- Case report
- Open Access
- Open Peer Review
Prenatal diagnosis of Caudal Regression Syndrome : a case report
© Aslan et al; licensee BioMed Central Ltd. 2001
- Received: 8 October 2001
- Accepted: 11 December 2001
- Published: 11 December 2001
Caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae, to the most severe form which is known as sirenomelia. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors.
We report a case of caudal regression syndrome diagnosed in utero at 22 weeks' of gestation. Prenatal ultrasound examination revealed a sudden interruption of the spine and "frog-like" position of lower limbs. Termination of pregnancy and autopsy findings confirmed the diagnosis.
Prenatal ultrasonographic diagnosis of caudal regression syndrome is possible at 22 weeks' of gestation by ultrasound examination.
- Ventricular Septal Defect
- Club Foot
- Diabetic Mother
- Renal Agenesis
Caudal regression syndrome represents a spectrum congenital malformations ranging from agenesis of the lumbosacral spine to the most severe cases of sirenomelia with lower extremity fusion and major vessel anomalies. The etiology of this syndrome is not well-known. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors .
Caudal regression syndrome is an uncommon malformation in the general population, but occurs in about one in 350 infants of diabetic mothers, representing an increase of about 200-fold over the rate seen in the general population . Whereas sacral agenesis is estimated to occur in 0.3 to 1 percent of infants born to pregestational and gestational diabetic mothers, only 8 to 16 percent of infants with the syndrome were delivered to these patients .
The embryologic insult occurs at the midposterior axis mesoderm and the lesion originates before the fourth weeks of gestation but the etiology of caudal regression syndrome remains unclear . Recent advances in the understanding of axial mesoderm patterning during early embryonic development suggest that sirenomelia represents the most severe end of the caudal regression spectrum .
Detailed evaluation of the fetal spine and lower extremities is an important aspect of every prenatal ultrasound examination. Sacral agenesis is a less severe variant of caudal regression syndrome and in the presence of normal amniotic fluid, the diagnosis can be made by demonstrating the termination of lumbar spine and small and abnormal lower extremities . Both findings were present in this case. In sirenomelia third-trimester ultrasonographic diagnosis is usually impaired by severe oligohydramnios related to bilateral renal agenesis, whereas during the early second trimester the amount of amniotic fluid may be sufficient to allow diagnosis. Early antenatal sonographic diagnosis is important in view of the dismal prognosis, and allows for earlier, less traumatic termination of pregnancy .
Sacral and/or lumbosacral agenesis has been well described. However, especially as far as MRI studies are concerned, thoraco-lumbosacral agenesis has rarely been reported .
Amnioinfusion and magnetic resonance imaging may be helpful in evaluation of the fetal anatomy in cases with oligohydramnios .
The diagnosis is often made late in pregnancy. In this case detection of the abnormality at 22 weeks' of pregnancy allowed termination of pregnancy. Early detection of caudal regression syndrome at 11 weeek's of gestational age by transvaginal ultrasound scanning was reported. In the first trimester crown-rump length was found to be smaller than expected in caudal regression using abdominal ultrasound . In differential diagnosis body-wall complex with caudal defects and segmental spinal dysgenesis should be evaluated. Bladder exstrophy, omphalocele and sacral myelomeningocele can be demonstrated in body-wall complex.
Segmental spinal dysgenesis (SSD) is a rare congenital abnormality in which a segment of the spine and spinal cord fails to develop properly. SSD and caudal regression syndrome probably represent two faces of a single spectrum of segmental malformations of the spine and spinal cord. The neuroradiologic picture depends on the severity of the malformation and on its segmental level along the longitudinal embryonic axis. The severity of the morphologic derangement correlates with residual spinal cord function and with severity of the clinical deficit .
Orthopedic, gastrointestinal, genitourinary and cardiac anomalies are associated with caudal regression syndrome . In our case club feet, flexion contractures of hips and knees, kyphoscoliosis and absence of ribs are the orthopedic deformities. A ventricular septal defect was the associated cardiac malformation .
The prognosis for children with caudal regression syndrome depends on the severity of the lesion and the presence of associated anomalies. Surviving infants have usually a normal mental function and they require extensive urologic and orthopedic assistence .
Prenatal ultrasonographic diagnosis of caudal regression syndrome is possible at 22 weeks' of gestation. Visualization of the anomalies such as amputation of the spine and the deformities of extremities which were described in this report should not be difficult, particularly with normal amniotic fluid.
- Reece EA, Hobbins JC: Diabetic embryopathy: Pathogenesis, prenatal diagnosis and prevention. Obstet Gynecol Surv. 1986, 41: 325-335.View ArticlePubMedGoogle Scholar
- Mills JL: Malformations in infants of diabetic mothers. Teratology. 1984, 25: 385-394.View ArticleGoogle Scholar
- Passarge E, Lenz W: Syndrome of caudal regression in infants of diabetic mothers. Pediatrics. 1966, 37: 672-PubMedGoogle Scholar
- Gabbe SG, Cohen AW: Diabetes mellitus in pregnancy. In: Perinatal medicine: Management of the high risk fetus and neonate. (Edited by Bolognese RJ, Schwarz RH, Schneider J). Baltimore, Williams and Wilkins. 1982, 336-347.Google Scholar
- Valenzano M, Paoletti R, Rossi A, et al: Sirenomelia. Pathologic features, antenatal ultrasonographic clues, and a review of current embryogenic theories. Hum Reprod. 1999, 5: 82-86.View ArticleGoogle Scholar
- Sonek JD, Gabbe SG, Landon MB, et al: Antenatal diagnosis of sacral agenesis syndrome in a pregnancy complicated by diabetes mellitus. Am J Obstet Gynecol. 1990, 162: 806-View ArticlePubMedGoogle Scholar
- Mihmanli I, Kuruoglu S, Kantarci F, Kanberoglu K: Dorsolumbosacral agenesis. Pediatr Radiol. 2001, 31: 286-288. 10.1007/s002470000411.View ArticlePubMedGoogle Scholar
- Quetel TA, Mejides AA, Salman FA, et al: Amnioinfusion: An aid in the ultrasonographic evaluation of severe oligohydramnios in pregnancy. Am J Obstet Gynecol. 1992, 167: 333-View ArticlePubMedGoogle Scholar
- Fitzmorris-Glass R, Mattrey RF, Cantrell CJ: Magnetic resonance imaging as an adjunction to ultrasound in oligohydramnios. Detection of syrenomelia. J Ultrasound Med. 1989, 8: 159-PubMedGoogle Scholar
- Tortori-Donati P, Fondelli MP, Rossi A, et al: Segmental spinal dysgenesis: neuroradiologic findings with clinical and embryologic correlation. Am J Neuroradiol. 1999, 20: 445-456.PubMedGoogle Scholar
- Baxi L, Warren W, Collins MH, Timor-Tritsch IE: Early detection of caudal regression syndrome with transvaginal scanning. Obstet Gynecol. 1990, 75: 486-489.PubMedGoogle Scholar
- Mariani AJ, Stern J, Khan AU, et al: Sacral agenesis: An analysis of 11 cases and review of the literature. J Urol. 1979, 122: 684-PubMedGoogle Scholar
- Adra A, Cordero D, Mejides A, et al: Caudal regression syndrome: Etiopathogenesis, prenatal diagnosis, and perinatal management. Obstet Gynecol Sur. 1994, 49: 508-516.View ArticleGoogle Scholar
- The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2393/1/8/prepub
This article is published under license to BioMed Central Ltd. This is an Open Access article: verbatim copying and redistribution of this article are permitted in all media for any purpose, provided this notice is preserved along with the article's original URL.