EN
Urofacial Syndrome (Ochoa Syndrome) : A Case Report Ürofasiyal Sendrom (Ochoa Sendromu) : Olgu Sunumu
Abstract
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.
Keywords
References
- 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.
Details
Primary Language
English
Subjects
Health Care Administration
Journal Section
Conference Paper
Publication Date
December 10, 2019
Submission Date
January 1, 2020
Acceptance Date
January 16, 2020
Published in Issue
Year 2019 Volume: 7 Number: Ek
APA
Gürhan, G., Ataş, B., & Pişkin, M. (2019). Urofacial Syndrome (Ochoa Syndrome) : A Case Report Ürofasiyal Sendrom (Ochoa Sendromu) : Olgu Sunumu. Pediatric Practice and Research, 7(Ek), 173-175. https://izlik.org/JA55YK65JD
AMA
1.Gürhan G, Ataş B, Pişkin M. Urofacial Syndrome (Ochoa Syndrome) : A Case Report Ürofasiyal Sendrom (Ochoa Sendromu) : Olgu Sunumu. pediatr pract res. 2019;7(Ek):173-175. https://izlik.org/JA55YK65JD
Chicago
Gürhan, Gülüzar, Bülent Ataş, and Mesut Pişkin. 2019. “Urofacial Syndrome (Ochoa Syndrome) : A Case Report Ürofasiyal Sendrom (Ochoa Sendromu) : Olgu Sunumu”. Pediatric Practice and Research 7 (Ek): 173-75. https://izlik.org/JA55YK65JD.
EndNote
Gürhan G, Ataş B, Pişkin M (December 1, 2019) Urofacial Syndrome (Ochoa Syndrome) : A Case Report Ürofasiyal Sendrom (Ochoa Sendromu) : Olgu Sunumu. Pediatric Practice and Research 7 Ek 173–175.
IEEE
[1]G. Gürhan, B. Ataş, and M. Pişkin, “Urofacial Syndrome (Ochoa Syndrome) : A Case Report Ürofasiyal Sendrom (Ochoa Sendromu) : Olgu Sunumu”, pediatr pract res, vol. 7, no. Ek, pp. 173–175, Dec. 2019, [Online]. Available: https://izlik.org/JA55YK65JD
ISNAD
Gürhan, Gülüzar - Ataş, Bülent - Pişkin, Mesut. “Urofacial Syndrome (Ochoa Syndrome) : A Case Report Ürofasiyal Sendrom (Ochoa Sendromu) : Olgu Sunumu”. Pediatric Practice and Research 7/Ek (December 1, 2019): 173-175. https://izlik.org/JA55YK65JD.
JAMA
1.Gürhan G, Ataş B, Pişkin M. Urofacial Syndrome (Ochoa Syndrome) : A Case Report Ürofasiyal Sendrom (Ochoa Sendromu) : Olgu Sunumu. pediatr pract res. 2019;7:173–175.
MLA
Gürhan, Gülüzar, et al. “Urofacial Syndrome (Ochoa Syndrome) : A Case Report Ürofasiyal Sendrom (Ochoa Sendromu) : Olgu Sunumu”. Pediatric Practice and Research, vol. 7, no. Ek, Dec. 2019, pp. 173-5, https://izlik.org/JA55YK65JD.
Vancouver
1.Gülüzar Gürhan, Bülent Ataş, Mesut Pişkin. Urofacial Syndrome (Ochoa Syndrome) : A Case Report Ürofasiyal Sendrom (Ochoa Sendromu) : Olgu Sunumu. pediatr pract res [Internet]. 2019 Dec. 1;7(Ek):173-5. Available from: https://izlik.org/JA55YK65JD