Urofacial (Ochoa) Syndrome: Can a Facial Gestalt Represent Severe Voiding Dysfunction?

Urofacial (Ochoa) syndrome is a rare autosomal-recessive disorder that features an unusual “inverted” facial expression, such that patients appear to be crying when they smile. This syndrome also involves serious urinary tract disorders, though the diagnosis may be missed because of variability of these problems and failure to recognize the characteristic facial grimacing. The urinary issues usually result in enuresis, urinary tract infection, and hydronephrosis, and some severely affected patients become hypertensive and progress to end-stage renal disease. Early diagnosis is very important for management of urinary problems and best prognosis in these patients. We report the first published case of urofacial syndrome in Turkey. The patient was diagnosed at 16 years of age, after having been followed with the diagnosis of recurrent urinary tract infection and vesico-ureteral reflux. Physicians should keep this syndrome in mind for any patient who presents with dysfunctional voiding, particularly in countries with high rates of consanguineous marriage.

[1]  J. She,et al.  High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region , 2003, American journal of medical genetics. Part A.

[2]  B. Ochoa.  Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated , 2003, Pediatric Nephrology.

[3]  B. Churchill,et al.  Dysfunctional elimination syndrome in children without obvious spinal cord diseases. , 2001, Pediatric clinics of North America.

[4]  A R Damasio,et al.  Pathological laughter and crying: a link to the cerebellum. , 2001, Brain : a journal of neurology.

[5]  W. Reardon,et al.  Three new European cases of urofacial (Ochoa) syndrome. , 2001, Clinical dysmorphology.

[6]  N. Philip,et al.  Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family. , 2000, American journal of medical genetics.

[7]  C. Y. Wang,et al.  Construction of a physical and transcript map for a 1-Mb genomic region containing the urofacial (Ochoa) syndrome gene on 10q23-q24 and localization of the disease gene within two overlapping BAC clones (<360 kb). , 1999, Genomics.

[8]  M. Ron,et al.  Pathological Laughing and Crying , 1996, The Australian and New Zealand journal of psychiatry.

[9]  A. Teebi,et al.  Urofacial syndrome associated with hydrocephalus due to aqueductal stenosis. , 1991, American journal of medical genetics.

[10]  B. Ochoa,et al.  Urofacial (ochoa) syndrome. , 1987, American journal of medical genetics.

[11]  B. R. Elejalde.  Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: "The Ochoa syndrome". , 1979, American journal of medical genetics.