MULTIFACETED CLINICAL PRESENTATION OF CAUDAL REGRESSION SYNDROME: A CASE REPORT AND LITERATURE REVIEW

Authors

  • Mykhailo Dmytrovych Protsailo Department of Children’s Diseases and Pediatric Surgery, I. Horbachevsky Ternopil National Medical University, Ternopil, Ukraine https://orcid.org/0000-0003-1710-3172
  • Uliana Mykhailivna Mudryk Department of Children’s Diseases and Pediatric Surgery, I. Horbachevsky Ternopil National Medical University, Ministry of Health of Ukraine, Ternopil, Ukraine https://orcid.org/0000-0001-8078-0462
  • Pavlo Vasylovych Bidzilya Department of Otorhinolaryngology, Ophthalmology and Neurosurgery, I. Horbachevsky Ternopil National Medical University, Ministry of Health of Ukraine, Ternopil, Ukraine https://orcid.org/0000-0002-2227-6599
  • Petro Stepanovych Hudak Department of Otorhinolaryngology, Ophthalmology and Neurosurgery, I. Horbachevsky Ternopil National Medical University, Ministry of Health of Ukraine, Ternopil, Ukraine https://orcid.org/0000-0001-9039-1372
  • Oksana Ivanivna Khlibovska Department of Obstetrics and Gynaecology Faculty of Postgraduate Education, I. Horbachevsky Ternopil National Medical University, Ternopil, Ukraine https://orcid.org/0000-0003-3293-0010
  • Irуna Mykolaivna Nikitina Department of Obstetrics, Gynecology and Family Planning, Medical Institute of Sumy State University, Sumy, Ukraine https://orcid.org/0000-0001-6595-2502
  • Volodymyr Heorgiyovych Dzhyvak Department of Children’s Diseases and Pediatric Surgery, I. Horbachevsky Ternopil National Medical University, Ternopil, Ukraine https://orcid.org/0000-0002-4885-7586

DOI:

https://doi.org/10.21272/eumj.2025;13(4);963-973

Keywords:

caudal regression syndrome; renal agenesis; bicornuate uterus; ovarian cyst; spine; case report

Abstract

The purpose of the study is to analyze modern scientific achievements in the field of anomalies of the caudal spine and syndromic diseases that are most common in medical practice, and compare them with our clinical observations.

Materials and methods: A rare clinical case of caudal regression syndrome in a child was investigated. Medical history was studied by interviewing the parents, reviewing outpatient and inpatient records, and analyzing the results of clinical and laboratory tests. The primary method of examination was X-ray. For more accurate diagnosis, ultrasound, and contrast-enhanced computed tomography (with Tomohexol-350) in 3-D format were used. Our findings were compared with the results of other studies conducted over the last ten years.

Results of the study and discussion: A 15-year-old girl, G., was under our observation. Her weight was 50 kg, and her height was 167 cm. A month prior to admission, she had experienced pain in the lower abdomen and lumbar spine. She became fatigued quickly, could stand and run only for short periods. The spinal axis deviated to the right in the lumbar region, with the apex of the curvature at the third lumbar vertebra, and a fixed deformity. Plain radiographs of the lumbar spine revealed multiple vertebral malformations. An ultrasound of the abdominal cavity showed a cyst on the left ovary, agenesis of the left kidney, and multiple malformations of the lumbar spine. The uterus was deformed – "bicornuate uterus". A diagnosis of caudal regression syndrome was made, and the course of the condition and treatment were described.

Conclusions: A defect that develops in the early stages of embryogenesis typically leads to multiple malformations of nearby anatomical structures. This phenomenon is known as sequencing – the sequence of congenital multiple malformations, which is supported by our findings. It is clear that caudal regression syndrome may have several variants, which require further study.

Downloads

Download data is not yet available.

References

Howley MM, Williford E, Agopian AJ, Lin AE, Botto LD, Cunniff CM, Romitti PA, Nestoridi E, Browne ML et al. National Birth Defects Prevention Study (2023). Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights. Birth defects research, 115(1), 43–55. https://doi.org/10.1002/bdr2.2003.

National Research Council (US) Committee on Developmental Toxicology. Scientific Frontiers in Developmental Toxicology and Risk Assessment. Washington (DC): National Academies Press (US); 2000. 2, Developmental Defects and Their Causes. Available from: https://www.ncbi.nlm.nih.gov/books/NBK225664/.

Han KG, Song SM, Hong SD, Song MH. (2019). Definition and educational support for students with severe and multiple disabilities recognized by special education teachers. Korean Journal of Physical, Multiple and Health Disabilities, 62(3), 75–97. https://doi.org/10.20971/kcpmd.2019.62.3.75.

Sahai I, Marsden D. (2009). Newborn screening. Critical reviews in clinical laboratory sciences, 46(2), 55–82. https://doi.org/10.1080/10408360802485305

Younger DS. (2023). Neonatal and infantile hypotonia. Handbook of clinical neurology, 195, 401–423. https://doi.org/10.1016/B978-0-323-98818-6.00011-X.

Jin L, He F, Zhang C. (2023). Quality management of the newborn screening network: the Chinese experience. Chinese medical journal, 136(17), 2122–2124. https://doi.org/10.1097/CM9.0000000000002386.

Nicholson LL, Chan C, Tofts L, Pacey V. (2022). Hypermobility syndromes in children and adolescents. Australian Journal of General Practice, 51(6), 409–414. https://doi.org/10.31128/AJGP-03-21-5870.

Ahmad S, Ali MZ, Muzammal M, Mir FA, Khan MA. (2022). The molecular genetics of human appendicular skeleton. Molecular Genetics and Genomics. Springer Science and Business Media Deutschland GmbH. https://doi.org/10.1007/s00438-022-01930-1.

Keith Gettys F, De La Rocha A, Ramo BA. (2022). Incidence and Risk Factors for Concurrent Syndromic Diagnosis in Presumed Idiopathic Developmental Dysplasia of the Hip. Journal of the American Academy of Orthopaedic Surgeons Global Research and Reviews, 6(6). https://doi.org/10.5435/JAAOSGlobal-D-21-00169

Jasiewicz B, Kacki W. (2023, March 1). Caudal Regression Syndrome—A Narrative Review: An Orthopedic Point of View. Children. MDPI. https://doi.org/10.3390/children10030589.

Purbasari U, Nazar H, Miraj F, Aprilia D, Widiani W, Suprihatin M, Eureka AN. (2023). Caudal regression syndrome from radiology and clinical perspective: A case series and a proposed new integrated diagnostic algorithm. Radiology Case Reports, 18(7), 2478–2486. https://doi.org/10.1016/j.radcr.2023.04.015.

Gajagowni S, Nair P, Bapat AC, Vachharajani AJ. (2022, October 1). Diabetic Embryopathies. NeoReviews. NLM (Medline). https://doi.org/10.1542/neo.23-10-e677.

Mehdi SM, Baig U, Zia MH, Iftikhar N. (2021). Caudal regression syndrome — a rare congenital disorder: A case report. Journal of the Pakistan Medical Association, 71(12), 2847–2849. https://doi.org/10.47391/JPMA.01-499.

Protsailo M, Dzhyvak V, Tkachuk V, Horishnyi I, Voroncova T, Kucher S, Khlibovska O. (2024). Clinical Aspects of the Tubular Bones Epiphyseal Plate Malformations (Literature review). Family Medicine. European Practices, (3), 77–83. https://doi.org/10.30841/2786-720X.3.2024.313979.

Babaei H, Khosravifar M. (2021). Caudal Regression Syndrome: A Case Report. Iranian Journal of Neonatology, 12(4), 92–95. https://doi.org/10.22038/IJN.2021.51887.1918.

Kalicka K, Zajączkowska MM, Piechuta L, Czyż J, Kasza A, Majewski M, Sikora P. (2016). Neurogenic bladder as a symptom of caudal regression syndrome. Pediatria Polska, 91(6), 628–631. https://doi.org/10.1016/j.pepo.2016.08.003.

Hage D, Iwanaga J, Dumont AS, Tubbs RS. (2020). Caudal regression syndrome and a pelvic kidney: case report. Anatomy and Cell Biology, 53(4), 509–511. https://doi.org/10.5115/acb.20.057.

Ho SSY, O’Donoghue K, Choolani M. (2003). Fetal Cells in Maternal Blood: State of the Art for Non-Invasive Prenatal Diagnosis. Annals of the Academy of Medicine Singapore. Academy of Medicine Singapore.

Howley MM, Williford E, Agopian AJ, Lin AE, Botto LD, Cunniff CM, Browne ML. (2023). Patterns of multiple congenital anomalies in the National Birth Defect Prevention Study: Challenges and insights. Birth Defects Research, 115(1), 43–55. https://doi.org/10.1002/bdr2.2003.

Bhatt S, Tandon A, Singh AK, Manchanda S, Jain S, Meena N. (2017). Caudal regression syndrome: A case study with associated review of common differential diagnoses made with antenatal sonography. Journal of Diagnostic Medical Sonography, 33(2), 130–133. https://doi.org/10.1177/8756479316677012.

Küçük Ş, Küçük İG. (2020). Sirenomelia (Mermaid syndrome): A case report. Turk Patoloji Dergisi, 36(3), 256–260. https://doi.org/10.5146/tjpath.2020.01491

Shojaee A, Ronnasian F, Behnam M, Salehi M. (2021). Sirenomelia: two case reports. Journal of Medical Case Reports, 15(1). https://doi.org/10.1186/s13256-021-02699-4.

Kanagasabai K, Bhat V, Pramod G, Patil SJ, Kiranmayi S. (2017). Severe caudal regression syndrome with overlapping features of VACTERL complex: antenatal detection and follow up. BJR case Reports, 3(2), 20150356. https://doi.org/10.1259/bjrcr.20150356

Protsailo MD, Fedortsiv OY, Dzhyvak VG, Krycky IO, Hoshchynskyi PV, Horishnyi IM, Chornomydz IB, Rohalska YV, Synytska VO, Prodan AM, Nikitina IM. (2023). Clinical Features of connective tissue dysplasia, osgood-schlatter disease and multiple cortical disorders in a child. Wiadomosci lekarskie (Warsaw, Poland : 1960), 76(8), 1854–1860. https://doi.org/10.36740/WLek202308120.

Kyejo W, Mohamed F, Zahran F, Saudin S, Ngowi A, Anselm J, Gachocha G. (2023). Incidental right renal agenesis in a 23-year-old patient: A case report. SAGE Open Medical Case Reports, 11, 2050313X231211711.

Szmigielska A, Krzemień G, Zacharzewska A, Dudek-Warchoł T, Warchoł S. (2018). [Congenital megacalycosis in a girl with unilateral renal agenesis]. Polski Merkuriusz Lekarski : Organ Polskiego Towarzystwa Lekarskiego, 44(262), 205–207.

Plutecki D, Kozioł T, Bonczar M, Ostrowski P, Skorupa A, Matejuk S, Koziej M. (2023). Renal agenesis: A meta-analysis of its prevalence and clinical characteristics based on 15 641 184 patients. Nephrology. John Wiley and Sons Inc. https://doi.org/10.1111/nep.14190.

Jain S, Chen F. Developmental pathology of congenital kidney and urinary tract anomalies. Clin Kidney J. 2018;12(3):382-399. https://doi.org/10.1093/ckj/sfy112.

Tanaka T, Matsumoto F, Matsuyama S, Matsui F. Unilateral renal agenesis and ipsilateral absence of the vas deferens in a cryptorchid infant with Klippel-Feil syndrome. Urol Case Rep. 2023;51:102600. https://doi.org/10.1016/j.eucr.2023.102600.

McArdle Z, Schreuder MF, Moritz KM, Denton KM, Singh RR. Physiology and Pathophysiology of Compensatory Adaptations of a Solitary Functioning Kidney. Front Physiol. 2020;11:725. https://doi.org/10.3389/fphys.2020.00725.

Abecassis M, Bartlett ST, Collins AJ, Davis CL, Delmonico FL, Friedewald JJ, Hays R, Howard A, Jones E, Leichtman AB, Merion RM, Metzger RA, Pradel F, Schweitzer EJ, Velez RL, Gaston RS. Kidney transplantation as primary therapy for end-stage renal disease: a National Kidney Foundation/Kidney Disease Outcomes Quality Initiative (NKF/KDOQITM) conference. Clin J Am Soc Nephrol. 2008;3(2):471-80. https://doi.org/10.2215/CJN.05021107.

Westenius E, Conner P, Pettersson M, Sahlin E, Papadogiannakis N, Lindstrand A, Iwarsson E. Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting. Ultrasound Obstet Gynecol. 2024;63(5):658-663. https://doi.org/10.1002/uog.27592.

Feld K, Bonni M, Körber F, Eifinger F, Banaschak S. Post-mortem estimation of gestational age and maturation of new-borns by CT examination of clavicle length, femoral length and femoral bone nuclei. Forensic Sci Int. 2020;314:110391. https://doi.org/10.1016/j.forsciint.2020.110391

Kolte AM, Westergaard D, Lidegaard Q, Brunak S, Nielsen HS. Chance of live birth: a nationwide, registry-based cohort study. Hum Reprod. 2021;36(4):1065-1073. https://doi.org/10.1093/humrep/deaa326.

Zhang G, Srivastava A, Bacelis J, Juodakis J, Jacobsson B, Muglia LJ. Genetic studies of gestational duration and preterm birth. Best Pract Res Clin Obstet Gynaecol. 2018;52:33-47. https://doi.org/10.1016/j.bpobgyn.2018.05.003.

Verma RP. Evaluation and Risk Assessment of Congenital Anomalies in Neonates. Children (Basel). 2021;8(10):862. https://doi.org/10.3390/children8100862.

Malherbe HL, Modell B, Blencowe H, Strong KL, Aldous C. A review of key terminology and definitions used for birth defects globally. J Community Genet. 2023;14(3):241-262. https://doi.org/10.1007/s12687-023-00642-2.

Seven M, Yigin AK, Agirbasli D, Alay MT, Kirbiyik F, Demir M. Radiation exposure in pregnancy: outcomes, perceptions and teratological counseling in Turkish women. Ann Saudi Med. 2022;42(3):214-221. https://doi.org/10.5144/0256-4947.2022.03.03.1200

Mazzu-Nascimento T, Melo DG, Morbioli GG, Carrilho E, Vianna FSL, Silva AA, Schuler-Faccini L. Teratogens: a public health issue - a Brazilian overview. Genet Mol Biol. 2017;40(2):387-397. https://doi.org/10.1590/1678-4685-GMB-2016-0179.

Downloads

Published

2025-12-31

How to Cite

Protsailo, M. D. ., Mudryk, U. M. ., Bidzilya, P. V. ., Hudak, P. S. ., Khlibovska, O. I. ., Nikitina, I. M. ., & Dzhyvak, V. H. . (2025). MULTIFACETED CLINICAL PRESENTATION OF CAUDAL REGRESSION SYNDROME: A CASE REPORT AND LITERATURE REVIEW. Eastern Ukrainian Medical Journal, 13(4), 963–973. https://doi.org/10.21272/eumj.2025;13(4);963-973

Issue

Vol. 13 No. 4 (2025): EASTERN UKRAINIAN MEDICAL JOURNAL

Section

LITERATURE REVIEW. PEDIATRICS

License

Copyright (c) 2025 Mykhailo Dmytrovych Protsailo, Uliana Mykhailivna Mudryk, Pavlo Vasylovych Bidzilya, Petro Stepanovych Hudak, Oksana Ivanivna Khlibovska, Irуna Mykolaivna Nikitina, Volodymyr Heorgiyovych Dzhyvak

Creative Commons License

This work is licensed under a Creative Commons Attribution 4.0 International License.