Polytopic anomalies with agenesis of the lower vertebral column

Abstract

We describe clinical, pathological and radiological findings in 15 cases of sporadic and familial lower spine agenesis with additional anomalies of the axial skeleton and internal organs and speculate about the cause and pathogenesis of this malformation complex. We show that all of these findings are defects of blastogenesis, originate in the primary developmental field and/or the progenitor fields, thus representing polytopic field defects. This concept appears applicable in our cases and makes such terms such as "caudal regression syndrome" or "axial mesodermal dysplasia spectrum" redundant.

Caudal dysgenesis in islet‐1 transgenic mice

“…The most common abnormalities in diabetic embryopathy are neural tube and heart defects (3), with caudal regression syndrome particularly characteristic (4). This syndrome is now recognized as caudal dysgenesis (5) and comprises a spectrum of growth anomalies, malformations of interior organs, and deformities or lack of skeletal structures, in particular, defects of variable portions of the lumbar spine and absence of the sacrum.…”

Perosomus elumbis in a stillborn rhesus macaque (Macaca mulatta): A case report

“…In humans, spinopelvic disassociation is more often reported in cases of stillbirth and infant mortality . Histologic findings common to CRS and PE include myelodysplasia of the caudal spinal cord, hydromyelia, and replacement of musculature with adipose tissue . Some other congenital malformations associated with CRS include imperforate anus, hemivertebrae, kyphosis, pulmonary hypoplasia, hydrocephalus , costal dysplasia, diaphragmatic hernia, and cardiovascular defects (dextrocardia, ventricular septal defects, atrial septal defects, and patent ductus arteriosus) .…”

“…The etiology of PE is not known and likely multifactorial; however, in Holstein cattle there is thought to be a strong heritable compo- while in most reported cases of CRS the caudal spine is fused to some portion of pelvis. In humans, spinopelvic disassociation is more often reported in cases of stillbirth and infant mortality [15][16][17] . Histologic findings common to CRS and PE include myelodysplasia of the caudal spinal cord, hydromyelia, and replacement of musculature with adipose tissue 1,9,15 8,10 .…”

“…In humans, spinopelvic disassociation is more often reported in cases of stillbirth and infant mortality [15][16][17] . Histologic findings common to CRS and PE include myelodysplasia of the caudal spinal cord, hydromyelia, and replacement of musculature with adipose tissue 1,9,15 8,10 . While the degree of disability and dysfunction depend heavily on the level of the defect and extra-axial malformations, even severely affected patients frequently retain some sensory ability in their lower limbs 9 .…”

Role of environmental factors in axial skeletal dysmorphogenesis

“…Maternal diabetes is known to have many teratogenic effects. Malformations including neural tube defects, caudal dysgenesis, and vertebral defects among many other congenital defects are described in infants of diabetic mothers (Finnell and Dansky, 1991; Martinez‐Frias et al, 1998; Bohring et al, 1999; Aberg et al, 2001). The extreme axial defect, caudal regression syndrome, occurs 200 times more frequently in diabetic pregnancies than in normal pregnancies.…”