Presenter
John P. Rossiter
Bio
John Rossiter is a neuropathologist in the Department of Pathology and Molecular Medicine, Queen’s University & Kingston Health Sciences Centre.
Authors and Affiliations
John P. Rossiter, Department of Pathology and Molecular Medicine, Queen’s University, Kingston, ON.
Conflict of Interest
I do not have a relationship with a for-profit and/or a not-for-profit organization to disclose.
Clinical Summary
A healthy 36 year old woman, prima-gravida, underwent termination of pregnancy of a male fetus at 18 weeks gestational age, following ultrasound detection of absence of the right lower limb, pyelectasis and a two vessel umbilical cord. Fetal autopsy showed multiple anomalies including; complete absence of the right lower limb, vertebral and pelvic skeletal abnormalities, imperforate anus, intestinal malrotation, right hydronephrosis and absence of the right umbilical and iliac arteries. The skin of the back and the dorsal vertebral arch was intact along the length of the spine. Dissection revealed abrupt termination of the spinal cord, without an identifiable typical conus, approximately at level of junction of the lumbar and sacral spine.
Discussion points
- The most likely broad category/ies of the anomalies in this case?
- The most plausible pathogenesis/es of the spinal cord abnormalities?
Reveal Diagnosis
- Caudal regression syndrome.
- Disruption of secondary neurulation + sequelae of agenesis of right lower limb.
Additional relevant investigations and comment.
Historical case from 2000. No significant abnormalities were identified in the brain. Cytogenetic analysis (CTG banding) showed
a 46,XY karyotype, with no consistent chromosomal abnormalities detected at the level of resolution achieved.
References (optional)
1. Warner T et al. Caudal regression syndrome – a review focusing on genetic associations. World Neurosurgery, 2020;
138:461-467.
https://www.sciencedirect.com/science/article/pii/S187887502030526X?via%3Dihub
2. Kumar Y et al. Caudal regression syndrome: a case series of a rare congenital anomaly. Polish Journal of Radiology, 2017;
82:188-192.
https://www.polradiol.com/Caudal-Regression-Syndrome-A-Case-Series-of-a-Rare-Congenital-Anomaly,187434,0,2.html
3. Tonni G et al. Clinical presentations and diagnostic imaging of VACTERL association. Fetal and Pediatric Pathology, 2023;
42(4):651-674.
https://www.tandfonline.com/doi/10.1080/15513815.2023.2206905?url_ver=Z39.88-
2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub%20%200pubmed
4. Shannon P, Das S & Fisher Y. Atlas of Neurodevelopmental Pathology, Springer 2026.
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