Caudal regression syndrome—case report and review of literature

Singh, Suvir; Singh, Rajni; Sharma, Akhilesh

doi:10.1007/s00383-005-1451-4

Cited by 78 publications

(70 citation statements)

References 27 publications

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“…Duhamel coined the term of caudal regression syndrome in 1964 to describe this entity [8]. A number of associated anomalies (musculoskeletal, gastrointestinal, genitourinary systems and miscellaneous) have been described, attesting to its heterogeneous nature [2]. These malformations are a consequence of abnormal development of the structures derived from the caudal mesoderm of embryo [2].…”

Section: Discussionmentioning

confidence: 99%

“…A number of associated anomalies (musculoskeletal, gastrointestinal, genitourinary systems and miscellaneous) have been described, attesting to its heterogeneous nature [2]. These malformations are a consequence of abnormal development of the structures derived from the caudal mesoderm of embryo [2]. A neural tube defect, occurring before 28 days of gestation, has been described in particular [2].…”

Section: Discussionmentioning

confidence: 99%

“…These malformations are a consequence of abnormal development of the structures derived from the caudal mesoderm of embryo [2]. A neural tube defect, occurring before 28 days of gestation, has been described in particular [2]. The etiology is unknown.…”

Section: Discussionmentioning

confidence: 99%

“…The pathologies that need special attention are orthopedic deformities and bladder and bowel continence, along with preservation of renal function. The treatment is therefore difficult and must be performed by a multidisciplinary team involving pediatrician, pediatric surgeon, orthopedic surgeon, physiotherapist and social worker [2].…”

Section: Discussionmentioning

confidence: 99%

“…Intelligence is preserved. The exact etiology is elusive, though maternal diabetes, genetic factors and hypoperfusion might be implicated [1,2]. It is characterized by vertebropelvic instability, and manifests as neurological deficit in the lower limbs and absence of bladder and bowel control [3][4][5].…”

Section: Introductionmentioning

confidence: 99%

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Lumbopelvic stabilization with external fixator in a patient with lumbosacral agenesis

2010

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A case of caudal regression syndrome in which rehabilitation was obtained by lumbopelvic distraction and stabilization with external fixation Orthofix Ò is presented. The objective of the study is to describe the benefit of spine external fixator in caudal regression syndrome. Caudal regression syndrome is a rare and sporadic neural defect of distal spinal segments affecting the development of the spinal cord. It is characterized by vertebropelvic instability and essentially manifests as neurological deficit in the lower limbs and absence of bladder and bowel control. Pluridisciplinary management of this affection is complex. The clinical presentation and treatment of caudal regression syndromes are reviewed. A case of a boy for whom physical rehabilitation was obtained with external fixation Orthofix Ò is presented. Lumbopelvic stabilization was performed with autograft and allograft bone. A spine distraction was performed with external fixation with pedicular screws in L1 and L2 and in the pelvis bone. An elongation of 19 mm was obtained in 35 days. The external fixator was removed after 4 months and a spine cast was applied during 8 months. This treatment resulted in lumbopelvic nonunion of very low mobility. Lumbopelvic stability and the disappearance of pain were achieved. Sitting position was stable without hand support. At 14 years of follow-up, his condition is stable with possible deambulation at home with crutches. Lumbopelvic arthrodesis in caudal regression syndrome is difficult to obtain. The use of spine external fixator, however, allows trunk elongation and can achieve a stable sitting and upright position.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Lumbopelvic stabilization with external fixator in a patient with lumbosacral agenesis

2010

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Caudal dysgenesis, sirenomelia, and situs inversus totalis: A primitive defect in blastogenesis

Rougemont

Soglio

Désilets

et al. 2008

American J of Med Genetics Pt A

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Caudal dysgenesis (CD) constitutes a heterogeneous spectrum of congenital caudal anomalies, including varying degrees of agenesis of the vertebral column, as well as anorectal and genitourinary anomalies. Sirenomelia, characterized by a fusion of the lower limbs, could represent the most severe end of this spectrum. The two main debated pathogenic hypotheses are an aberrant vascular supply versus a primary axial mesoderm defect. We present the autopsy findings of two fetuses of non-diabetic mothers, with normal karyotype. Both fetuses presented situs inversus associated with a CD, in one case consisting of sirenomelia, establishing a very rare association profile that might be random. This association also suggests the occurrence of a common pathogenic mechanism, in accordance to recent genetic data, such as displayed in the Kif3A murine mutation phenotype. Some cases of sirenomelia and CD could represent developmental field defects of blastogenesis involving the caudal mesoderm, rather than being related to vascular insufficiency.

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Birth defects associated with perturbations in preimplantation, gastrulation, and axis extension: from conjoined twinning to caudal dysgenesis

Ferrer-Vaquer

Hadjantonakis

2012

WIREs Developmental Biology

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Congenital malformations represent approximately 3 in 100 live births within the human population. Understanding their pathogenesis and ultimately formulating effective treatments is underpinned by knowledge of the events and factors that regulate normal embryonic development. Studies in model organisms, primarily in the mouse, the most prominent genetically tractable mammalian model, have equipped us with a rudimentary understanding of mammalian development from early lineage commitment to morphogenetic processes. In this way information provided by studies in the mouse can, in some cases, be used to draw parallels with other mammals, including human. Here we provide an overview of our current understanding of the general sequence of developmental events from early cell cleavages to gastrulation and axis extension occurring in human embryos. We will also review some of the rare birth defects occurring at these stages, in particular those resulting in conjoined twinning or caudal dysgenesis.

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Caudal regression syndrome—case report and review of literature

Cited by 78 publications

References 27 publications

Lumbopelvic stabilization with external fixator in a patient with lumbosacral agenesis

Lumbopelvic stabilization with external fixator in a patient with lumbosacral agenesis

Caudal dysgenesis, sirenomelia, and situs inversus totalis: A primitive defect in blastogenesis

Birth defects associated with perturbations in preimplantation, gastrulation, and axis extension: from conjoined twinning to caudal dysgenesis

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