Clinical and Radiological Characterization of an Infant with Caudal Regression Syndrome Type III

Abstract

Caudal regression syndrome is a rare disorder of developmental failure of lumbosacral vertebra and corresponding spinal cord during notochord formation. The severity varies from absent coccyx to complete absence of lumbosacral vertebra and caudal spinal cord. Both genetic and environmental factors are believed to play roles in aetiopathogenesis of caudal regression. The authors report a two-month-old child born to a diabetic mother, in whom the diagnosis of caudal regression syndrome type III was confirmed based on clinical and radiological characteristics. The child was managed by the multidisciplinary team to continue supportive care and screen and monitor for long-term complications. The long-term prognosis for mobility was less favourable given the presence of bilateral hip dysplasia and involvement of lumbar vertebra in addition to sacral agenesis.

Caudal regression syndrome from radiology and clinical perspective: A case series and a proposed new integrated diagnostic algorithm

“…However, the exact incidence of each type is not well-established due to the rarity and wide variability of the disorder. Some literature suggests that partial sacral agenesis with symmetrical defects of the ilia and first sacral vertebrae is a common form of CRS [14] .…”

“…Spinal brace, sub-throchanteric amputations with pelvic thoracic prosthesis, or spino-pelvic fusion without or with multilevel pedicular screw fixation were options reported in various literatures [3 , 5 , 12 , 15 , 16] . The latest was associated with an increased quality of life by improving core body stability and spinal sagittal balance [4 , 14] . The spino-pelvic fusion may improve intestinal transit, posture, sitting position, and allow stretching contractures that may be resulted from a more effective physiotherapy in a stable spino-pelvic condition.…”

Caudal regression syndrome without maternal diabetes mellitus

“…CRS is very rare and occurs in approximately 1:100 000 live births 1 2. Th embryogenesis at 4–7 weeks of life is characterised by failure of development of the lumbosacral vertebra and caudal spinal cord due to defects in the development of the caudal mesoderm and the structures that it ultimately forms 3…”

“…1 Maternal diabetes is a major risk factor for developing CRS presenting as sacral agenesis syndrome and hypoplasia of the lower extremities. 2 3 This defect is thought to occur during the fourth to seventh week of embryogenesis as a result of impaired development of the mesoderm. 3 …”

“…The anomalies of the distal spinal segment can range from sacral agenesis, genital malformation, cardiac anomalies, pulmonary hypoplasia or aplasia, renal dysplasia or aplasia, anomalies of the lower extremities including arthrogryposis and anorectal malformation 1. Maternal diabetes is a major risk factor for developing CRS presenting as sacral agenesis syndrome and hypoplasia of the lower extremities 2 3. This defect is thought to occur during the fourth to seventh week of embryogenesis as a result of impaired development of the mesoderm 3…”