Presentation
Term newborn, son of a diabetic mother without glycemic control or prenatal control. Physical examination at birth shows a short intergluteal groove, abnormally positioned anus, and bilateral clubfoot.
Patient Data
Image through the thoracolumbar spine shows a conus medullaris located high, at the height of 12th thoracic vertebral body, of abnormal morphology, with abrupt wedge-shaped termination.
Image through the sacral spine shows abnormal morphology of the caudal end of the vertebral column, truncated at the height of 2nd sacral vertebral body which is hypoplastic and abnormally projected dorsally.
Image through the sacral spine, distal to 2nd sacral vertebral body, showed the absence of the caudal sacrum with an apparent normal iliac bones position.
Partial sacral agenesis, 1st sacral vertebral body articulates to form the iliac bones and 2nd sacral vertebral body is hypoplastic.
Partial sacral agenesis, 1st sacral vertebral body articulates to form the iliac bones and 2nd sacral vertebral body is hypoplastic.
Case Discussion
Caudal regression syndrome (CRS) is a rare congenital malformation, with an incidence of 1:7500 pregnancies, occurring in 1:350 children of diabetic women 1. Its etiology is unclear; however, maternal diabetes, genetic alterations, the consumption of teratogens by the mother, and vascular hypoperfusion would be some of the factors involved 2.
Its clinical expression ranges from asymptomatic agenesis of the coccyx to sacral or lumbosacral agenesis involving the corresponding spinal cord segments, which can be associated with congenital malformations of the central nervous system, musculoskeletal, gastrointestinal, genitourinary, anorectal and heart diseases 3.
In the postnatal period, ultrasound plays a fundamental role in the diagnosis. It allows a detailed assessment of the paravertebral soft tissues, the bony and cartilaginous components of the vertebral column and the spinal cord, making it possible in the CSR to determine various degrees of lumbosacral agenesis or dysgenesis, assess for narrowing of the spinal canal and the caudal end of the spine, which is usually truncated; Regarding the conus medullaris, ultrasound allows assessment of its configuration and location, either with a blunt or wedge-shaped termination and located above L1 or an elongated conus medullaris anchored to a thick terminal filum or intraspinal lipoma that ends in below L1. The study of associated lesions, such as closed spinal dysraphisms and various alterations of the spinal cord, is also possible by ultrasound; however, it must be complemented with radiography, tomography, and magnetic resonance imaging to evaluate the extension of the lesions and the possible malformations of other associated systems 3,4.