Jonah Murdock, MD PhD Mid Atlantic Urology Associates July 2011

 Understand the relationship between Ehlers- Danlos syndrome, tethered cord syndrome, and neurogenic bladder  Define the role for Urodynamics in diagnosing tethered cord

 Sequela of deformative stress injury to distal spinal cord  Nerves serving the pelvis (e.g. bladder) and lower extremities do not function due to deformative stress  with Ehlers-Danlos more common than previously thought  Urologic symptoms ◦ Not specific & frequently not acknowledged ◦ Can’t feel when bladder is full ◦ Bladder always feels full ◦ Severe straining and intermittent stream when voiding

 Aufschnaiter (2008) Neurosurg Rev 31(4):371  Literature review (n=386)  Average age of symptom onset 36.5 years  Predominant symptom: pain and weakness lower extemities  Precipitating incident: trauma, excessive physical training

 Potential problems from Ehlers-Danlos:  1) Bladder muscle laxity can cause voiding problems  2) Functional impairment of bladder’s nerves by tethered cord can cause voiding problems

 Ehlers-Danlos Syndrome ◦ Abnormal connective tissue  Associated Genitourinary Abnormalities ◦ Enlarged bladder and bladder diverticuli ◦ Incomplete Bladder Emptying ◦ Enlarged Ureter ◦ Prolapse ◦ Incontinece

 E-D can result in bladder laxity, a large sacculated poorly emptying bladder ◦ Prone to urinary tract infections  Treatment: ◦ Timed voiding ◦ Double voiding to empty bladder ◦ Antibiotic prophylaxis ◦ Surgery: bladder diverticulectomy

Symptoms  Involuntary leakage with coughing and sneezing  Sensation of bulge Treatment: Surgery Use caution due to risk of poor wound healing and recurrence

 How does a tethered cord cause abnormal voiding?  Pelvic and sacral nerves impaired function ◦ Control bladder storage of urine ◦ Control emptying of urine at void  Symptoms ◦ Can’t feel when bladder is full ◦ Bladder always feels full ◦ Severe straining and intermittent stream when voiding

 Bladder filling ◦ Bladder relaxes & ◦ urethral sphincter contracts (to keep urine in)  Bladder emptying ◦ Bladder contracts after ◦ Urethral sphincter relaxes (to let urine out)

 Sacral nerves (S2,S3,S4) control urethral sphincter  Pelvic nerves (parasympathetic system) control bladder contraction  Hypogastric nerve (sympathetic system) control bladder relaxation

 Neurogenic Bladder=abnormal bladder function from sacral and pelvic nerve dysfunction  Detrusor Sphincter Dyssinergia ◦ Sphincter contracts at voiding ◦ Symptoms: hesitancy and straining at void  Hypercontractile Neurogenic Bladder ◦ Bladder contracts during filling ◦ Symptoms: urgency, frequency, incontinence

 Scant literature  Small series  No consensus

 Urodynamics  1) Measure bladder storage (cystometrogram) ◦ bladder compliance, sensation, and capacity  2) Measure voiding ◦ Bladder pressure, urinary flow, coordination of bladder and external sphincter

 Urodynamic abnormality reflects nerve dysfunction ◦ peripheral (e.g.sacral nerve) dysfunction or ◦ central (e.g. cervical spine) nerve dysfuntion  Uncover occult bladder dysfunction  Confirm clinical and radiologic diagnosis  Identify response to treatment

 Measure pressure in the bladder ◦ While it fills ◦ During voiding  Measure pressure of the urinary sphincter ◦ During bladder filling ◦ During voiding  Measure the urinary stream ◦ Force and pattern of the urinary stream at void

 Place pressure sensing catheters in the bladder, the rectum and near the urethral sphincter

Hypercontractile Neurogenic Bladder or Overactive Bladder

Detrusor sphinctor dyssinergia

Large Capacity Hyposensory Bladder

Bladder hypotonia with poor urinary flow pattern

 Scant Literature  Husman (1995) Occult spinal dysraphism (the tethered cord) and the urologist. ◦ There is no typical urologic dysfunction ◦ Treatment is based on urodynamic evaluation

n=20 Symptoms: irritative voiding, incontinence, and retention Most Common Symptoms: urgency (67%) and urge incontinence (50%) Urodynamic findings: detrusor hyperreflexia (72%), Detrusor external sphincter dyssinergia (22%), decreased sensation (17%), decreased compliance (17%), hypocontractile detrusor (11%) Postoperative improvement in only 29% (n=4 pts)

 n=18  Urodynamic findings: “flaccid bladder”50%, “uninhibited bladder” 28%, “mixed bladder dysfunction” 11%, Normal 11%  Postoperative improvement: ◦ Uninhibited bladder resolved in all ◦ Flaccid bladder resolved or improved in 45%

 n=15  93% with abnormal urodynamics ◦ Detrusor areflexia 60%  Postop restoration of bladder function 67%  Poor postoperative function: ◦ If bladder symptoms >3 years ◦ Cutaneous stigma

 n=29  48% had urinary symptoms ◦ 47% had postsurgical improvement of urinary symptoms ◦ Mean time to urinary symptom improvement 4.3 months (vs 1 month for pain improvement)

n=43 Ehlers-Danlos 85% with radiologic evidence of tethered cord Standard symptom questionnaire All with tethered cord symptoms 60% have urologic symptoms Urodynamics performed on all preoperatively

 of Patients with Ehlers-Danlos & tethered cord symptoms:  75% have abnormal urodynamics ◦ 37% hyposensory bladder with retention ◦ 34% hypertonic bladder ◦ 28% detrusor sphincter dyssinergia  25% have normal urodynamics

 Abnormal urodynamics (n=14): ◦ 86% Symptom improvement after surgery ◦ 14% No symptom improvement after surgery  Normal urodynamics (n=3): ◦ 100% symptom improvement ◦ (not all patients with tethered cord have abnormal urodynamics)

Tethered cord surgery results n=13 (Dr. F Henderson)

 1) Surgical detethering: sectioning the filum terminale  2) If residual symptoms after correction of tethered cord:  Detrusor Sphincter Dyssinergia ◦ Medical management: Alpha blocker  Large capacity bladder ◦ Timed voiding  Hypercontractile bladder ◦ Medical management, Anti-muscarinic

 Abnormal urodynamics is present even in the absence of lower urinary tract symptoms in most patients with tethered cord  Most common urodynamic findings are: hypertonic bladder, bladder hypotonia with urinary retention, and detrusor sphincter dysinergia

 Tethered cord is common among properly screened patients with Ehlers Danlos syndrome  Urodynamics is a good predictor alongside clinical symptoms and radiography in diagnosing tethered cord and predicting a good response to surgery

 Dr. Fraser Henderson  Mackenzie Mathis  Jenna Sherry  Dr. Myron Murdock