Caudal Regression Syndrome: A Case Series of a Rare Congenital Anomaly

Abstract

SummaryBackgroundCaudal regression syndrome is a rare, neural tube defect characterized by an abnormal development of the caudal aspect of the vertebral column and the spinal cord., It results in neurological deficits ranging from bladder and bowel involvement to severe sensory and motor deficits in the lower limbs. Maternal diabetes, genetic factors and some teratogens have been shown to be associated with its pathogenesis. Caudal regression syndrome is usually diagnosed initially by antenatal ultrasound with more definitive diagnosis made by antenatal or postnatal MRI. In this case series, we report four cases of caudal regression syndrome in different age groups including prenatal, infant and adult.Case ReportWe are presenting multimodal imaging findings of 4 cases of caudal regression syndrome in 4 different age groups including fetus, infant, early childhood and adult. The pathogenesis, associated risk factors, complications, treatment options and prognosis of caudal regression syndrome are discussed as well.ConclusionsCaudal regression syndrome is a rare entity, characterized by sacrococcygeal dysgenesis with an abrupt termination of a blunt-ending spinal cord. Ultrasound and fetal MRI can be used to make a prenatal diagnosis, while MRI is the imaging modality of choice in adults. Early detection and prompt treatment is very important to decrease the risk of complications, and thus, to improve the prognosis.

Fusion of lower limbs with severe urogenital malformation in a newborn, a rare congenital clinical syndrome: case report

“… 4 , 5 , 7 – 9 Uncontrolled maternal diabetes, especially in early first trimester of pregnancy, which has been linked with sacral agenesis, limb malformations and other anomalies in the fetus, has been described as an important risk factor for caudal malformations in general. 3 , 9 , 10 However, since only ~0.5%–3.7% of sirenomelia cases have been reported in diabetic mothers, 7 the etiological association between maternal diabetes and sirenomelia has been described as weak. 7 Our patient was not diabetic.…”

“… 10 Although the features of sacral agenesis and caudal regression syndrome may be similar to those reported in sirenomelia and the former may be considered in the differential diagnosis of sirenome-lia, there is no agreement on the fact of linkage of etiology between the two entities. 9 , 10 Genetic disorders, teratogenic factors including drugs and toxic diseases like infections have all been associated with the etiology of caudal regression syndrome and sirenomelia; 9 , 10 the exact mechanisms are not fully elucidated. Although Lynch and Wright 6 described an autosomal form of caudal dysgenesis, no chromosomal abnormalities have been reported in cases of sirenomelia and the fetal anomaly does not recur in families.…”

“… 9 The chances of survival of these fetuses as described by some authors are largely dependent on the extent and may be severity of associated visceral anomalies, especially disorders such as obstructive renal failure due to renal agenesis/dysgenesis. 4 , 5 , 10 In the cases where antenatal diagnosis may be offered to the patient and a firm diagnosis is made, a voluntary termination of pregnancy is advisable to avoid the mental and psychological disorders for the patients and their family. The decision for termination of pregnancy however depends on the gestational age of the pregnancy at which the diagnosis is made, the severity of the malformations and of course the decision of the patients 7 and their religious beliefs.…”

“…Diagnosis of sacrococcygeal dysgenesis, an important component of sirenomelia, could be made by antenatal/prenatal ultrasonography, as early as 9 weeks in the first trimester by transvaginal ultrasonography, although more commonly in the second and third trimesters of pregnancy. 9 , 10 If such an investigative tool had been available to our patient, it could have contributed to the management of our patient depending on the gestational age at diagnosis, because she could have been informed about the presence of malformations and thus enabled to make a proper decision on the subsequent management after appropriate counseling.…”

“…We could not confirm MRI examination in our neonate, an important diagnostic tool in such neonates. 10 The definitive management of sirenomelia is difficult, time-consuming, complex and expensive, and a satisfactory outcome is not always guaranteed. 2 , 7 The main therapeutic modality involves surgical and medical management aimed mainly at carrying out ameliorative surgery and maintaining satisfactory systemic function.…”