Assistant Professor University of Texas Southwestern Medical Center Dallas, Texas, United States
Case Diagnosis: Caudal regression syndrome is a rare congenital disease characterized by abnormal development of the caudal spine with abrupt termination in a blunt-ending spinal cord, ranging in severity from isolated partial agenesis of the coccyx to lumbosacral agenesis. It is sporadic and multifactorial, occurring in 1-5 per 100,000 newborns and to 1 in 350 mothers with diabetes. It can be diagnosed by prenatal ultrasound or MRI in difficult cases. Symptoms range from mild sensorimotor deficits to gastrointestinal, genitourinary, and cardiopulmonary complications.
Case Description: A 32-year-old woman with caudal regression syndrome (T7-10 cord termination, maternal diabetes) with gastrointestinal and genitourinary complications, presented to the PM&R clinic to establish care.
Exam: Hypoplastic bilateral lower extremities with no volitional movement. Sensation intact. Absent voluntary anal contraction.
Function: Mod-I with ADLs and transfers at manual wheelchair level. Uses skateboard for transfers and mobility at home. Graduated high school. Never employed.
Bowel: Imperforate anus at birth requiring surgical creation of anus. Daily fecal incontinence and impaction. Recommended bowel cleanout followed by lower motor neuron bowel program comprising soluble fiber and manual disimpaction.
Bladder: Neurogenic bladder, followed by urology and managed with clean intermittent catheterization, solifenacin for incontinence, and methenamine for UTI prophylaxis.
Dorsal foot callus: W-sitting position in the wheelchair with weight-bearing on the dorsal feet. Recurrent erythema, swelling, and drainage. PT and podiatry referral for foot padding and DME modification.
Discussions: This is the first documented case to discuss rehabilitation management in caudal regression syndrome. Longitudinal, multidisciplinary effort is required to address these patients’ biopsychosocial needs. Physiatrists play a critical role in optimizing functional independence and are well-suited to manage the complex neurogenic bowel and bladder dysfunction in these patients, maximizing their quality of life.
Conclusions: Common themes and concepts of rehabilitation management can be applied in rare diagnoses such as caudal regression syndrome.
