What Is a Caudal Regression Syndrome?
Caudal regression syndrome is a congenital (inborn) anomaly. The other names of this condition are caudal dysplasia and sacral syndrome. It impacts the normal development of the lower (caudal) half of the body of the child in the womb. This condition can affect the following areas in the newborn’s body-
-
Lower back.
-
Legs.
-
Gastrointestinal tract.
-
Genitals.
-
Urinary tract.
They may have intestinal twisting, anal blocking, and other digestive system irregularities. Infants affected with this condition may have trouble walking, peeing, and pooping. The caudal regression syndrome has a frequency estimation of about one to two newborns for every 100,000 newborns worldwide. However, it is much more common in infants of diabetic mothers, with the frequency being 1 in 350 newborns.
What Are the Symptoms of Caudal Regression Syndrome?
The symptoms of caudal regression syndrome may range from mild to severe. Depending on how severe the condition is, the child may have a few to several of the symptoms.
1) Skeletal System Symptoms-
Skeletal system symptoms include the effect of caudal regression syndrome on the normal development of the child’s bones.
-
An absence or abnormality in the shape of the bones of the spinal cord, particularly the lower spine (vertebrae).
-
Formation of a fluid-filled sac in the areas with incomplete closure of the spine (vertebrae) around the spinal cord.
-
The curvature of the spine (scoliosis).
-
Small hip bones.
-
Irregularly shaped chest that causes breathing problems.
-
Underdeveloped muscles of the buttocks (hypoplastic gluteal muscles).
-
Indentation on the lower back like a dimple (sacral dimple).
-
Minimal or loss of sensation in the body’s lower half.
Infants affected by caudal regression syndrome have underdeveloped bones, which leads to irregular stances or ways of walking. This includes-
-
Frog-leg Position- Legs bent with the knees pointing outwards and the feet in line with the hips.
-
Clubfeet- Feet turn inwards.
-
Calcaneovalgus- Feet turn outward and upward.
2) Organ-Related Symptoms
The caudal regression syndrome can have an effect on the development and functioning of the child’s digestive system, renal system, and urinary tract. The symptoms may include-
-
Renal Agenesis- Absence of one kidney.
-
Renal Ectopia- Kidneys not located in their normal position.
-
Fused Ureters- Fusion of the tubes that take urine from the kidney to the bladder.
-
Ureteral Duplication- More than the required number of tubes take urine from the kidney to the bladder.
-
Vesicoureteral Reflux- Abnormal backflow of urine from the urinary bladder into the ureters.
-
Bladder Exstrophy- The bladder comes out of the opening in the abdominal wall.
-
Neurogenic Bladder- Bladder nerves are unable to send the signal to the brain for the normal functioning of the bladder.
-
Frequent Urinary Tract Infections (UTIs)- Infection in any part of the urinary system.
-
Imperforate Anus- Blocked anal opening.
-
Bladder and Bowel Incontinence- Lack of bowel and bladder control.
-
Constipation.
The caudal regression syndrome can also have an effect on the reproductive system of the child. The symptoms may include-
-
Hypospadias- Opening of the urethra on the underside of the penis.
-
Cryptorchidism- One or both testes do not descend into the expected place in the scrotum.
-
Rectovaginal Fistula- Connection between the rectum and the vagina, leading to bowel contents leaking and passing through the vagina.
-
Genital Agenesis- Partial or no development of the reproductive organs.
A few other symptoms in the other internal organs of the body include-
-
Abnormal twisting (malrotation) of the large intestine.
-
Bulge or soft-outpouching in the groin or lower abdomen (inguinal hernia).
-
Congenital (by birth) heart conditions.
What Causes Caudal Regression Syndrome?
The exact cause of this syndrome is unknown. However, it is believed by researchers that environmental factors and genetics may have a role to play in the development of caudal regression syndrome. Most cases seem to occur sporadically (occasionally at irregular intervals) for no apparent cause, suggesting environmental factors or a new gene mutation. Caudal regression syndrome is likely to be multifactorial, meaning several factors may play a causative role. Also, different genetic disorders may be causing this disease in different people (genetic heterogeneity).
-
The subsequent risk factor is identified to be maternal diabetes or diabetes of the mother. This syndrome seems to occur more frequently in women with diabetes than in the normal population. Approximately 16 percent of children affected with caudal regression syndrome belonged to a diabetic mother. However, the exact reason for the link between diabetes and caudal regression syndrome is unknown.
-
The numerous different potential environmental factors that have been suggested in the development of caudal regression syndrome include-
-
Alcohol.
-
Retinoic acid.
-
Lack of oxygen (hypoxia).
-
Amino acid imbalances.
-
Some children may be genetically predisposed to develop caudal regression syndrome. This means that the person may carry a gene for the disorder, but it may not express until and unless triggered or activated by certain circumstances, such as some environmental factors.
-
In some cases, mutations (alterations) in the VANGL1 gene may be associated with caudal regression syndrome. The defective gene can be inherited from either parent, or it can result from new mutations in the affected individual.
-
The mesoderm, the middle layer of tissue of the developing embryo, is responsible for the formation of the bones and organs of the fetus. The genetic mutation affects mesoderm development around the 28th day of pregnancy.
-
The presence of an abnormal artery in the abdomen may result in the development of caudal regression syndrome. This artery may divert the blood flow away from the fetus's lower areas, resulting in decreased blood flow in these areas, thereby causing signs and symptoms of caudal regression syndrome.
How Is Caudal Regression Syndrome Diagnosed?
The diagnosis of caudal regression syndrome is often made before birth using fetal ultrasound. Fetal ultrasound helps to detect the abnormalities affecting the lower half of the body. Electrocardiography (ECG) can also be performed to detect the extent of heart involvement. Magnetic resonance imaging (MRI) may be used to detect spinal defects and other organ abnormalities.
How Is Caudal Regression Syndrome Treated?
The treatment is symptomatic and unique to each affected child and could include-
-
Surgery to repair the symptoms affecting the bones of the child.
-
Surgery to improve the functioning of the genitals, bowel, and urinary tract.
-
Medications such as Anticholinergics for urological abnormalities.
-
Prosthetics or assisted mobility devices to help the child walk and move.
The treatment of caudal regression syndrome involves coordinated efforts of several healthcare specialists, such as
-
Pediatricians (child health specialists).
-
Cardiologists (heart specialists).
-
Neurologists, neurosurgeons (brain, spinal cord, and nerves specialists).
-
Urologists (urinary tract specialists).
-
Orthopedists, orthopedist surgeons (bone specialists).
-
Nephrologists (kidney specialists).
They systematically and comprehensively plan effective treatment.
Conclusion:
The child's diagnosis of caudal regression syndrome can be challenging and overwhelming. The symptoms may include trouble walking and using the bathroom. The treatment of this syndrome involves the role of various specialists performing multiple surgeries to repair the normal functioning of the child’s organs. Adapting to these changes may be difficult for the child and their families. Joining a support group or talking to mental health professionals may prove to be helpful.