Peter L Hughes

Klippel-Feil syndrome – the risk of cervical spinal cord injury: A case report

BackgroundKlippel-Feil syndrome is defined as congenital fusion of two or more cervical vertebrae and is believed to result from faulty segmentation along the embryos developing axis during weeks 3–8 of gestation. Persons with Klippel-Feil syndrome and cervical stenosis may be at increased risk for spinal cord injury after minor trauma as a result of hypermobility of the various cervical segments. Persons with Klippel-Feil Syndrome often have congenital anomalies of the urinary tract as well.Case presentationA 51-year male developed incomplete tetraplegia in 1997 when he slipped and fell backwards hitting his head on the floor. X-rays of cervical spine showed fusion at two levels: C2 and C3 vertebrae, and C4 and C5 vertebrae. Intravenous urography (IVU) revealed no kidneys in the renal fossa on both sides, but the presence of crossed, fused renal ectopia in the left ilio-lumbar region. This patient had a similar cervical spinal cord injury about 15 years ago, when he developed transient numbness and paresis of the lower limbs following a fall.Discussion and Conclusion1) Persons with Klippel-Feil syndrome should be made aware of the increased risk of sustaining transient neurologic deterioration after minor trauma if there is associated radiographic evidence of spinal stenosis.2) Patients with Klippel-Feil syndrome often have congenital anomalies of the urinary tract. Our patient had crossed, fused, ectopia of kidney.3) When patients with Klippel-Feil syndrome sustain tetraplegia they have increased chances of developing urinary tract calculi. Treatment of kidney stones may pose a challenge because of associated renal anomalies.4) Health professionals caring for cervical spinal cord injury patients with Klippel-Feil syndrome and renal anomalies should place emphasis on prevention of kidney stones. A large fluid intake is recommended for these patients, as a high intake of fluids is still the most powerful and certainly the most economical means of prevention of nephrolithiasis.

Problems in early diagnosis of bladder cancer in a spinal cord injury patient: Report of a case of simultaneous production of granulocyte colony stimulating factor and parathyroid hormone-related protein by squamous cell carcinoma of urinary bladder

BackgroundTypical symptoms and signs of a clinical condition may be absent in spinal cord injury (SCI) patients.Case presentationA male with paraplegia was passing urine through penile sheath for 35 years, when he developed urinary infections. There was no history of haematuria. Intravenous urography showed bilateral hydronephrosis. The significance of abnormal outline of bladder was not appreciated. As there was large residual urine, he was advised intermittent catheterisation. Serum urea: 3.5 mmol/L; creatinine: 77 umol/L. A year later, serum urea: 36.8 mmol/l; creatinine: 632 umol/l; white cell count: 22.2; neutrophils: 18.88. Ultrasound: bilateral hydronephrosis. Bilateral nephrostomy was performed. Subsequently, blood tests showed: Urea: 14.2 mmol/l; Creatinine: 251 umol/l; Adjusted Calcium: 3.28 mmol/l; Parathyroid hormone: < 0.7 pmol/l (1.1 – 6.9); Parathyroid hormone-related protein (PTHrP): 2.3 pmol/l (0.7 – 1.8). Ultrasound scan of urinary bladder showed mixed echogenicity, which was diagnosed as debris. CT of pelvis was interpreted as vesical abscess. Urine cytology: Transitional cells showing mild atypia. Bladder biopsy: Inflamed mucosa lined by normal urothelial cells.A repeat ultrasound scan demonstrated a tumour arising from right lateral wall; biopsy revealed squamous cell carcinoma. In view of persistently high white cell count and high calcium level, immunohistochemistry for G-CSF and PTHrP was performed. Dense staining of tumour cells for G-CSF and faintly positive staining for C-terminal PTHrP were observed. This patient expired about five months later.ConclusionThis case demonstrates how delay in diagnosis of bladder cancer could occur in a SCI patient due to absence of characteristic symptoms and signs.

Silent hydronephrosis/pyonephrosis due to upper urinary tract calculi in spinal cord injury patients.

Study design: A study of four patients with spinal cord injury (SCI) in whom a diagnosis of hydronephrosis or pyonephrosis was delayed since these patients did not manifest the traditional signs and symptoms.Objectives: To learn from these cases as to what steps should be taken to prevent any delay in the diagnosis and treatment of hydronephrosis/pyonephrosis in SCI patients.Setting: Regional Spinal Injuries Centre, Southport, UK.Methods: A retrospective review of cases of hydronephrosis or pyonephrosis due to renal/ureteric calculus in SCI patients between 1994 and 1999, in whom there was a delay in diagnosis.Results: A T-5 paraplegic patient had two episodes of urinary tract infection (UTI) which were successfully treated with antibiotics. When he developed UTI again, an intravenous urography (IVU) was performed. The IVU revealed a non-visualised kidney and a renal pelvic calculus. In a T-6 paraplegic patient, the classical symptom of flank pain was absent, and the symptoms of sweating and increased spasms were attributed to a syrinx. A routine IVU showed non-visualisation of the left kidney with a stone impacted in the pelviureteric junction. In two tetraplegic patients, an obstructed kidney became infected, and there was a delay in the diagnosis of pyonephrosis. The clinicians attention was focused on a co-existent, serious, infective pathology elsewhere. The primary focus of sepsis was chest infection in one patient and a deep pressure sore in the other. The former patient succumbed to chest infection and autopsy revealed pyonephrosis with an abscess between the left kidney and left hemi-diaphragm and xanthogranulomatous inflammation of perinephric fatty tissue. In the latter patient, an abdominal X-ray did not reveal any calculus but computerised axial tomography showed the presence of renal and ureteric calculi.Conclusions: The symptoms of hydronephrosis may be bizarre and non-specific in SCI patients. The symptoms include feeling unwell, abdominal discomfort, increased spasms, and autonomic dysreflexia. Physicians should be aware of the serious import of these symptoms in SCI patients.

Barriers to implementing intermittent catheterisation in spinal cord injury patients in Northwest Regional Spinal Injuries Centre, Southport, U.K.

Intermittent catheterisation is the preferred method of managing the neurogenic bladder in patients with spinal cord injury. However, spinal cord physicians experienced problems when trying to implement an intermittent catheterisation regime in some spinal cord injury patients in the northwest of England. We present illustrative cases to describe practical difficulties encountered by patients while trying to adopt an intermittent catheterisation regime. Barriers to intermittent catheterisation are (1) caregivers or nurses are not available to carry out five or six catheterisations a day; (2) lack of time to perform intermittent catheterisations; (3) unavailability of suitable toilet facilities in public places, including restaurants and offices; (4) redundant prepuce in a male patient, which prevents ready access to urethral meatus; (5) urethral false passage; (6) urethral sphincter spasm requiring the use of flexible-tip catheters and α-drenoceptor–blocking drugs; (7) reluctance to perform intermittent catheterisation in patients >60 years by some health professionals; and (8) difficulty in accessing the urethral meatus for catheterisation while the patient is sitting up, especially in female patients. These cases demonstrate the urgent need for provision of trained caregivers who can perform intermittent catheterisation, and improvement in public facilities that are suitable for performing catheterisation in spinal cord injury patients. Further, vigilance should be exercised during each catheterisation in order to prevent complications, such as urethral trauma and consequent false passages. Health professionals should make additional efforts to implement intermittent catheterisation in female spinal cord injury patients and in those >60 years.

Long-term result of Memokath urethral sphincter stent in spinal cord injury patients

BackgroundMemokath urethral sphincter stents are used to facilitate bladder emptying in patients with spinal cord injury, but long term follow-up has not been reported.MethodsCase series of ten men with spinal cord injury who underwent insertion of Memokath stents and were followed for up to nine years.ResultsWithin four years, the stent had to be removed in nine out of ten patients because of: extensive mucosal proliferation causing obstruction to the lumen of the stent; stone around the proximal end of the stent, incomplete bladder emptying, and recurrent urinary infections; migration of the stent into the bladder related to digital evacuation of bowels; large residual urine; concretions within the stent causing obstruction to flow of urine, and partial blockage of the stent causing frequent episodes of autonomic dysreflexia. In one patient the stent continued to function satisfactorily after nine years.ConclusionsThe Memokath stent has a role as a temporary measure for treatment of detrusor-sphincter dyssynergia in selected SCI patients who do not get recurrent urinary infection and do not require manual evacuation of bowels.

Delayed complications of discontinuation of intrathecal baclofen therapy: resurgence of dyssynergic voiding, which triggered off autonomic dysreflexia and hydronephrosis

Study design: Case report.Objectives: To report insidious development of autonomic dysreflexia and hydronephrosis due to dyssynergic voiding following discontinuation of intrathecal baclofen therapy.Setting: Regional Spinal Injuries Centre, Southport, UK.Methods: A male patient with paraplegia at T-5 (ASIA-A) had implantation of Medtronic Synchromed 8615 s programmable pump to control intractable spasms. After 4 years, the baclofen pump needed replacement because of battery exhaustion. At this time, he was taking oxybutynin 2.5 mg twice a day. He wore a penile sheath and performed intermittent catheterisation three times a day. Intravenous urography showed no dilatation of pelvicalyceal systems or ureters. During the course of the next 4 months, the dose of baclofen had to be increased gradually to 820 μg/day in order to control the spasms. Investigations revealed disconnection of the tube from the pump. The patient decided to undergo explantation of the pump and discontinue intrathecal baclofen therapy altogether. Following removal of the pump, he was prescribed baclofen 20 mg four times a day and diazepam 5 mg twice a day. He continued penile sheath drainage with oxybutynin 2.5 mg twice a day. Although spasms were controlled with oral baclofen and diazepam, he started getting transient, mild headache during reflex voiding. After nearly 2 years, he developed unbearable and pounding headache while passing urine.Results: The dose of oxybutynin was increased to modified release formulation, 20 mg, once daily. He was prescribed modified release alfuzosin 10 mg once a day. Indwelling urethral catheter drainage was instituted. Intravenous urography showed dilation of left renal pelvis and calyces, and left ureter. After a fortnight, the dose of modified release oxybutynin was increased further to 25 mg once a day. After a month, he started performing self-catheterisation every 3 h and symptoms of autonomic dysreflexia subsided completely. A follow-up intravenous urography performed 6 months later, showed normal appearances of the left kidney.Conclusion: Spinal cord injury patients, in whom intrathecal baclofen therapy is terminated, need close monitoring of their urological status. Medications, which are prescribed for neuropathic bladder, and the method of bladder drainage, may need suitable changes, as discontinuation of intrathecal baclofen therapy can result in reappearance of detrusor-sphincter dyssynergia in previously susceptible patients.

Recurrent vesical calculi, hypercalciuria, and biochemical evidence of increased bone resorption in an adult male with paraplegia due to spinal cord injury : is there a role for intermittent oral disodium etidronate therapy for prevention of calcium phosphate bladder stones?

Study design:Clinical case report with comments by colleagues from Sweden, Poland, Spain, Brazil, Japan, Belgium and Switzerland.Objectives:To discuss the role of disodium etidronate therapy for prevention of calcium phosphate vesical calculi in persons with spinal cord injury, who have hypercalciuria and biochemical evidence of increased bone resorption.Setting:Regional Spinal Injuries Centre, Southport, UK.Methods:A 21-year-old male sustained paraplegia (T-10; ASIA scale: A) in a road traffic accident in June 2001. He had an indwelling urethral catheter until the end of August 2001, when he started self-catheterisation. He developed bladder stones and electrohydraulic lithotripsy (EHL) was performed in May 2002. All stone fragments were removed. Recurrence of vesical calculi was noted in October 2002. These stones were fragmented by lithoclast lithotripsy in two sessions, in December 2002 and February 2003; all stone fragments were removed at the end of the second session. This patient reverted to indwelling catheter drainage when vesical calculi recurred. In September 2003, X-ray of the abdomen showed recurrence of vesical calculi. By February 2004, the stones had increased in size and number. EHL of vesical calculi was again performed in April 2004. Complete clearance was achieved.Results:A 24-h urinalysis detected hypercalciuria – 18.7 mmol/day (reference range: 2.5–7.5). Biochemical analysis of vesical calculus revealed calcium phosphate (85%) and magnesium ammonium phosphate (15%). Plasma C-terminal telopeptide (CTX) was increased – 1.06 ng/ml (reference range: 0.1–0.5 ng/ml). Free deoxypyridinoline/creatinine ratio (fDPD/Cr) in urine was also increased – 20.2 (reference range: 2.3–5.4). In April 2004, this patient was prescribed disodium etidronate 400 mg day. Nearly 3 months after commencing therapy with etidronate, plasma CTX decreased to 0.87 ng/ml. fDPD/Cr in urine also decreased to 12.4. After 4 months of etidronate therapy, 24-h urinary calcium excretion had decreased to 6.1 mmol/day.Conclusion:Etidronate (400 mg daily) is a very effective inhibitor of calcium phosphate crystallisation. Etidronate decreased urinary excretion of calcium, an important factor in prevention of calcium phosphate bladder stones. Etidronate therapy is not a substitute for other well-established methods for prevention of vesical calculi in spinal cord injury patients, for example, large fluid intake, avoiding long-term catheter drainage. Intermittent therapy with etidronate may be considered in selected patients, in whom hypercalciuria persists after instituting nonpharmacological therapy for an adequate period, for example, early mobilisation, weight-bearing exercises, and functional electrical stimulation. However, possible side effects of etidronate, and the fact that etidronate is not licensed in United Kingdom for prevention of urolithiasis, should be borne in mind.

Do spinal cord injury patients always get the best treatment for neuropathic bladder after discharge from regional spinal injuries centre

Objective: To draw attention to inadequate care received by some spinal cord injury patients after discharge from the regional spinal injury center.Setting: Regional Spinal Injuries Centre, Southport, UK.Methods: Presence of the urethral stricture was not recognised in a 69-year-old male with T-3 paraplegia, who attended a health-care facility with a urinary infection. A Foley catheter was inserted into the urethra only half-way and the catheter balloon was then inflated in the urethra distal to the stricture. In a 68-year-old male with T-8 paraplegia, a long-term indwelling catheter was eroding the urethra and he developed a severe degree of hypospadias while being managed in the community. A 49-year-old male with C-4 tetraplegia developed recurrent urine infections. He received several courses of antibiotics, which were prescribed by community health professionals. But he continued to be unwell. Subsequently, the patient was admitted to a district general hospital, where he was diagnosed to have mild chest infection and was about to be sent home. However, his wife was not happy, and then ultrasound of abdomen was taken, which revealed pyonephrosis. He was then transferred to a spinal unit.Results: These patients were not seen promptly in a regional spinal injury centre when they developed medical problems. The complications, which ensued, might have been prevented if expert medical treatment had been provided without delay.Conclusion: In order to meet the needs of a growing population of persons living in the community with spinal cord injury, more beds are required in spinal units. Provision of day surgery wards within spinal units, out-reach clinics and home visits by spinal cord clinicians may reduce the demand for admission in a spinal unit. Education of community health professionals on delayed complications of spinal cord injury, and good communication between spinal cord clinicians, patients, carers, and community health professionals by telephone, e-mail or conventional postal system are likely to improve the care of spinal cord injury patients after discharge from spinal injury centres. Spinal cord clinicians should adopt a patient-centred care instead of the traditional, paternalistic, doctor-centred care.

Localised necrosis of scrotum (Fournier's gangrene) in a spinal cord injury patient – a case report

BackgroundMen with spinal cord injury (SCI) appear to have a greater incidence of bacterial colonisation of genital skin as compared to neurologically normal controls. We report a male patient with paraplegia who developed rapidly progressive infection of scrotal skin, which resulted in localised necrosis of scrotum (Fourniers gangrene).Case presentationThis male patient developed paraplegia at T-8 level 21 years ago at the age of fifteen years. He has been managing his bladder by wearing a penile sheath. He noticed redness and swelling on the right side of the scrotum, which rapidly progressed to become a black patch. A wound swab yielded growth of methicillin-resistant Staphylococcus aureus (MRSA). Necrotic tissue was excised. Culture of excised tissue grew MRSA. A follow-up wound swab yielded growth of MRSA and mixed anaerobes. The wound was treated with regular application of povidone-iodine spray. He made good progress, with the wound healing gradually.ConclusionIt is likely that the presence of a condom catheter, increased skin moisture in the scrotum due to urine leakage, compromised personal hygiene, a neurogenic bowel and subtle dysfunction of the immune system contributed to colonisation, and then rapidly progressive infection in this patient. We believe that spinal cord injury patients and their carers should be made aware of possible increased susceptibility of SCI patients to opportunistic infections of the skin. Increased awareness will facilitate prompt recourse to medical advice, when early signs of infection are present.

Bladder stones - red herring for resurgence of spasticity in a spinal cord injury patient with implantation of Medtronic Synchromed pump for intrathecal delivery of baclofen - a case report.

BackgroundIncreased spasms in spinal cord injury (SCI) patients, whose spasticity was previously well controlled with intrathecal baclofen therapy, are due to (in order of frequency) drug tolerance, increased stimulus, low reservoir volume, catheter malfunction, disease progression, human error, and pump mechanical failure. We present a SCI patient, in whom bladder calculi acted as red herring for increased spasticity whereas the real cause was spontaneous extrusion of catheter from intrathecal space.Case PresentationA 44-year-old male sustained a fracture of C5/6 and incomplete tetraplegia at C-8 level. Medtronic Synchromed pump for intrathecal baclofen therapy was implanted 13 months later to control severe spasticity. The tip of catheter was placed at T-10 level. The initial dose of baclofen was 300 micrograms/day of baclofen, administered by a simple continuous infusion. During a nine-month period, he required increasing doses of baclofen (875 micrograms/day) to control spasticity. X-ray of abdomen showed multiple radio opaque shadows in the region of urinary bladder. No malfunction of the pump was detected. Therefore, increased spasticity was attributed to bladder stones. Electrohydraulic lithotripsy of bladder stones was carried out successfully. Even after removal of bladder stones, this patient required further increases in the dose of intrathecal baclofen (950, 1050, 1200 and then 1300 micrograms/day). Careful evaluation of pump-catheter system revealed that the catheter had extruded spontaneously and was lying in the paraspinal space at L-4, where the catheter had been anchored before it entered the subarachnoid space. A new catheter was passed into the subarachnoid space and the tip of catheter was located at T-8 level. The dose of intrathecal baclofen was decreased to 300 micrograms/day.ConclusionVesical calculi acted as red herring for resurgence of spasticity. The real cause for increased spasms was spontaneous extrusion of whole length of catheter from subarachnoid space. Repeated bending forwards and straightening of torso for pressure relief and during transfers from wheel chair probably contributed to spontaneous extrusion of catheter from spinal canal in this patient.