.     Adzick NS. Fetal surgery for spina bifida: past, present, future. Semin Pediatr Surg2013;22(1):10-7.

2.     Foster MR. Surgery for spina bifida. Available at: http://emedicine.medscape.com/article/2040493-overview. [Last updated May 30, 2014; Accessed on Nov 29, 2014]

Spina Bifida Tests (blood, fetoprotein, ultrasound, Amniocentesis)

Spina bifida is a form of neural tube defect (NTD) that develops in the fetus during intra uterine life. Generally, every mother seems worried about her child whether the baby is normal or suffering from any congenital abnormality. Various screening spina bifida tests are performed during pregnancy to assess the baby while it is growing in its mother’s womb. If intrauterine screening tests are positive for  spina bifida, many other confirmatory tests are also carried out because sometimes these confirmatory tests are positive but the baby is delivered as normal and has no defect. Even though these tests are negative, there is also a chance of having spina bifida in the baby but the chance is very low. Thus, to confirm the initial findings, false negative and false positive tests must be ruled out by performing some additional screening tests.

Blood tests for spina bifida

The following blood tests are performed for screening of spina bifida in the antenatal period, the period before the baby is born:

Maternal serum alpha fetoprotein test

This is a very common test used to check the NTDs in the developing baby. In this test, the mother’s blood is drawn and sent to the laboratory where alpha fetoprotein is checked in the serum of the blood sample [1]. Alpha fetoprotein is a protein that is produced by the baby in the cerebrospinal fluid. A small amount of it crosses through the placenta and appears in the mother’s blood. Normally it is not detected in the mother’s blood. When the baby is with NTDs, alpha fetoprotein found in the CSF achieves a free communication with the fluid which baths the child in uterus (amniotic fluid). From amniotic fluid, it crosses the placenta to reach the mother’s blood. High level of alpha fetoprotein detected in the serum of mother’s blood indicates a NTD is present in the fetus. As alpha fetoprotein is also raised in many other conditions such as liver cancer, testicular tumors and twin pregnancy. If a high level of AFP is detected, the test is repeated after some duration. If again the level is raised in the serum of mother’s blood, then confirmation is done by performing some other tests and ultrasonography.

Other blood tests

Other blood tests performed for screening of the spina bifida include the level of different hormones such as serum beta HCG level, inhibin A level and estriol level. These tests are called triple screen. These tests are not specific for NTDs.

Ultrasound

Ultrasonography is also used to screen the fetus for spina bifida [2]. If AFP level is found high in the mother’s blood, the obstetrician goes for ultrasonography to assure the presence of abnormality. With the help of the ultrasound scan, age of the developing baby and the total number of babies present in the uterus are identified. These two factors also disturb the AFP level. So, it must be determined why the AFP level is high. If gestational age is accurate and fetus is alone in the uterus, then high level of AFP is most probably due to spina bifida. High quality ultrasound scans by an expert sinologists get good images of the fetus in which spina bifida is identified. Severity of the spina bifida is also identified by the ultrasound scan of baby. It is the safest method to identify the problem for both mother and fetus. Ultrasound waves do not produce any harmful effects on the body of mother or the fetus. Most commonly ultrasound scans are performed two times during antenatal period. The first scan is done around the 8th to 14th week of gestation. During this scan, any problem with the spine of baby is indicated if the defect is of a severe type.

The second ultrasound scan is usually done around the 18th to 21st week of pregnancy. This scan is called anomaly scan. The main purpose of this scan is to identify any physical problem with the fetus. In this scan, spina bifida is easily identified.

Amniocentesis

Amniocentesis is the test that is performed on the amniotic fluid to detect the level of alpha fetoprotein in amniotic fluid. Amniotic fluid is obtained under the guidance of ultrasound. After aseptic measures, probe of the ultrasound is placed on the abdomen of the mother. The mother is placed in lateral position. In the position, maximum fluid collects on one side. The position of the fetus is assessed by the scan. A needle is inserted through the abdominal wall under the guidance of ultrasound. The needle reaches into the amniotic cavity. Amniotic fluid is aspirated and sent to the lab for the measurement of alpha fetoprotein level in amniotic fluid. Only a small amount of alpha fetoprotein is normally present in the amniotic fluid. A high level indicates the NTD in the fetus. The high level of alpha fetoprotein results because there is no skin present on the spine to cover it due to open spina bifida and hence alpha fetoprotein is leaked to the amniotic fluid. This test is mildly risky because there is mild risk for termination of pregnancy.

Spina Bifida Test

Figure 1: This picture was taken by ultrasound scan. In this picture, the fetus is shown in the uterus. A red circle is marked around the defect. Open neural tube defect is shown in the picture. Through this defect, free communication develops between the neural tube and amniotic sac (Source: www.sonoworld.com).

Spina Bifida Test

Figure 2: This is a picture of the amniocentesis test. In this picture, a needle is passed through the abdominal cavity to the amniotic cavity.  With the needle amniotic fluid is being taken to measure the level of alpha fetoprotein (Source: www.irishhealth.com).

Spina Bifida Test

Figure 3: This is the picture of ultrasound guided amniocentesis. A needle is passed through the abdominal cavity to get amniotic fluid for analysis. The ultrasound probe is placed on the abdominal wall to assess the position of baby and amount of amniotic fluid (Source: www. pennstatehershey.adam.com).

References

  1. Bernard JP, Cuckle HS, Bernard MA, Brochet C, Salomon LJ, Ville Y. Combined screening for open spina bifida at 11-13 weeks using fetal biparietal diameter and maternal serum markers. Am J Obstet Gynecol 2013;209(3):223.e1-5.
  2. Bernard JP, Cuckle HS, Stirnemann JJ, Salomon LJ, Ville Y. Screening for fetal spina bifida by ultrasound examination in the first trimester of pregnancy using fetal biparietal diameter. Am J Obstet Gynecol 2012;207(4):306.e1-5.

Tethered Cord Symptoms

Tethered cord syndrome (TCS) is a disorder in which spinal cord is attached to the spinal canal during its developmental period. Normally spinal cord is not attached to the spinal canal and is freely mobile in the spinal canal. It can move up and down freely with the growth of the baby and during stretching or twisting the spine. In tethered cord syndrome, spinal cord is attached to the lower end of the spinal canal and stretch is applied on the spinal cord when the spine is bent causing tearing of the spinal cord and any spinal nerves emerging from the spinal cord. It is associated with all types of spina bifida. The signs and symptoms of the TCS are much similar to  spina bifida occult. Most often, signs and symptoms do not appeared and are minimal. Signs and symptoms are age related so they are different depending on the age groups. Surgery is the only option for symptomatic TCS and it is mainly centered on the stabilization of the neurological functions of the affected body parts.

 

Symptoms in Babies

The symptoms in babies suffering from this condition are related to their developmental milestones. For example, their motor reflexes are delayed. The baby is not active and cannot attain the motor milestone at the usual age.  Some signs are also visible on the baby with TCS. These signs are mentioned below [1]:

  • Abnormal growth of hair on the back of the baby at lower end of the spine
  • Abnormal swelling or mass of fatty tissue on the back of baby
  • A swelling with bluish discoloration on the back of baby in midline. This type of swelling is most common in the head region, but is not dangerous.
  • A small sinus tract on the lower back of the baby in midline

Symptoms in Adults

The tethered spinal cord in adult is most often encountered due to the presence of some abnormal tissue in the spinal cord. Therefore, spinal cord is stuck to the tissue and cannot move freely. Some of the common symptoms are given below [2]:

  • Severe back pain radiating to the lower limbs and groin area
  • Abnormal length of the affected limb with the length of the other unaffected limb
  • Abnormal gait of the patient
  • Sensory loss of lower limbs
  • Numbness and muscle weakness of both limbs
  • Urinary tract system related problems
  • Neurological symptoms
  • Bowl control problems
  • Abnormal curvature and twisting of the spine (scoliosis)

Pain

Muscular pain in the back is the most common and striking symptom of the tethered cord syndrome. It radiates to the area where spinal nerves are affected, stretched or compressed. Most affected areas include lower back, groin, premium and lower limbs. Pain can be caused by several other reasons; therefore, all possible causes must be ruled out to offer proper treatment.

Abnormal Leg Length Ratio

The length of the affected limb is decreased as compared to the normal unaffected limb due to the loss of nerve supply to the muscles of the affected limb. Muscles become paralyzed and shorter in length and the leg length ratio is altered.

Gait

Gait of a person tells many things. Abnormal gait may be associated with TCS as the effected nerve supply to the muscles of leg causes them not to work properly.

Sensory Loss of Lower Limbs

Sensations over the lower limbs are affected in TCS because spinal nerves are damaged due to stretching of the spinal cord and halted nerve supply.

Numbness and Muscle Weakness of Lower Limbs

Numbness and muscle weakness of lower limbs are common complains of a person with TCS. The reason behind this complaint is the compression of spinal nerves due to the presence of abnormal fatty tissue around the spinal cord. This abnormal tissue halts the proper nerve supply to the muscles of the lower limbs causing muscle weakness and numbness, and hence reduced or defective performance.

Neurological Symptoms

Neurological symptoms are a mixture of findings; the neurons which come from the brain to the spine and the neurons which reach to the organs from the spine can be affected. In TCS, reflexes are exaggerated, muscles are flaccid and planter responses are also abnormal.

Urinary Tract System Related Symptoms

The urinary tract system is commonly affected by TCS. Usually, the patient presents with urinary incontinence or retention. According to medical sciences, the nerve supply of urinary bladder comes from the lower sacral segments of the spinal cord. In TCS, spinal nerves of this region are affected and their supply is disturbed. Common complaints associated with urinary tract system are given below:

  • Continuous dribbling of urine
  • Frequency (multiple times urge to pass urine in a day)
  • Urgency (decreased control over the bladder to store urine)
  • Nocturia (urge of urine during sleeping hours)
  • Bedwetting even after completing training to go to the toilet

All the above symptoms may also be associated with other spinal cord disorders.  So, tethered cord syndrome should be diagnosed properly.

Bowel Control Problems

Bowel movements are often found to be disturbed by TCS. Sometimes, bowel movements are decreased causing constipation and sometimes bowel movements are so exaggerated to cause fecal incontinence. Again these problems happen to occur due to damage to the spinal nerves contained in the spinal canal of the patients with TCS.

It is vital to diagnose the tethered cord syndrome in a proper and precise way as most of the symptoms of this syndrome are shared by spina bifida occulta.

For the reason of explanation, most of the symptoms of TCS are not found in all the patients. However, as the severity increases, the number of symptoms increases.

Tethered Cord Symptoms

Figure 1: This is a picture of MRI scan of spinal cord in which tethered cord is shown. A mass is compressing the spinal cord causing tethered cord syndrome (blue arrow). A red circle is made around the specified area of spinal cord where tethered cord is present. (Source: www.guide.ispneurosurgery.org)

Tethered Cord Symptoms

Figure 2: This is a picture of a sign of tethered cord syndrome. A small sinus tract is present on the lower back of the baby in the midline. This sinus has communication with the spinal canal. The red circle is made around the sinus in this picture. (Source: www. ispn.guide.com)

References

1.     Hertzler DA, DePowell JJ, Stevenson CB, Mangano FT. Tethered cord syndrome: a review of the literature from embryology to adult presentation. Neurosurg Focus. 2010 Jul; 29(1):E1.

2.     Lew SM, Kothbauer KF. Tethered cord syndrome: an updated review. Pediatr Neurosurg 2007; 43(3):236-48.

Tethered Spinal Cord in Infants (causes, symptoms, diagnosis, treatment, medication)

Introduction

The spinal cord is the collection of nerves that carries messages between the brain and the body. When a baby is born, the spinal cord is the  same size as the spinal column. The bones of the back around spinal cord are called the spinal column. With the growth of a baby, the spinal column grows longer  than the spinal cord. This is why, the spinal cord moves freely inside the spinal column. But in some children, a part of the spinal cord is “tethered” or attached to a part of the spinal column and the spinal cord can’t move freely. This is called tethered cord.

As the child grows, the spinal cord is stretched due to the tethered part. Stretched nerves may not work properly, and this causes problems for the child.

Tethered spinal cord is a neurological disorder. This condition is difficult to diagnose because of its non-specific symptoms. Normally the spinal cord moves freely in the spinal column but in this condition, the spinal cord is stuck to another structure in the spine, such as, scar tissue due to an operation, to a bony structure or even the presence of a tumor. This condition affects spinal cords growth and its functional ability. It affects people of all ages, especially infants and young children. Most often, it is associated with congenital conditions like spina bifida and chiari syndrome. Although its proper treatment can result in complete recovery,  the problem is that, most often, it is under-diagnosed or misdiagnosed.

Tethered Spinal Cord in Infants

Figure 1. Diagram (Source: wc1.smartdraw.com)

 

Causes

Following is a list of causes:

  • Spina bifida
  • Chiari syndrome
  • Split spinal cord
  • Lipoma (a benign, fatty growth)
  • Tumor
  • A spine trauma
  • Spine surgery

Symptoms

Symptoms are age-dependent.

  • Adult children can experience pain in their back, leg, weakness in the lower extremities and fatigue while walking.
  • Bladder infections, urinary or fecal incontinence or retention, as well as, urinary hesitancy and urgency can be the symptoms of this condition.
  • Babies and infants may exhibit delayed motor functions, such as, late walking.
  • Dark or red spots or lesions, hairy or soft masses can be present on the back.
  • They may show symptoms like scoliosis.
  • Differences in the size of the legs or feet, and foot deformities are also seen.
  • Patient may exhibit deterioration in gait.
  • Patient may show skin discoloration.

Patients with untreated tethered cord will continue experiencing their symptoms, and these symptoms may worsen with the passage of time. Particularly in children, untreated tethered spinal cord may lead to paraplegia due to growth of spinal cord and loss of bowel and bladder function. Paraplegia is the condition when the affected baby cannot move his/her all four limbs. Chronic pain in legs and back of children is not common and should not be taken lightly.

Diagnosis

It can be diagnosed by conducting or getting help from the following tests or investigations:

  • Spinal Magnetic resonance imaging (MRI)
  • Ultrasound
  • Computed tomography scan (CT scan)
  • Myleogram (an x-ray of the spinal canal)

Treatment

It can be treated or managed as mentioned below:

  • Most often, this condition is treated by surgery. This is done to prevent the chances of neurologic deterioration. An operating microscope is used during surgery. The tethered structure is moved away from the spinal cord. However, it is necessary to kept in mind that the tethered structure should be removed because if the structure is bony or tumor, it can cause re-tethering of the spinal cord. Mostly, patients regain normal functioning ability after surgery.
  • Physical therapy may also help with managing the physical problems of a tethered spinal cord.

Medication

Tethered spinal cord is not treated with medication. However, for some children, pain due to this condition can be managed with one or more of the following types of medication:

  • Analgesics (painkillers): these drugs relieve pain.
  • Muscle relaxants: these drugs prevent painful spasms of muscles by suppressing the contractions. Also, medications may be helpful for bladder incontinence.

Tethered Spinal Cord in Infants

Figure 2. Differences Diagram

 

Surgery

Surgery is generally performed only if there are clinical signs of deterioration. Studies reveal that surgical release of tethered cord in infants improve neurological, bowel and urological functions [1]. The surgery begins by opening the skin over the tethered area.  The myelomeningocele or bony vertebrae are removed to get better exposure of the spinal cord. The covering is then opened, and the spinal cord or other abnormalities are dissected away. Once the tethered structure is separated from all of its attachments, the coverings on the  back are closed.

The patient can show normal functioning ability within a few weeks. Recovery depends upon the degree of preoperative clinical deterioration. Following are complications that may happen to occur after surgery:

  • Infection
  • Bleeding
  • Decreased muscle strength or bladder or bowel function due to damage to the spinal cord or myelomeningocele

Many children require only one surgery. Usually, children improve or at least stabilize their level of functioning. However, there is a chance for the spinal cord to re-tether as the child gets older and for this reason it is important that they should be carefully monitored as re-tethering may occur during the growth period. Ten to 20 percent of the patients with this disability require more than one surgery.

Tethered Spinal Cord in Infants

Figure 3. Surgery images for tethered spinal cord (Source: www.pediatricneurosurgery.org)

 

Positive and negative aspects of Surgery

The good news is that tethered cord is a treatable condition, especially when diagnosed early in the child’s life. Surgery is the only treatment for this condition. Although surgery might not restore the functioning ability of damaged and deteriorated nerves it can stop further damage. Children may have normal life after treatment.

Spinal nerves are not for just one function. They receive messages from the body and send them to brain. So, the damage to the spinal cord may affect many other functions in the body.

Key points

  • Tethered cord means that the spinal cord cannot move freely inside the spinal column. The spinal cord is stretched.
  • This condition can cause problems with bladder control, bowel control, or walking.
  • This may be treated only with surgery.

References

1.     Bowman RM, Mohan A, Ito J, Seibly JM, McLone DG. Tethered cord release: a long-term study in 114 patients. J Neurosurg Pediatr. 2009;3(3):181-7.

2.     Mishra SS, Panigrahi S, Dhir MK, Parida DK. Tethered cord syndrome in adolescents: Report of two cases and review of literature. J Pediatr Neurosci. 2013 Jan-Apr; 8(1): 55–58.

Tethered Spinal Cord Surgery (procedure, medication, problems)

In a tethered spinal cord, the spinal cord is attached in the spinal canal and is unable to move freely in the spinal canal. A lot of causes are behind the tethered spinal cord. Several treatment options are available to treat this. Surgery is one of the options to manage it.

First of all, the patient must be  diagnosed properly to decide if surgery is the right decision.  The cause of the tethered cord syndrome (TCS) is evaluated because surgery is performed according to the cause of TCS. Surgery is more beneficial in early stages of life because damage of spinal nerves due to TCS is usually less in early stages of life. As the disease progresses the damage of spinal nerves increases. If left untreated, permanent or irreversible damage occurs. When damage is irreversible then there is no benefit of surgery as surgical intervention also has  complications.

First of all, the patient is prepared for surgery. During preparation, all baseline investigations are performed to identify any problem related to other systems. Checking of vitals depends upon the age of the patient. If the age of a patient is less than 13 years, pulse rate and respiratory are more important according to the anesthesia point of view while blood pressure is important in the patients with an age greater than 13. The respiratory system and central venous system is assessed thoroughly. General anesthesia (GA) is best for tethered spinal cord surgery. Anesthesia is designed to make the patient pain free. In GA, whole body is made pain free.

After assessing the patient and declaring him/her fit for anesthesia, the patient is brought to the operation theatre (OT). In OT, the patient is laid on the OT table. The injection of anesthesia is given through IV cannula to make the patient unconscious  with the effect of anesthetic injection. An endotracheal tube (ETT) is passed into the trachea (the tube which connects mouth to the lungs and helps in respiration) quickly. An oxygen mask is attached to the ETT for the artificial supply of oxygen to lungs. After doing all of this the  main surgery is started.

The patient’s position is changed from supine to prone because the spinal cord is approached through back. The affected area is exposed and antiseptic measures are performed on the exposed area.

To approach the spinal cord, laminactomy is performed first. Laminactomy refers to “a small piece of bone removed from the vertebra”. To do laminactomy, an incision is made in the skin.  The muscles and tissues under the skin are separated. Vertebra is exposed. A small piece of bone is removed from the vertebra. After removal of the bone the  spinal canal is approached.

When an approach is made to the spinal canal, the surgeon must identify the spinal cord and spinal nerves.  After identification of the location of tethered cord, the cause of TCS is identified. If any fatty tissue or mass is present, it is removed first. Any other cause is also managed accordingly. Now the  attached spinal cord is just in the range of the surgeon’s vision.

The main steps of surgery start now. The spinal cord and spinal nerves are checked. As the spinal cord and nerves are very thin and small a microscope is used to identify them. A neuro-physician is present  to check the motor and sensory nerve supply of lower limbs. Any deterioration in the function of spinal nerves is checked and conveyed to the operating surgeon. The spinal cord is separated from the spinal canal. Spinal nerves are also separated from each other and adjusted at their places. If any split or tear is present on the spinal cord or nerve, it is also repaired by stitching. After doing this, the spinal canal is closed by placing a patch on the protective covering of spinal cord. The patch is stitched with the covering. The patch is placed to avoid leakage of cerebrospinal fluid (CSF) through the operated site. Up till now, the main part of this surgery is completed. Bleeding is secured by diathermy, stitching or applying pressure on the bleeding vessels. The muscles and tissues underlying the skin are approximated. The skin is stitched with fine sutures to minimize the scar mark. Antiseptic measures are applied on to the operated site and the dressing is placed on it.

After completing all this, the patient is assessed from the  anesthesia point of view. An injection is given through IV cannula to minimize the effect of anesthesia drugs. When the patient starts to respond to a painful stimulus, ETT is removed and the patient is allowed to do spontaneous breathing. The oxygen mask is placed on the mouth to maintain the oxygen saturation until the patient starts spontaneous breathing. Again a painful stimulus is applied to check the response of the patient. When the patient is responding well and doing spontaneous breathing, he/she is considered  out of anesthesia. Now the  patient can be shifted to recovery room.

Tethered Spinal Cord Surgery

Figure 1: In this picture the spinal cord is shown. Duramater (the protective covering of spinal cord) is opened to approach the spinal cord. The location where the  tethered cord is present is identified and detethered by placing a stitch behind the spinal cord. The red circle is made around the area where spinal cord is exposed by retracting the duramater (Source: www.ispn.guide.com).

Tethered Spinal Cord Surgery

Figure 2: This is a schematic diagram of the back of the patient near the lumbosacral region. This diagram shows how the approach is made through the skin to the spinal canal. A red circle is made around the incision that is made on the skin to approach the spinal canal to perform detethering of the tethered spinal cord (Source: www.ispn.guide).

Tethered Spinal Cord Surgery

Figure 3: This is the picture of a patient to whom tethered spinal cord surgery was performed. A red circle is made on the scar mark that is made on the back of patient after the healing of wound that was made on the skin in lumbosacral region to approach spinal canal (Source: www.pinterest.com)

References

1.     Falci SPLammertse DPBest LStarnes CAPrenger ECStavros AT, et al. Surgical treatment of posttraumatic cystic and tethered spinal cords. J Spinal Cord Med 1999;22(3):173-81.

2.     Hüttmann SKrauss JCollmann HSörensen NRoosen K. Surgical management of tethered spinal cord in adults: report of 54 cases. J Neurosurg 2001;95(2 Suppl):173-8.

Treatment for Spina Bifida (screening, post birth, problems)

Spina bifida is a congenital disease that occurs due to the defective closure of bony component of vertebra during the intrauterine life. This disease may cause several complications in the patient. There is no cure of this disease but there are different treatment options available to help the management of the disease and decrease the complications.

Treatment before birth

Screening tests are performed in those mothers who are at the risk of having a baby with spina bifida. If spina bifida is diagnosed during the intra uterine life, there is an option to correct and treat the baby in the uterus during pregnancy to decrease the complications which develop due to defective spinal closure. The surgery is performed by the fetal surgeon. The risk assessment of mother and fetus is checked before performing the surgery. In this surgery, the defect is repaired and spinal cord is placed at its proper position.

Treatment after birth

There are several treatment options available for SB after the birth of the baby. It includes surgery, medical therapy, physical and behavior therapy. Treatment depends upon many factors such as given below:

  • Type of the spina bifida
  • Severity of the disease
  • Age of the patient
  • Health of the patient
  • Personal preference

Treatment of spina bifida occulta

Spina bifida occulta is the mildest type of spina bifida. Sometimes, no treatment is required as the patient does not develop any complaint or any complications. If a patient develops any complication, it is treated accordingly.

Treatment of meningocele

Meningecele is a type of SB which presents with a sac on the back of patient. In this type, spinal cord or spinal nerves are not entrapped in the sac. There are two options to treat his type of the defect. These are following below:

  • Removal of sac [1]
  • Treatment of the complications developed due to this defect

The sac is removed by a surgical procedure. Sometimes no complications develop due to meningocele. Removal of the sac is a kind of cosmetic surgery. If the size of sac is small, no surgery is performed. It is checked by an ultrasound to ensure that there is no spinal cord segment or spinal nerve, and then it is deflated by a syringe. The complications that are developed due to this defect include bladder problems, hydrocephalus or too much fluid in the brain.

Treatment for Spina Bifida

 

Figure 1: Surgery for SB (Source: www.aboutspinabifida.blogspot.com)

Excessive fluid from the brain should be drained to decrease pressure on the brain tissue. In this surgery, a drain that is called shunt is placed under the skin from brain to the abdomen. By this shunt, excessive fluid is drained smoothly into the body fluid without causing any problem. Multiple surgeries are performed to adjust the function of drain. As the child grows, the position of the drain is changed. Again, surgery is performed to adjust the drain. It is done many times to prevent the development of hydrocephalus. If these complications are not treated, a patient may develop mental retardation or movement disorders. Some patients may develop paralysis of limbs and be unable to walk.

Treatment of myelomeningocele

Myelomenigocele is the worst type of spina bifida. In this type of SB, the spinal cord segment or spinal nerves protrude out through the defect of bony components of vertebra along with the protective coverings (meninges). It is a very complicated form of spina bifida and is associated with many complications.

The patients with myelomeningocele are prone to infection. So antibiotics are given to these patients to prevent infection.

Hydrocephalus develops in these patients. It should be corrected to prevent mental retardation or movement disorders. A shunt is placed to drain the excessive fluid in the brain [2].

Treatment for Spina Bifida

Figure 2: A child with shunt (Source: www.auniquelybeautifullife.weebly.com)

A very severe complication of this form of spina bifida is the progressive tethering of the spinal cord in which the spinal cord and vertebrae are not stretched and fail to grown properly as the child grows. Normally, the spinal cord is freely floating in the spinal cord. In tethered spinal cord, the spinal cord is attached to the spinal canal. Due to this attachment, compression is applied on the spinal nerves when spinal cord is stretched. This compression causes damage to the spinal nerves. When spinal nerves are damaged, the muscular function of bowel, bladder and legs are disturbed.

When the urinary bladder function is lost the patient is unable to void. Urinary retention develops and causes lower abdominal pain. An urologist is consulted for this problem. An urologist advises catheterization to drain the urine. In catheterization, a Foley’s catheter is passed in the urinary bladder through the urethra to drain urine. Repeated catheterization is a source of infection. Antibiotic cover is given along with catheterization.

Surgery is performed on the spinal cord to help restore the function of spinal nerves. Although surgery on spinal cord does not completely restore the function of spinal cord nerves, but it is helpful to improve the function and enhance the quality of life.

If SB involves the higher segments of the spinal cord, it is more dangerous and a patient is at a high risk of developing paralysis of lower limbs. Wheelchairs are used to help the patient in movement. If it involves the lower segments of the spinal cord then patient can walk independently or with the help of crutches.

Mobility and physical activity is helpful for the people who have developed movement disorders due to SB. Physical activity on a daily basis is recommended for every person but it is especially important for those people who are suffering from the movement disorders due to spina bifida.

Physiotherapy is very helpful for such patients. Physiotherapy enhances the activity of muscles. Physical activity is helpful to restore the function of paralyzed muscles. To enhance the physical activity, a patient is trained by a trained person. So that patient is able to do physical activity according to the need of the person.

References

  1. Tuzun Y, Izci Y, Polat KY. Anterior sacral meningocele: excision by the abdominal approach. Pediatr Neurosurg 2005;41(5):244-7.
  2. Warf B, Ondoma S, Kulkarni A, Donnelly R, Ampeire M, Akona J, et al. Neurocognitive outcome and ventricular volume in children with myelomeningocele treated for hydrocephalus in Uganda. J Neurosurg Padiatr 2009;4(6):564-70.

Stem Cell Treatment for Spina Bifida

Introduction

Spina bifida is one of the most common birth defects worldwide. This is a defect in the  closure of the vertebral column that may or may not involve the spinal cord or meninges (covering layers of central nervous system) or both  being out-pouched. SB is called a  neural tube defect (NTD).

Types of SB

There are three types of SB,

  • Spina bifida occulta (surface area of some of the vertebrae is not completely closed).
  • Spina bifida cystica with meningocele (meninges are pushed into the gaps of vertebrae).
  • Spina bifida cystica with myelomeningocele (meninges and spinal cord protrude through the opening).

Treatment

SB’s complications are managed according to the problem. In hydrocephalus ( where CSF accumulates in the cavities of the brain) a shunt is used to drain off the surplus fluid. When the problem is related to elimination functions catheterization and vesicostomy are employed where one cannot pass urine due to bladder dysfunction.

The protruded part of the meninges and spinal cord out of the  body is treated with two types of surgery. One is pre-natal surgery and the second is post-natal surgery. But there is still no treatment for the damaged part of the central nervous system. Studies and researches are being done to discover how to repair the damaged part of central nervous system. One of them is stem cell treatment.

Introduction of stem cell treatment

Treatment by stem cells is a new way of treating the neural tube diseases. Stem cells are undifferentiated pluripotent cells which are known to be a type of  cells that have tendency to differentiate into any type of cells. These cells are present in the fetus and differentiate into cells for all of the organ systems.  Thus they  differentiate into heart cells, brain cells, muscle cells ,  bone cells and so forth . Because of their characteristics, stem cells, are  being used to repair damaged parts of the body.  In SB, a part of spinal cord is protruded and damaged. This damage causes many complications, such as disability, bladder and cognitive problems as the cells of central nervous system don’t have dividing ability. Damaged cells of the spinal cord in spina bifida do not repair themselves. But, the stem cells have the ability to divide and to differentiate into cells of the spinal cord. When stem cells are introduced in a damaged area, they can repair cells of that area. So, complications due to damaged cells can be minimized.

Stem Cell Treatment for Spina Bifida

Stem cells (Source: www.1001.nccdn.net)

Source of stem cell

Figure 1. Stem cells can be extracted from pre-natal as well as post-natal patients. In pre-natal patients, embryonic cells, amniotic mesenchymal stem cells and umbilical cord blood are collected for their stem cells [1]. In post-natal patients, stem cells can be collected from bone marrow and fat cells. In stem cell treatment, stem cells are collected from the patient to minimize the immunity response against these cells.

Stem Cell Treatment for Spina Bifida

Figure 2. Multipotent stem cells (Source: www.1001.nccdn.net)

Spina Bifida Stem cell treatment methods

Two methods of stem cell treatment are being used these days.

  • One method of stem cell treatment is that stem cells are introduced during pregnancy. Pre-natal surgery can minimize the damage to the spinal cord. These results can be obtained when surgery is performed before 20-25 weeks of pregnancy. Pre-natal surgery during this period can abort pregnancy. Pre-natal surgery after that period is useless because damage to the spinal cord is prominent at this stage. Pre-natal stem cell treatment is performed 10-12 weeks before the pre-natal surgery period. Stem cells are introduced into the womb.
  • Another method of stem cell treatment is performed after the delivery. In this method, stem cells are introduced by three ways: 1) by intravenous injection, in this condition stem cells must cross the blood-brain barrier to reach the central nervous system, 2) by intrathecally by a lumbar puncture. The blood-brain barrier is not as closed in younger patients compared to older ones.

Figure 3 below gives the  promotion for a stem cell treatment programme in China designed for adults.

Stem Cell Treatment for Spina Bifida

Figure 3. Beike Biotechnology stem cell treatment strategy in China

(Source: www.stemcelltreatmentnow.com)

Benefits of stem cell treatment for spina bifida

To date the result of stem cell therapy for spina bifida is extremely encouraging. Stem cell treatment is a new way of treating diseases. Many serious diseases can now be treated by stem cells. Spinal cord injury is treated well with stem cell treatment. Spina bifida treatment by stem cells is performed at many medical centers. But, this is still at the research level.  Stem cell treatments do create many improvements in sensation and muscle supplies of bowel/bladder and legs as well as in cognitive and intellectual performance. Stem cell treatment is also being performed for bowel or bladder incontinence, commonly associated with SB.

Side effects

Stem cell treatment is still in the trail stage. At some centers, it is still performed in animals so that we may know the long term side effects this newly developing technique [3]. There is a fear that it can cause a brain tumor. Stem cells are pluripotent so these cells can differentiate to any type of cell or tissue. Sometimes, they differentiate to other type of cells instead of repairing damaged neurons. Sometimes stem cells can cause urinary infection and other urinary complications when intestinal stem cells are used in connection with bladder or bowel incontinence.

Caution

Stem cell treatment is still in the trail and experimental stage.  So a 100% result is not assured.  So, the patient may face some long term side effects. There is often much improvement, but results are not predictable with stem cell treatment. This is an experimental and expensive method of treatment.

Hospitals with stem cell treatment facilities

  • Nova Cells Institute Mexico: Phone: (1-562-916-3410), E-mail: NCinfodesk@gmail.com
  • Regenerative Medicine Institute in Mexico phone: (1.866.668.9263)(1.619.621.2800).
  • Beike Biotechnology, Better Being Hospital: Address: East Block, 2nd Floor, Yuanxing Technology Building, #1 Songpingshan Road, Nanshan District, Shenzhen, Guangdong, China 518057.

References

1.     Turner CG, Klein JD, Wang J, Thakor D, Benedict D, Ahmed A, et al. The amniotic fluid as a source of neural stem cells in the setting of experimental neural tube defects. Stem Cell Dev 2013;15;22(4):548-53.

2.     Li H., Gao F, Ma L, Jiang J, Miao J, jiang M, et al. Therapeutic potential of in utero mesenchymal stem cell (MSCs) transplantation in rat foetuses with SB aperta. J Cell Mol Med 2012;16(7):1606-17.

3.     Baker KS, Bresters D, Sande JE. The burden of cure: long-term side effects following hematopoietic stem cell transplantation (HSCT) in children. Pediatr Clin North Am 2010;57(1):323-42.

 

 

 

Causes of Neural Tube Defects

Neural tube defects are congenital anomalies that develop in babies while they are in mother’s womb. The exact causes of these defects are not yet known, but some risk factors are thought to be the cause of such defects in fetuses. These risk factors are mentioned below:

  • Folic acid insufficiency
  • Maternal diabetes
  • Obesity
  • Family history
  • Teratogenic medications
  • High heat exposure
  • Gene mutation

Folic acid insufficiency

Folic acid is a vitamin that helps the proper growth of the baby during their life in the mother’s uterus. It is also called vitamin B9. Deficiency of this vitamin during pregnancy increases the chance of neural tube defect in the fetus [1]. What is the mechanism for development of a neural tube defect in the baby of a pregnant lady suffering from deficiency of folic acid? The answer of this question is not properly known. Some information  indicates that  folic acid is helpful in the formation and processing of bony components of vertebra. So, it is necessary to take folic acid before  pregnancy  and during pregnancy in order to save your baby from neural tube defect. Folic acid is present in many foods available naturally, such as, broccoli, some peas and brown rice. Folic acid is also available in the market in the form of tablets. It is estimated  that taking folic acid before conception and during the antenatal period of pregnancy saves seven out of ten cases from  neural tube defects like spina bifida.

Neutral Tube Defects Causes
Figure 1: Prenatal vitamins and Folic acid (Source: www.popsugar.com)

Maternal diabetes mellitus

Maternal diabetes is a risk factor for the baby to develop spina bifida [2]. Gestational diabetes has no effect on  development. Only maternal diabetes is risky for the baby. A high level of glucose in the blood of the mother crosses the placenta and goes to the blood of the fetus  where it decreases the level of folic acid by interacting with  folic acid metabolism. Decreased levels of folic acid is a warning  sign for the development of spina bifida in the fetus. It is very important to control the sugar level of mother  to save baby from developing neural tube defects. For this purpose, insulin is used during pregnancy as it is the drug of choice for high blood sugar levels during pregnancy. It does not produce harmful effects on the baby as it cannot cross the placenta. Other oral hypoglycemic agents are not used during pregnancy because they are dangerous for the baby as they cross the placenta.

Neutral Tube Defects CausesFigure 2: Diabetes is a risk factor for SB (Source: www.anapolschwartz.com)

Obesity

Obesity is a major risk factor for the development of neural tube defects like spina bifida in the fetus [3]. Obesity means the body mass index (BMI) is 30 or more than 30. The mother who is obese  with a BMI more than 40 has three times greater risk of  having  a baby with spina bifida as compared to a  mother whose BMI is 30. How obesity causes neural tube defects is not known but it is important to decrease your BMI  to the normal range to save your baby from the risk of developing neural tube defects. To bring BMI to its normal range, daily exercise is recommended. Further,  diet control is an important factor for the control of BMI.

Family History

A positive family history is an important indicator  for the development of neural tube defects. If a person is present in your family with spina bifida, then the chance of having a baby with spina bifida is increased as compared to the mother who has no positive family history. A mother who delivered a baby with spina bifida has a greater chance to deliver her  next baby with spina bifida as compared to that mother who had normal babies.

Neural tube defects caused by  medications

Some drugs are associated with neural tube defects when used during pregnancy. These drugs are given below:

  • Valproic acid
  • Carbamazepine
  • Lamotrigine

These are anti epileptic drugs that are used to treat the fits of epileptic patients. The percentage of cases treated  with valproic acid is about 1 to 2 percent and the percentage with carbamazepine and lamotrigine is not known exactly. It is recommended that those patients who are taking these drugs should also take contraceptive pills to avoid pregnancy. These drugs interact with the metabolism of folic acid and this causes insufficiency of folic acid in the body. Decreased folic acid level is risk for the development of spina bifida in the fetus. It is advised that a woman  should consult her doctor for  alternative medicines if she wants to be pregnant. Folic acid supplements should also be added in the diet so that deficiency of folic acid does  not occur in the patient due to antiepileptic agents. A woman  should not stop these medicines without the consultation of doctor.

High heat exposure

High heat exposure during pregnancy is also a cause of the development of neural tube defect in the baby [4]. High heat exposure occurs  while a patient suffers from fever or takes a hot water bath. The mechanism behind  high heat exposure causing spina bifida in the baby is not well recognized. What little is known about it is that it enhances the metabolism of body. Folic acid is used up during this increased metabolism causing the insufficiency of folic acid for the development of the fetus thus increasing the risk of development of spina bifida in the fetus. It is advised to take anti-pyretic agents during pregnancy to avoid  heat exposure. Hot water baths should be avoided during pregnancy.

Gene mutation

Gene mutation is also a cause of development of spina bifida in the baby. Many genes are involved in the development of spina bifida and some can be  altered. MTHFR is a gene that is altered causing neural tube defect in the baby. This gene is helpful in the processing of folic acid metabolism. Alteration of this gene causes folic acid deficiency and thus increases the risk of development of spina bifida in the baby.

References

1.     Czeizel AE, Dudas I, Vereczkey A, Banhidy F. Folate Deficiency and Folic Acid Supplementation: The Prevention of Neural-Tube Defects and Congenital Heart Defects. Nutrients 2013;5(11):4760-75.

2.     Anderson JL, Waller DK, Canfield MA, Shaw GM, Watkins ML, Werler MM. Maternal obesity, gestational diabetes, and central nervous system birth defects. Epidemiology 2005;16(1):87-92.

3.     Watkins ML, Scanlon KS, Mulinare J, Khoury MJ. Is maternal obesity a risk factor for anencephaly and spina bifida? Epidemiology 1996;7(5):507-12.

4.     Buckiová D, Kubínová L, Soukup A, Jelínek R, Brown NA. Hyperthermia in the chick embryo: HSP and possible mechanisms of developmental defects. Int J Dev Biol 1998;42(5):737-40.