Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by a defect in deoxyribonucleic acid repair. Along with cutaneous symptoms, neurological symptoms are important clinical features of XP. However, information on neurogenic bladder occurrence among XP cases is rare. Herein, we describe a case of neurogenic bladder in a patient with XP type A (XPA). In this case, low bladder compliance, impaired bladder emptying, and urethral sphincter discoordination were significant cystometric findings, and frequent febrile urinary tract infection was a clinical problem. XPA patients often cannot express their symptoms because of cognitive dysfunction. Close follow-up and assessments are necessary.
Urology case reports. 2019 Aug 20*** epublish ***
Katsuki Tsuchiyama, Yoshitaka Aoki, Hideaki Ito, Makoto Yoneda, Osamu Yokoyama
Division of Urology, Department of Surgery, Faculty of Medical Sciences, University of Fukui, 23-3 Matsuokashimoaizuki, Eiheiji-cho, Yoshida-gun, Fukui, 910-1193, Japan., Faculty of Nursing and Social Welfare Sciences, Fukui Prefectural University, 4-1-1, Kenjojima, Matsuoka, Eiheiji-cho, Yoshida-gun, Fukui, 910-1195, Japan.