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      Clinico-radiologic Findings in Group II Caudal Regression Syndrome

      case-report

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          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Caudal regression syndrome (CRS) is a rare congenital abnormality in which a segment of the lumbo-sacral spine and spinal cord fails to develop. The severity of the morphologic derangement inversely correlates with residual spinal cord function. We present a case report of a 10-year-old girl with Group 2 CRS, to emphasize clinical and radiologic findings in this rare abnormality.

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          Five cases of caudal regression with an aberrant abdominal umbilical artery: Further support for a caudal regression-sirenomelia spectrum.

          R Siebert, Raj P. Kapur, M. Ernst … (2007)
          Sirenomelia and caudal regression have sparked centuries of interest and recent debate regarding their classification and pathogenetic relationship. Specific anomalies are common to both conditions, but aside from fusion of the lower extremities, an aberrant abdominal umbilical artery ("persistent vitelline artery") has been invoked as the chief anatomic finding that distinguishes sirenomelia from caudal regression. This observation is important from a pathogenetic viewpoint, in that diversion of blood away from the caudal portion of the embryo through the abdominal umbilical artery ("vascular steal") has been proposed as the primary mechanism leading to sirenomelia. In contrast, caudal regression is hypothesized to arise from primary deficiency of caudal mesoderm. We present five cases of caudal regression that exhibit an aberrant abdominal umbilical artery similar to that typically associated with sirenomelia. Review of the literature identified four similar cases. Collectively, the series lends support for a caudal regression-sirenomelia spectrum with a common pathogenetic basis and suggests that abnormal umbilical arterial anatomy may be the consequence, rather than the cause, of deficient caudal mesoderm. (c) 2007 Wiley-Liss, Inc.
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            Sirenomelia, the mermaid syndrome--detection in the first trimester.

            Wolfgang Holzgreve, Sevgi Tercanli, Roberto Lopez Cervera … (2003)
            The sirenomelia sequence with fusion, rotation, hypotrophy or atrophy of the lower limbs in combination with severe urogenital and gastrointestinal malformations is a rare and usually lethal disorder. We present the case of a 28-year-old woman, who was referred to our department because of an intraabdominal cystic structure in the 9th week of gestation. Subsequent scans confirmed the diagnosis of a sirenomelia sequence with the fusion of the lower extremities without fusion of the bones according to Stocker I classification. The size of the intraabdominal cyst decreased during follow-up. After counseling, termination of pregnancy was induced. The postmortem X-ray confirmed the ultrasound diagnosis. The exact etiological mechanism of this malformation is still unknown. An early alteration of the embryological vascular network damaging the caudal mesoderm is thought to lead to arrested development of the lower limbs and other affected organs. The cyst we saw in the 9th week might fit with this theory, either as an expression of the complex malformation of the lower abdomen or as the sonographic appearance of necrosis. Copyright 2003 John Wiley & Sons, Ltd.
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              First trimester diagnosis of sirenomelia.

              Douwe van Sinderen, A. M. Veen, Mieke Cannie … (2006)
              We present a case of sirenomelia diagnosed on a first trimester ultrasound at 10 weeks' gestation and confirmed on 3D-ultrasound and MRI. The pregnancy was terminated at 15 gestational weeks and the post-mortem examination, including RX and microscopy, is presented. The sirenomelia sequence is a rare and lethal anomaly characterized by fusion, rotation, hypotrophy or atrophy of the lower limbs and severe urogenital abnormalities leading to oligohydramnios in the second half of pregnancy. Our case illustrates that the diagnosis of sirenomelia can be reliably made in the first trimester.
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                Author and article information

                Journal
                Journal ID (nlm-ta): J Clin Imaging Sci
                Journal ID (iso-abbrev): J Clin Imaging Sci
                Journal ID (publisher-id): JCIS
                Title: Journal of Clinical Imaging Science
                Publisher: Medknow Publications & Media Pvt Ltd (India )
                ISSN (Print): 2156-7514
                ISSN (Electronic): 2156-5597
                Publication date Collection: 2013
                Publication date (Electronic): 29 June 2013
                Volume: 3
                Electronic Location Identifier: 26
                Affiliations
                [1]Department of Radiodiagnosis, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
                [1 ]Department of Neurosurgery, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
                Author notes
                Address for correspondence: Dr. Pankaj Sharma, (Presently affiliated to Delhi State Cancer Institutes, Delhi) B 78, Sector 23, Noida - 201 301, Uttar Pradesh, India. E-mail: pankajrad7477@ 123456yahoo.com
                Article
                Publisher ID: JCIS-3-26
                DOI: 10.4103/2156-7514.114214
                PMC ID: 3779398
                PubMed ID: 24083063
                SO-VID: 7bd19922-7c4d-461c-84b2-4a05c85bb283
                Copyright © Copyright: © 2013 Sharma P
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

                History
                Date received : 28 February 2012
                Date accepted : 19 March 2012
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Radiology & Imaging
                Keywords: dysgenesis,dysraphic,imperforate,lipomyelocystocele
                Data availability:
                ScienceOpen disciplines: Radiology & Imaging
                Keywords: dysgenesis, dysraphic, imperforate, lipomyelocystocele

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