201402-08

LETTER TO THE EDITOR

“Elephant-Trunk Shaped” Urethral Deformity in a Young Man with

Marfan Syndrome

To the Editor,

A 30-year-old man was diagnosed as having Marfan syndrome since childhood. Because of cardiac valve problems, he underwent aortic valve replacement in 2003. Aortic dissection developed after the surgery, and he underwent surgical repairment twice, in 2005

and 2007. After his last surgery for aortic dissection in 2007, lumbar ischemia and paraplegia developed so he was unable to stand and void by himself. Therefore, he had to perform clean intermittent self-catheterization six times a day. However, recurrent urinary tract infection occurred starting in July 2010. After a discussion with his family doctor, he received a long-term Foley indwelling.

Figure 1 (A) Computed tomography of the abdomen and pelvis shows displacement of the Foley balloon inside the urethra. (B) A dilated penile and bulbar urethra like an “elephant-trunk” is found in the cystogram. (C) Cystoscopy shows a bulging space at the penile and bulbar urethra.

Conflicts of interest: All authors declare no conflicts of interest.

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He presented in our emergency room because of fever and bilateral flank pain in September 2011. In the emergency room, his complete

blood count showed leukocytosis, but other laboratory

testsdincluding serum electrolytes, blood sugar, and creatini-nedwere normal. Abdominal ultrasound revealed bilateral

hydro-nephrosis and hydroureter. Contrast-enhanced computed

tomography of the abdomen and pelvis showed displacement of the Foley balloon inside the urethra (Figure 1A). A dilated penile and bulbar urethra like“elephant-trunk” was found in the cysto-gram (Figure 1B). Urethra diverticulum or duplication was highly suspected. The cystoscopy showed a bulging space at the penile and bulbar urethra with two small diverticula at 12 o’clock and 7 o’clock positions (Figure 1C). Biopsies were done at the divertic-ulum and showed chronic in_{flammatory change without} malig-nancy. Because of the difficulty encountered with the Foley replacement procedure, we performed a suprapubic cystostomy for the patient. One month later, bilateral hydronephrosis and hydroureter were totally resolved according to the follow-up sonogram.

Marfan syndrome is a connective tissue disorder with possible FBN1 gene defect on chromosome 15 with autosomal dominant in-heritance.1It can cause improper formation of the extracellular ma-trix and mainly affects the skeletal, eye, cardiovascular, lung, and central nervous systems.2,3The patient often presents with long slender limbs with longfingers and toes, early onset of glaucoma, valve problem, aortic aneurysm and dissection, and occasionally spontaneous pneumothorax. Only a few reports have described genitourinary symptoms in Marfan’s syndrome patients. Female patients may develop urinary incontinence and pelvic organ pro-lapse.4 Some cases presented with renal vascular hypertension, microhematuria, and proteinuria.5,6 A few cases about bladder diverticulum and absence of bilateral renal vessels at birth were re-ported.7The common urethral deformities are epispadia, urethral duplications, anterior urethral valves, or megalourethra. No previ-ous studied showed urethral deformity in young men with Marfan syndrome. Our case presentation has established the possibility that connective tissue abnormalities could contribute to severe

urethra deformity, whether it is congenital or acquired. In our case, we could not identify the actual cause of the deformity. If congenital issues are considered, it may be attributable to urethral diverticulum or incomplete urethral duplication. Regarding iatro-genic reasons, long-term intermittent catheterization with inade-quate Foley insertion may cause repeated urethral trauma.

In patients with Marfan syndrome, genitourinary problems have rarely been discussed. When these patients complain of acute urine retention with insertion of the Foley catheter, a potential weakness of the urethra wall due to connective tissue abnormality should be observed. Displacement and urethra trauma could happen. For pa-tients who require long-term catheter indwelling, it may be more appropriate to use suprapubic cystostomy to avoid urethral trauma or renal function deterioration.

References

1. Al Kaissi A, Zwettler E, Ganger R, Simone S, Klaushofer K, Grill F. Musculo-skel-etal abnormalities in patients with Marfan syndrome. Clin Med Insights Arthritis Musculoskelet Disord 2013;6:1e9.

2. Bhatia T, Kapoor A, Kumar S. Marfan’s syndrome. Heart Views 2012;13:22e3. 3. Mema V, Qafa N. Ocular complications of marfan syndrome. Report of two cases.

Hippokratia 2010;14:45e7.

4. Carley ME, Schaffer J. Urinary incontinence and pelvic organ prolapse in women with Marfan or Ehlers Danlos syndrome. Am J Obstet Gynecol 2000;182:1021e3. 5. O’Doherty NJ. Neonatal Marfan’s syndrome with malformation of the urinary

tract. Proc R Soc Med 1996;59:483.

6. Wightman JA. Genito-urinary aspects of Marfan’s syndrome with case report. Br J Urol 1963;35:143e6.

7. Ohkoshi M, Iki Y, Takamura M, Kondo M. Marfan’s syndrome and diverticula of the bladder. Nihon Hinyokika Gakkai Zasshi 1962;53:573e81 [In Japanese].

Wei-Tang Kao, Kuan-Chou Chen, Chia-Chang Wu, Chia-Hung Liu, Yi-Te Chiang* Department of Urology, Taipei Medical University e Shuang Ho Hospital, Taipei, Taiwan *_{Corresponding author. Yi-Te Chiang.} E-mail: Y.-T. Chiang <emilchiang@gmail.com>.

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