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Clinical History

A 22-year-old male patient with a congenital pelvic deformity has been complaining of urinary incontinence. On examination, atrophic gluteal muscles could be seen. His past medical history was remarkable of frequent urinary infections.

Imaging Findings

In voiding cystourethrogram (VCUG) images, the coccyx and distal part of the sacrum were not visualised, suggesting caudal regression syndrome (Figure 1a). Evidence of vesicoureteral reflux is seen bilaterally, more prominent on the left side (grade 3 vesicoureteral reflux (VUR)) and grade 1 on the right side (Figure 1b). Both ureters are inserted into the prostatic segment of the urethra along with the segmental urethral dilatation (Figure 1c). In coronal and sagittal T2W magnetic resonance urography (MRU) images, distal segments of the sacrum and coccyx are absent, suggesting caudal regression syndrome (Figures 2a and 2b). The conus medullaris terminates normally at the L1 level (Figure 2b). In addition, the right kidney is not visualised, and the left kidney shows compensatory hypertrophy (Figure 2a). Coronal T2W MR images show both ureters are terminated at the dilated prostatic segment of the urethra (ectopic right side ureteral insertion in Figures 3a and 3b, and left side insertion in Figure 3c).

Discussion

Background

Caudal regression syndrome (CRS) is defined by different varieties of structural impairments in the caudal spinal part of the body. This condition happens approximately in 1–2 per 100,000 live births. It is associated with a wide range of multisystemic anomalies [1]. Its precise aetiology is not known, but maternal diabetes is thought to be associated with this syndrome [2].

Clinical Perspective

Individuals with CRS can have other pathologies in different parts of their body, such as deformities in the lower extremities, spinal abnormalities, renal maldevelopment, ectopic kidneys, abnormal bladder function (neurogenic), and undeveloped anogenital organs [3].

According to a study assessing 21 patients with CRS, the occurrence of neurogenic bladder, bilateral hydroureteronephrosis, and hypoplastic uterus (Müllerian agenesis type I) was in seventeen (81%), five (23.8%) and one (4.8%) patient respectively. Moreover, in nine patients (42.9%) diagnosed with an imperforated anus, eight (38.1%) had anorectal stenosis, and one (4.8%) had anal stenosis [4]. Another study reported a patient with CRS for the first time who also had vaginal atresia (in distal parts of the genital system), presenting with periodical lower stomach pain [5]. In another study, the most common urologic disorders found in the CRS population were neurogenic bladder (60%), kidney agenesis (13%–20%), and reduced renal function (8%–12%) [6].

Additionally, CRS patients complaining of back pain and bowel incontinence should be investigated for possible tethered cord syndrome (with the help of radiologic findings) [7].

Imaging Perspective

CRS can be divided into two main groups. In group 1, there is an abrupt spinal cord termination together with a club-shaped cord ending. Group 2 has a less severe presentation, and the sacrum is partially well-preserved. Group 1 patients often have major morbidities, including lower limb deformities, and bladder and bowel dysfunctions [9].

Inappropriate crown-rump length, a protrusion of the lower part of spine and an exceeded nuchal translucency may be the first signs of CRS in ultrasonography images [4,8].

MRI is considered as a pivotal imaging modality in demonstrating of the vertebra-spinal anomalies and associated concomitant defects, such as urinary, genital, anorectal, and spinal cord anomalies [4].

Due to a high incidence of neurogenic bladder (60%) in affected patients with CRS, all of them should be investigated for bladder function and urinary tract obstruction [6].

Outcome

Being familiar with such co-existing anomalies can lead to a well-organised screening program in the affected population, which can detect the respective pathologies before causing further damage, and also can help with rectifying the associated defects [4].

Take Home Message / Teaching Points

The occurrence of the other related pathologies is not constantly connected with the severity of the vertebral column malformation; hence, medical team members should check for possible coexisting abnormalities.

Two of the most prevalent co-morbidities are genitourinary and anorectal impairments, which should be assessed in all caudal regression syndrome cases.

MRI is a vastly helpful imaging modality in determining such concomitant pathologies and also has an important role in distinguishing defects without obvious outward signs.

Differential Diagnosis List

Caudal regression syndrome and associated urinary system malformations

Segmental spinal dysgenesis (SSD)

Sirenomelia

Final Diagnosis

Caudal regression syndrome and associated urinary system malformations

Liscense

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Figures

Voiding cystourethrogram (VCUG)

In voiding cystourethrogram (VCUG) images, the coccyx and distal part of the sacrum are not visualised, suggesting caudal regression syndrome (black arrow). In addition, a sacral nerve stimulator is inserted in the upper midline pelvis.

In voiding cystourethrogram (VCUG) images, evidence of vesicoureteral reflux is seen bilaterally, more prominent on the left side (grade 3 VUR) (black arrow) and grade 1 on the right side (red arrow).

In voiding cystourethrogram (VCUG) images, both ureters are inserted into the prostatic segment of the urethra along with the segmental urethral dilatation (black and red arrow).

T2W magnetic resonance urography (MRU)

In coronal T2W MRU images, the right kidney is not visualised, and the left kidney shows compensatory hypertrophy (black arrow).

In sagittal T2W MRU images, distal segments of the sacrum and coccyx are absent, suggesting caudal regression syndrome (green arrow). The conus medullaris terminates normally at the L1 level.

T2W magnetic resonance urography (MRU)

In coronal T2W MRU images, both ureters are terminated at the dilated prostatic segment of the urethra (ectopic ureteral insertion) (black arrows indicating left ureter insertion and red arrows pointing to right ureter).

Medical Analysis Report

Medical Imaging Analysis Report

I. Imaging Findings

Based on the provided X-ray and MRI images, the following key features are noted:

Abnormal Sacral Structure: Partial absence or dysplasia of certain sacral segments, presenting as incomplete or deformed sacral development, with poor continuity between the lower lumbar spine and the sacrum.
Pelvic Morphology Abnormalities: The pelvic anteroposterior (AP) view shows asymmetric pelvic morphology and congenital deformation, with abnormal relationships between both iliac or ischial bones.
Changes in the Terminal Spinal Cord: On the sagittal MRI, the conus medullaris is positioned higher than normal, and the distal spinal canal is shortened. Some patients may show a “conical” or “bulbous” terminal spinal cord.
Adjacent Soft Tissue Issues: Atrophy of the gluteal muscles is observed. T1/T2 MRI signal intensity indicates reduced soft tissue volume in that region, with no obvious signs of occupying lesions or inflammatory changes.
Urinary System Abnormalities: On coronal and axial MRI, the kidneys may appear in abnormal positions or shapes; the bladder is significantly enlarged or does not empty well, suggesting possible neurogenic bladder.

II. Potential Diagnoses

Considering the clinical history (congenital pelvic deformities, urinary incontinence, recurrent urinary tract infections) and the above imaging findings, the following diagnoses are possible:

Caudal Regression Syndrome (CRS): This is a congenital malformation of the sacrococcygeal spine that may involve the nervous system, urinary system, and lower limb deformities. Imaging often reveals sacral absence or dysplasia, as well as neurogenic bladder and lower extremity muscle atrophy.
Tethered Cord Syndrome: Clinically, it can present with lumbosacral deformities, lower limb sensory or motor deficits, and bladder or bowel dysfunction. MRI may show a low-lying conus or tethering structures such as lipomas or fibrous bands pulling on the terminal spinal cord. It must be differentiated from CRS.
Spina Bifida or Occult Spina Bifida: Certain types of spina bifida can also present with sacral defects or deformities of the sacral canal, though MRI often reveals intradural or extradural soft tissue partitions. Clinical features may include urinary dysfunction, but frequently with characteristic fissure manifestations.

III. Final Diagnosis

Considering the 22-year-old male patient, congenital pelvic deformities, sacral dysplasia, gluteal muscle atrophy, and urinary symptoms (urinary incontinence, recurrent urinary tract infections), along with imaging evidence of significant spinal terminal and sacral abnormalities, the most fitting diagnosis is:

Caudal Regression Syndrome (CRS).

Should there be uncertainties regarding additional structural anomalies (such as possible spinal cord tethering, degree of renal anatomical variations, etc.), further investigations such as contrast-enhanced MRI or urodynamic examinations may be conducted to confirm the final diagnosis.

IV. Treatment Plans and Rehabilitation

The primary goals for this patient’s treatment and rehabilitation can be divided into the following areas:

Neurogenic Bladder Management:
- Regular or intermittent catheterization to reduce the risk of urinary tract infections. Surgical interventions such as bladder augmentation or reconstruction can be considered if necessary.
- If significant urodynamic abnormalities are found, medication (e.g., anticholinergics) or bladder functional reconstruction surgery may be warranted under specialist supervision.
Correction of Skeletal and Spinal Deformities:
- If severe pelvic, spinal, or lower limb deformities significantly compromise function, corrective surgeries such as spinal stabilization and fusion or lower limb reconstructive procedures may be considered.
- Postoperative use of braces or lower limb orthoses is necessary to maintain proper alignment and posture.
Rehabilitation Training and Exercise Prescription:
- Early Stage (Strength, Flexibility, and Basic Functional Training):
  · Perform lower limb strength and stability exercises 3-4 times weekly, with relatively mild intensity (e.g., resistance band exercises, stability ball exercises);
  · Each session lasts 15-20 minutes, with rest and adjustment based on fatigue level;
  · Focus on correcting pelvic and lumbar spine posture, and use physiotherapy techniques to relieve muscle spasms or weakness.
- Intermediate Stage (Endurance and Core Control):
  · Under the supervision of the attending physician or physical therapist, gradually increase exercise duration to 20-30 minutes per session, emphasizing core muscle stability;
  · Introduce low-impact aerobic activities (e.g., aquatic therapy, water walking, stationary cycling) 2-3 times per week, adjusting heart rate and intensity according to the patient’s cardiopulmonary capacity;
  · Gradually increase intensity and frequency, while ensuring the spine and pelvis are protected from excessive load.
- Late Stage (Functional Training and Comprehensive Exercise):
  · Combine daily activity needs, focusing on balance training, gait correction, and improving lower limb flexibility;
  · Integrate strengthening exercises with proprioception training 3-5 times per week at low intensities;
  · Follow up with neurology or orthopedics rehabilitation to monitor lower limb muscle strength and bowel/bladder function recovery, adjusting training according to progress.
Other Considerations:
- Regular follow-up examinations and imaging to promptly detect any complications or hidden lesions.
- Pay attention to bone health management, supplement Vitamin D and calcium if necessary, and prevent falls, torsion, or sprains that might cause fractures during exercise.
- Address psychological support, as long-term functional impairment and chronic conditions may lead to psychological stress—quality of life should be a priority.

Disclaimer: The above report is a reference medical analysis based on currently available information and does not replace an in-person consultation or professional medical advice. For any further questions, please consult a relevant specialist and make diagnostic and treatment decisions based on the patient’s actual condition.

Human Doctor Final Diagnosis

Caudal regression syndrome and associated urinary system malformations

AI Doctor