Urofacial Syndrome (Ochoa Syndrome) : A Case Report Ürofasiyal Sendrom (Ochoa Sendromu) : Olgu Sunumu

Yıl 2019, Cilt: 7 Sayı: Ek - IRUPEC 2019 Kongresi Tam Metin Bildirileri, 173 - 175, 10.12.2019

Gülüzar Gürhan Bülent Ataş Mesut Pişkin

Öz

Urofacial syndrome (US) or Ochoa syndrome is a syndrome characterized by presence of neurogenic bladder (NB) in absence of a neurological abnormality and mechanical obstruction, as well as by a characteristic facial appearance. As the micturition/urine storage center, laughing and crying centers and origin of the facial nerve are in close proximity in the reticular formation, crying facial expression when laughing and clinical presentation of NB are observed. In this manuscript a case who presented with incontinence, was noticed to have crying facial expression when laughing and, unfortunately, developed chronic renal failure (CRF) due to NB is reported.

Anahtar Kelimeler

Incontinence, Urofacial syndrome, İnkontinans, Ürofasiyal sendrom

Kaynakça

• References 1. Ochoa B (2004) Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated. PediatrNephrol 19(1):6–12 2 2. Neil A. Roberts; Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder, Kidney International (2019) 95, 1138–1152 3. Newman WG, Woolf AS, Urofacial syndrome; GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. 2013 Aug 22 4. Farhat W, Bagli D, Capolicchio G, et al. The dysfunctional voiding scoring system: quailtative standardization of dysfunctional voiding symptoms in children. J Urol 2000;164:1011. 5. Akl KF, Al Momany HM, Urofacial Syndrome; Saudi J Kidney Dis Transpl 2012;23(2):346-348 6. Daly SB, Urquhart JE, Hilton E, et al. Mutations in HPSE2 cause urofacial syndrome. Am J Med Genet 2010;86(6):963-9.