Caudal regression syndrome

Presentation

Hip deformity, urinary incontinence and lower limb weakness.

Patient Data

Age: 5 years
Gender: Male
x_ray

Absent lower sacrum and coccyx. No hip dislocations or subluxation seen. Some bowel loops appear distended.

mri

Partial agenesis of sacral vertebrae and posterior elements from S4 to coccyx with vertebral segmentation anomalies; there is a continuity of the sacral epidural space fat with pelvic fat.
The spinal cord is seen at L2 and shows the usual signal intensity.
In addition, the bladder shows increase in longitudinal diameter causes by a dilated rectum.

Case Discussion

According to Sharma et al, caudal regression syndrome is a rare congenital abnormality in which a segment of the lumbo-sacral spine and spinal cord fails to develop, which is part of a spectrum of disorders of caudal vertebral agenesis or dysgenesis. The incidence is 1 to 5 cases in 100,000 births. The severity of the morphologic derangement inversely correlates with residual spinal cord function.

Unsinn et al, describe caudal regression syndrome as a spectrum of anomalies of the caudal end of the trunk. Malformations vary from isolated partial agenesis of the sacrococcygeal spine to more severe deformities like sirenomelia. Is due to abnormal retrogressive differentiation of the developing spine and spinal cord as well as disturbance of the caudal mesoderm, with failed development of the lumbar and sacral spine.

This case demonstrates features of caudal regression syndrome.

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