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

被引:0
作者
Bulahs, Intars [1 ,2 ]
Teivane, Agnete [1 ,3 ]
Platkajis, Ardis [4 ]
Balodis, Arturs [2 ,4 ]
机构
[1] Riga Stradins Univ, Fac Residency, LV-1007 Riga, Latvia
[2] Pauls Stradins Clin Univ Hosp, Inst Diagnost Radiol, LV-1002 Riga, Latvia
[3] Pauls Stradins Clin Univ Hosp, Dept Neurol, LV-1002 Riga, Latvia
[4] Riga Stradins Univ, Dept Radiol, LV-1007 Riga, Latvia
关键词
caudal regression syndrome; diastematomyelia; dorsal dermal sinus tract; sacral dysplasia; SACRAL AGENESIS; MALFORMATIONS;
D O I
10.3390/diagnostics14101000
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Background: 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.
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页数:10
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