%0 Journal Article
%T Treatment of obstructive uropathy in one of three young brothers suffering from Gorlin-Cohen syndrome: a case report
%A Ioannis Vakalopoulos
%A Spyridon Kampantais
%A Panagiotis Dimopoulos
%A Christos Papastavros
%A Vasileios Katsikas
%J BMC Urology
%D 2012
%I BioMed Central
%R 10.1186/1471-2490-12-2
%X 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.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.Frontometaphyseal dysplasia, also called Gorlin-Cohen syndrome, is a rare hereditary X-linked syndrome initially described in 1969. It encompasses cranial hyperostosis, abnormal tubulation of cylindrical bones, and other skeletal and extraskeletal abnormalities [1]. Obstructive uropathy is a feature of the syndrome in some patients [2]. Although several authors have commented on the presence of this urological complication, no specific evaluation of the symptoms or their treatment has been reported. We herein describe a male patient with typical frontometaphyseal dysplasia and the approach for treatment of his urinary tract malformations.A 26-year-old male patient who had been diagnosed with neurogenic bladder outlet obstruction and bladder stones was referred to our department for treatment. The patient was the youngest of three brothers aged 26, 28, and 30 years. Although the parents were normal, all three boys were homozygotes for frontometaphyseal dysplasia. The patient was unable to void spontaneously; therefore, for the previous 5 years, he
%U http://www.biomedcentral.com/1471-2490/12/2