Caudal regression syndrome includes malformations ranging from the absence of coccyx to the absence of lumbar vertebra and sometimes can be together with neurologic, urogenital, gastrointestinal and orthopedic anomalies
5,6. The clinical symptom spectrums of the patients generally originate from the level of the vertebra defects
7. In the etiology, maternal diabetes, usage of minoxidil or retinoic acid during the pregnancy and genetic predisposition are the factors that are blamed
2,8. In our case, there was no history of maternal diabetes.
Congenital anomalies of neural tube structures developed from caudal canal during embryological period such as caudal vertebra and urogenital system and lower extremities constitute the caudal regression syndrome9. Caudal regression syndrome can be divided into two groups10. In Group 1, spinal cord ends abruptly at above the first lumbar vertebra level and symptoms occur due to tethered filum terminale, usually caused by adhesions in the lower lumbar region and a lipoma may accompany. In Group 2, the conus ends below the normal level and a thick filum terminale and/or lipoma can accompany. While neurologic symptoms are heavier in Group 2, sacral deformities are more serious in Group 1. In our case conus was above at T-12 level and filum terminale was tethered due to adherence to L5 vertebra. Because of the concomitant embryological development of lower vertebra, colon and urinary system, we think that developmental defects of the kidneys, neurogenic bladder and constipation problems in our case are due to adhesions caused by tethered filum terminale. Our case was in concordance with the Group 1 caudal regression syndrome. Urinary and fecal incontinence were present and sacral deformity was at a severe level. In caudal regression system, besides the sacral agenesis level, tethered and adherent cord should be investigated and genitourinary system, musculoskeletal system and neurological system should be examined carefully1,5,9. The clinical symptoms of pes equinovarus, contractures of hip and knee and congenital hip dislocation which cause orthopedic problems, symptoms of renal agenesia, hydronephrosis, hypospadias which cause urogenital problems, symptoms of hydrocephaly, meningomyelocele, tethered spinal cord and diastematomyelia which cause neurological problems should be examined carefully9,11. Especially in cases with tethered filum terminale caused by adhesions, as in our case, surgical treatment should be considered in no time. Parents must be informed that the patient will benefit from the surgery. In cases with neurogenic bladder and are diagnosed at a later stage, morbidities such as; hydronephrosis, vesicoureteral reflux and recurrent urinary system infection in an irreversible stage were reported1. We also detected partial sacral agenesis, tethered filum terminale and related neurogenic bladder that form the basis of recurrent urinary system infection and constipation, which was resistant to the treatment. The family was informed about the urgency of the surgical treatment of the tethered filum terminale and the patient was transferred to a higher-level of care hospital. The patient was given prophylactic antibiotic treatment for the recurrent urinary system infection and regular disimpaction for the constipation.
For radiologic diagnosis, ultrasonography is the first option for infants. Other investigations that help to establish a diagnosis are computed tomography and magnetic resonance imaging5. In sacral agenesis, the defects in the bones can be seen in the direct X-ray imaging. Detailed investigation in 3-D can be made via the images taken with computed tomography. The diffusion-weighted MRI is the golden standard to affirm the findings of the ultrasonography and to find additional anomalies. The images of the sagittal plane are important and especially the deficiencies in the lumbosacral vertebral structures, distal spinal cord and cord tension are evaluated. On the axial plane, spinal canal stenosis, diastematomyelia, the existence of hydromyelia and other related lesions are evaluated9. We made the sacral agenesis diagnosis of our case with the help of direct x-ray graphy and diffusion-weighted MRI and detected that the conus was ended at T12 level, and filum terminale was tethered due to the adherence to L5 vertebra. We did not detect any additional pathology in the spinal cord at cervical and thoracic diffusion-weighted MRI.
The cases of sacral agenesis together with the other systematic problems create economic and social problems in the society. The detection of the cases with sacral agenesis during the pregnancy is possible at the 18th-22nd week by the ultrasonography of the mothers, especially diabetics, via the detection of the early ending of medulla spinalis in the spine and frog leg posture of the lower extremities of fetus11. It is proper to end the pregnancy through talking to the family during the prenatal followups. In the cases that are given birth to, there should also be cooperation with the family and by giving detailed information the patient should be evaluated in a multidisciplinary way, which orthopedists, neurosurgery specialists, urologists, physiatrists and pediatric surgery specialists attend. In the presence of tethered filum terminale due to adhesions, patient must be evaluated considering the aspects of clinical and radiological dynamics and surgical treatment should be offered to patients.
Sacral agenesis should be considered in the babies of whom sacral dimple, gluteal line abnormality and gluteal flattening, recurrent urinary system infection and constipation are detected in the physical examination during neonatal period and surgical treatment should be offered to these patients. The severity of the pathology should be examined via spinal diffusion-weighted MRI, VCUG, antenatal and postnatal ultrasonography, urodynamic tests. We think that both with early surgical treatment of tethered filum terminale and associated anomalies by the related clinical branches and with the help of rehabilitation, quality of life can be increased significantly.
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