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Logo of bmcurolBioMed Centralsearchsubmit a manuscriptregisterthis articleBMC Urology
 
BMC Urol. 2012; 12: 2.
Published online Jan 10, 2012. doi:  10.1186/1471-2490-12-2
PMCID: PMC3268711
Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report
Ioannis Vakalopoulos,corresponding author1 Spyridon Kampantais,1 Panagiotis Dimopoulos,1 Christos Papastavros,1 and Vasileios Katsikas1
1A Urologic Department of Aristotle University of Thessaloniki, "G.Gennimatas" General Hospital, 41 Ethnikis Aminis Str, Thessaloniki 54635, Greece
corresponding authorCorresponding author.
Ioannis Vakalopoulos: vakalj/at/otenet.gr; Spyridon Kampantais: kabspir/at/hotmail.com; Panagiotis Dimopoulos: dimopoulospanos/at/yahoo.gr; Christos Papastavros: cpdcmn2/at/yahoo.gr; Vasileios Katsikas: urolauth/at/med.auth.gr
Received May 12, 2011; Accepted January 10, 2012.
Abstract
Background
Frontometaphyseal dysplasia, or Gorlin-Cohen syndrome, is an X-linked disorder primarily characterized by skeletal dysplasia, such as hyperostosis of the skull and abnormalities of tubular bone modeling. Some patients develop extraskeletal manifestations, such as urinary tract anomalies.
Case presentation
A 26-year-old male patient was diagnosed with frontometaphyseal dysplasia and suffered from chronic urine retention. Although the patient was primarily diagnosed with a neurogenic bladder, our work-up revealed posterior urethral valves, bladder neck stenosis, and multiple bladder stones. The patient was treated by transurethral resection of the urethral valves and bladder neck with simultaneous open cystolithotomy to remove the bladder calculi. After removal of the catheter, the patient voided normally and had no post-void residual urine. At the 1-year follow-up, he was still voiding normally; his urodynamic investigation was also normal.
Conclusions
In the recent literature, there is scarce information on the diagnosis, treatment, and follow-up of patients with malformations of the urinary tract as a result of Gorlin-Cohen syndrome. The case presented here could guide urological approaches to patients suffering from this rare condition.
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