Caudal Regression Syndrome First Diagnosed in Adulthood : A Case Report and a Review of the Literature

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dc.contributor.authorBulahs, Intars
dc.contributor.authorTeivāne, Agnete
dc.contributor.authorPlatkājis, Ardis
dc.contributor.authorBalodis, Arturs
dc.contributor.institutionDepartment of Radiology
dc.date.accessioned2024-05-14T08:00:02Z
dc.date.available2024-05-14T08:00:02Z
dc.date.issued2024-05-11
dc.descriptionPublisher Copyright: © 2024 by the authors.
dc.description.abstractBackground: Caudal regression syndrome (CRS) is a rare congenital malformation characterized by incomplete development of the lower spine and spinal cord. Its estimated incidence ranges from 1 to 2 per 100,000 live births, leading to a spectrum of clinical presentations. Although most cases are diagnosed during childhood, only a small number of cases have been documented in adults in the medical literature. Case Report: A 27-year-old woman underwent an outpatient magnetic resonance imaging (MRI) of the thoracolumbar spine due to severe lower back pain experienced for the first time. Despite congenital leg abnormalities and multiple childhood surgeries, no further investigations were conducted at that time. MRI revealed congenital anomalies consistent with CRS, including coccygeal agenesis, L5 sacralization, and spinal cord defects. The patient also had a long-standing pilonidal cyst treated conservatively, now requiring operative treatment due to an abscess. Conclusions: This report underscores a rare case of CRS initially misdiagnosed and mistreated over many years. It emphasizes the importance of considering less common diagnoses, especially when initial investigations yield inconclusive results. This clinical case demonstrates a highly valuable and educative radiological finding. In the literature, such cases with radiological findings in adults are still lacking.en
dc.description.statusPeer reviewed
dc.format.extent2392234
dc.identifier.citationBulahs, I, Teivāne, A, Platkājis, A & Balodis, A 2024, 'Caudal Regression Syndrome First Diagnosed in Adulthood : A Case Report and a Review of the Literature', Diagnostics, vol. 14, no. 10, 1000, pp. 1-11. https://doi.org/10.3390/diagnostics14101000
dc.identifier.doi10.3390/diagnostics14101000
dc.identifier.issn2075-4418
dc.identifier.otherMendeley: 4a398598-db5f-3e2f-b7ea-e1f940c7d118
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/15486
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85194144803&partnerID=8YFLogxK
dc.language.isoeng
dc.relation.ispartofDiagnostics
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectcaudal regression syndrome
dc.subjectdiastematomyelia
dc.subjectdorsal dermal sinus tract
dc.subjectsacral dysplasia
dc.subject3.2 Clinical medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.titleCaudal Regression Syndrome First Diagnosed in Adulthood : A Case Report and a Review of the Literatureen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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