Introduction: Infants born with caudal regression (CR) may have serious multisystem abnormalities that require prompt attention in the neonatal period. The presence of a closed neural tube defect (NTD) that can lead to future neurological deterioration may be overlooked.
Materials and methods: An IRB-approved retrospective review was conducted among patients with CR and a closed NTD that underwent neurosurgical operative intervention between 1996 and 2012 at a single institution.
Results: Twenty-two patients who met the above criteria were identified. Of this group, 13 were identified and surgically addressed in the first year of life; however, nine additional children were diagnosed with a closed NTD after a year of age with progressive neurological deterioration. Of the entire group, none had any cutaneous markers that are often seen with a closed NTD.
Conclusion: The frequent finding of a closed NTD associated with major CR abnormalities, even in the absence of any cutaneous markers for dysraphism, recommends that infants with CR undergo a MRI screening in early infancy to exclude the presence of a closed NTD.