Caudal regression syndrome

Case contributed by Aldo Saldaña
Diagnosis certain

Presentation

Neurodevelopmental disorder, chronic constipation and urinary incontinence.

Patient Data

Age: 8 years
Gender: Female
mri

Conus medullaris elongates at L4 with tethered cord from an intradural spinal lipoma involving up to the filum terminale. Sacral vertebral body and arch dysgenesis with coccyx agenesis. Rectum dilatation and bladder wall thickening.

Case Discussion

Caudal regression syndrome represents a series of malformations of the inferior spinal anatomy. It is a life quality conditioning syndrome which affects multiple central nervous structures and peripheral pathways that compromise the autonomy of the gastrointestinal and musculoskeletal functionality associated. Actual imaging findings by magnetic resonance and its clinical impairments characterize this case and current follow up is by our institution.

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