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Erschienen in: Pediatric Surgery International 7/2005

01.07.2005 | Case Report

Caudal regression syndrome—case report and review of literature

verfasst von: Santosh Kumar Singh, Rupa Dalmia Singh, Akhilesh Sharma

Erschienen in: Pediatric Surgery International | Ausgabe 7/2005

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Abstract

Caudal regression syndrome is a rare disorder of distal spinal segments affecting the development of the spinal cord, with attendant sequelae. Intelligence is preserved. The exact etiology is elusive, though maternal diabetes, genetic factors, and hypoperfusion might play roles. Recently, the role of teratogens has been studied in animal models. Treatment is difficult, multidisciplinary, and largely supportive. Lower limb deformities with sensory and motor loss and neurogenic bladder call for intensive and long-term attention.
Literatur
1.
Zurück zum Zitat Padmanbhan R (1998) Retinoic acid-induced caudal regression syndrome in the mouse fetus. Reprod Toxicol 12(4):496–498CrossRefPubMed Padmanbhan R (1998) Retinoic acid-induced caudal regression syndrome in the mouse fetus. Reprod Toxicol 12(4):496–498CrossRefPubMed
2.
Zurück zum Zitat Pang D (1993) Sacral agenesis and caudal spinal cord malformation. Neurosurgery 32(5):755–778PubMedCrossRef Pang D (1993) Sacral agenesis and caudal spinal cord malformation. Neurosurgery 32(5):755–778PubMedCrossRef
3.
Zurück zum Zitat Stevenson RE, Jones KL, Phelan MC et al (1986) Vascular steal: the pathogenic mechanism producing sirenomelia and associated defects of the viscera and soft tissue. Pediatrics 78:451–457PubMed Stevenson RE, Jones KL, Phelan MC et al (1986) Vascular steal: the pathogenic mechanism producing sirenomelia and associated defects of the viscera and soft tissue. Pediatrics 78:451–457PubMed
4.
Zurück zum Zitat Jones KL (1997) Smith’s recognizable patterns of human malformation, 5th edn. WB Saunders, Philadelphia Jones KL (1997) Smith’s recognizable patterns of human malformation, 5th edn. WB Saunders, Philadelphia
5.
Zurück zum Zitat Valenzano M, Paoletti R, Rossi A, Farinini D, Garlaschi G, Fulcheri E (1999) Sirenomelia pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories. Human Reprod Update 5(1):82–86CrossRef Valenzano M, Paoletti R, Rossi A, Farinini D, Garlaschi G, Fulcheri E (1999) Sirenomelia pathological features, antenatal ultrasonographic clues, and a review of current embryogenic theories. Human Reprod Update 5(1):82–86CrossRef
6.
Zurück zum Zitat Duhamel B (1964) From the mermaid to anal imperforation: the syndrome of caudal regression. Arch Dis Child 36:152–155 Duhamel B (1964) From the mermaid to anal imperforation: the syndrome of caudal regression. Arch Dis Child 36:152–155
7.
Zurück zum Zitat Fukada Y, Yasumizu T, Tsurugi Y, Ohta S, Hoshi K (1999) Caudal regression syndrome detected in a fetus with increased nuchal translucency. Acta Obstet Gynecol Scand 78:655–656PubMedCrossRef Fukada Y, Yasumizu T, Tsurugi Y, Ohta S, Hoshi K (1999) Caudal regression syndrome detected in a fetus with increased nuchal translucency. Acta Obstet Gynecol Scand 78:655–656PubMedCrossRef
8.
Zurück zum Zitat Welch JP, Aterman K (1984) Syndrome of caudal regression: a review, including etiologic considerations and evidence of heterogeneity. Pediatr Path 2:313–327CrossRef Welch JP, Aterman K (1984) Syndrome of caudal regression: a review, including etiologic considerations and evidence of heterogeneity. Pediatr Path 2:313–327CrossRef
9.
Zurück zum Zitat Silva SR, Jeanty P (1999) Caudal regression syndrome. http://www.thefetus.net/page.php?id=94 Silva SR, Jeanty P (1999) Caudal regression syndrome. http://​www.​thefetus.​net/​page.​php?​id=​94
10.
Zurück zum Zitat Rusnak SL, Driscoll SG (1965) Congenital spinal anomalies in infants of diabetic mothers. Pediatrics 35:989–995PubMed Rusnak SL, Driscoll SG (1965) Congenital spinal anomalies in infants of diabetic mothers. Pediatrics 35:989–995PubMed
11.
Zurück zum Zitat Passarge E, Lenz W (1966) Syndrome of caudal regression in infants of diabetic mothers: observations of further cases. Pediatrics 37:672–675PubMed Passarge E, Lenz W (1966) Syndrome of caudal regression in infants of diabetic mothers: observations of further cases. Pediatrics 37:672–675PubMed
12.
Zurück zum Zitat Price DL, Dooling EC, Richardson EP (1970) Caudal dysplasia (regression syndrome). Arch Neurol 23:212–220PubMed Price DL, Dooling EC, Richardson EP (1970) Caudal dysplasia (regression syndrome). Arch Neurol 23:212–220PubMed
13.
Zurück zum Zitat Finer NN, Bowen P, Dunbar LG (1978) Caudal regression anomalad (sacral agenesis in siblings). Clin Genet 13:353–358PubMedCrossRef Finer NN, Bowen P, Dunbar LG (1978) Caudal regression anomalad (sacral agenesis in siblings). Clin Genet 13:353–358PubMedCrossRef
14.
Zurück zum Zitat Stewart JM, Stoll S (1979) Familial caudal regression anomalad and maternal diabetes. J Med Genet 16:17–20PubMedCrossRef Stewart JM, Stoll S (1979) Familial caudal regression anomalad and maternal diabetes. J Med Genet 16:17–20PubMedCrossRef
15.
Zurück zum Zitat Goto MP, Goldman AS (1994) Diabetic embryopathy. Curr Sci 6:486–491 Goto MP, Goldman AS (1994) Diabetic embryopathy. Curr Sci 6:486–491
16.
Zurück zum Zitat Patel AB, Renge RL (2001) Images in clinical practice—caudal regression syndrome. Indian Pediatrics 38:98PubMed Patel AB, Renge RL (2001) Images in clinical practice—caudal regression syndrome. Indian Pediatrics 38:98PubMed
17.
Zurück zum Zitat Jaffe R, Zeituni M, Fejgin M (1991) Caudal regression syndrome. Fetus Spinal Anomalies 7561:1–3 Jaffe R, Zeituni M, Fejgin M (1991) Caudal regression syndrome. Fetus Spinal Anomalies 7561:1–3
18.
Zurück zum Zitat Versiani BR, Gilbert-Barness E, Giuliani LR, Peres LC, Pina-Neto JM (2004) Caudal dysplasia sequence: severe phenotype presenting in offspring of patients with gestational and pregestational diabetes. Clin Dysmorphol 13(1):1–5CrossRefPubMed Versiani BR, Gilbert-Barness E, Giuliani LR, Peres LC, Pina-Neto JM (2004) Caudal dysplasia sequence: severe phenotype presenting in offspring of patients with gestational and pregestational diabetes. Clin Dysmorphol 13(1):1–5CrossRefPubMed
19.
Zurück zum Zitat Hashimoto R, Nagaya M, Ishiguro Y et al (2002) Relationship of the fistula to the rectum and genitourinary tract in mouse fetus with high anorectal malformations induced by all-trans retinoic acid. Pediatr Surg Int 18(8):723–727PubMed Hashimoto R, Nagaya M, Ishiguro Y et al (2002) Relationship of the fistula to the rectum and genitourinary tract in mouse fetus with high anorectal malformations induced by all-trans retinoic acid. Pediatr Surg Int 18(8):723–727PubMed
20.
Zurück zum Zitat Rojansky N, Fasouliotis SJ, Ariel I, Nadjari M (2002) Extreme caudal agenesis. Possible drug-related etiology? J Reprod Med 47(3):241–245PubMed Rojansky N, Fasouliotis SJ, Ariel I, Nadjari M (2002) Extreme caudal agenesis. Possible drug-related etiology? J Reprod Med 47(3):241–245PubMed
21.
Zurück zum Zitat Nievelstein RA, Valk J, Smit LM, Vermeij-Keers C (1994) MR of the caudal regression syndrome: embryologic implications. AJNR Am J Neuroradiol 15(6):1021-1029PubMed Nievelstein RA, Valk J, Smit LM, Vermeij-Keers C (1994) MR of the caudal regression syndrome: embryologic implications. AJNR Am J Neuroradiol 15(6):1021-1029PubMed
22.
Zurück zum Zitat Thomas CL (1997) Taber’s cyclopedic medical dictionary, 18th edn. FA Davis, Philadelphia Thomas CL (1997) Taber’s cyclopedic medical dictionary, 18th edn. FA Davis, Philadelphia
23.
Zurück zum Zitat Boemers TM, van Gool JD, de Jong TP, Bax KM (1994) Urodynamic evaluation of children with caudal regression syndrome. J Urol 151:1038–1040PubMed Boemers TM, van Gool JD, de Jong TP, Bax KM (1994) Urodynamic evaluation of children with caudal regression syndrome. J Urol 151:1038–1040PubMed
24.
Zurück zum Zitat Adra A, Cordero D, Mejides A, Yasin S, Salman F, O’Sullivan MJ (1994) Caudal regression syndrome: etiopathogenesis, prenatal diagnosis, and perinatal management. Obstet Gynecol Surv 49(7):508-516PubMedCrossRef Adra A, Cordero D, Mejides A, Yasin S, Salman F, O’Sullivan MJ (1994) Caudal regression syndrome: etiopathogenesis, prenatal diagnosis, and perinatal management. Obstet Gynecol Surv 49(7):508-516PubMedCrossRef
25.
Zurück zum Zitat Cama A, Palmieri A, Capra V, Piatelli GL, Ravegnani M, Fondelli P (1996) Multidisciplinary management of caudal regression syndrome. Eur J Ped Surg 6(Suppl):44–45 Cama A, Palmieri A, Capra V, Piatelli GL, Ravegnani M, Fondelli P (1996) Multidisciplinary management of caudal regression syndrome. Eur J Ped Surg 6(Suppl):44–45
26.
Zurück zum Zitat Makhoul IR, Aviram-Goldring A, Paperna T et al (2001) Caudal dysplasia sequence with penile enlargement: case report and a potential pathogenic hypothesis. Am J Med Genet 99(1):54–58CrossRefPubMed Makhoul IR, Aviram-Goldring A, Paperna T et al (2001) Caudal dysplasia sequence with penile enlargement: case report and a potential pathogenic hypothesis. Am J Med Genet 99(1):54–58CrossRefPubMed
27.
Zurück zum Zitat Rodriguez JI, Rivera T, Palacios J (1991) Alagille syndrome with caudal dysplasia sequence. Am J Med Genet 40(1):61–64PubMedCrossRef Rodriguez JI, Rivera T, Palacios J (1991) Alagille syndrome with caudal dysplasia sequence. Am J Med Genet 40(1):61–64PubMedCrossRef
28.
Zurück zum Zitat Halil A, Halil Y, Nurkul C, Gokhan Y, Yavuz C (2001) Prenatal diagnosis of caudal regression syndrome—case report. BMC Pregnancy Childbirth 1:8CrossRefPubMed Halil A, Halil Y, Nurkul C, Gokhan Y, Yavuz C (2001) Prenatal diagnosis of caudal regression syndrome—case report. BMC Pregnancy Childbirth 1:8CrossRefPubMed
29.
Zurück zum Zitat Benacerraf BR (1998) Caudal regression syndrome and sirenomelia in ultrasound of fetal syndromes. Churchill Livingstone, New York, pp 250–254 Benacerraf BR (1998) Caudal regression syndrome and sirenomelia in ultrasound of fetal syndromes. Churchill Livingstone, New York, pp 250–254
30.
Zurück zum Zitat Gonzalez-Quintero VH, Lama T, Dibe M, Romaguera RL, Rodriguez MM, Izquierdo LA (2002) Case report—sonographic diagnosis of caudal regression in the first trimester of pregnancy. J Ultrasound Med 21:1175–1178PubMed Gonzalez-Quintero VH, Lama T, Dibe M, Romaguera RL, Rodriguez MM, Izquierdo LA (2002) Case report—sonographic diagnosis of caudal regression in the first trimester of pregnancy. J Ultrasound Med 21:1175–1178PubMed
31.
Zurück zum Zitat Dumont C, Dansin J, Forin V et al (1993) Lumbosacral agenesis: three cases of reconstruction using Cortel-Dubousset or L-rod instrumentation. Spine 18:1229PubMedCrossRef Dumont C, Dansin J, Forin V et al (1993) Lumbosacral agenesis: three cases of reconstruction using Cortel-Dubousset or L-rod instrumentation. Spine 18:1229PubMedCrossRef
32.
Zurück zum Zitat Rieger MA, Hall JE, Dalury DF (1990) Spinal fusion in a patient with lumbosacral agenesis. Spine 12:1382–1384CrossRef Rieger MA, Hall JE, Dalury DF (1990) Spinal fusion in a patient with lumbosacral agenesis. Spine 12:1382–1384CrossRef
Metadaten
Titel
Caudal regression syndrome—case report and review of literature
verfasst von
Santosh Kumar Singh
Rupa Dalmia Singh
Akhilesh Sharma
Publikationsdatum
01.07.2005
Verlag
Springer-Verlag
Erschienen in
Pediatric Surgery International / Ausgabe 7/2005
Print ISSN: 0179-0358
Elektronische ISSN: 1437-9813
DOI
https://doi.org/10.1007/s00383-005-1451-4

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