Early detection of this syndrome is possible through the peculiar faces that children present. Urofacial Syndrome occurs due to either disruption or mutation of a gene on chromosome 10q23q24. [en.wikipedia.org]

Mild cases may simply present with the characteristic facial findings and mild or at times no urinary tract issues. [doi.org]

Clinical description Patients with Ochoa syndrome present with incontinence, urinary tract infection and hydronephrosis. Voiding dysfunction is the result of an obstructive uropathy. [orpha.net]

We present radionuclide renogram and renal scan of a boy with a history of incontinence, frequent infections of the urinary tract, and gene mutations consistent with this syndrome. [ncbi.nlm.nih.gov]

• Crying

  When attempting to smile, the child will appear to cry. Urinary problems arise as a result of a neurogenic bladder. [en.wikipedia.org]

  Patients with this syndrome have urinary tract infection, hydronephrosis, hydroureter and voiding dysfunctions resulting from neurogenic bladder, together with a peculiar inverted facial expression, mainly when smiling or crying. [ncbi.nlm.nih.gov]

  Cause(s) : Mutation or disruption of a gene Symptoms : Infants exhibit an inverted smile, appear to be crying Uropathy (disease of the urinary system) Hydronephrosis (Water retention inside the kidney) If undiagnosed, death in teenage or early 20s, due [medindia.net]

• Enuresis

  […] at the time of diagnosis. [2] Although rare, this disorder has to be considered in the differential diagnosis of enuresis in children with recurrent urinary tract infections and residual urine. [doi.org]

  Page 365 - The genetics of enuresis. In: Kolvin I, MacKeith RC, Meadow SR (eds): Bladder control and enuresis. ‎ [books.google.com]

  Between 1965 and 1986 we saw 36 children with enuresis and urinary tract infection in association with "inversion" of facial expression when laughing. [ncbi.nlm.nih.gov]

• Recurrent Urinary Tract Infection

  […] at the time of diagnosis. [2] Although rare, this disorder has to be considered in the differential diagnosis of enuresis in children with recurrent urinary tract infections and residual urine. [doi.org]

  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. [ncbi.nlm.nih.gov]

  Recurrent urinary tract infections (UTI). When a person doesn’t empty the bladder completely, or often enough, it might cause bacteria to remain in the body, resulting in frequent or recurring UTIs. Urge syndrome (overactive bladder). [denverurology.com]

  Case 3: A 9-year-old Caucasian female was referred to the urologic clinic for evaluation of daytime and nocturnal urinary incontinence, urgency and recurrent urinary tract infection. [brazjurol.com.br]

• Recurrent Infection

  To prevent recurrent infections, especially in the case of vesicoureteral reflux, the treatment can also include an antibiotic prophylaxis. [en.wikipedia.org]

• Persistent Vomiting

  A 12-year-old boy of Middle-Eastern origin presented to outpatient department of our hospital with left flank pain, dysouria, fever (up to 38.5ºC), persistent vomiting (hyperemesis) and severe dehydration for four days. [doi.org]

• Left Flank Pain

  A 12-year-old boy of Middle-Eastern origin presented to outpatient department of our hospital with left flank pain, dysouria, fever (up to 38.5ºC), persistent vomiting (hyperemesis) and severe dehydration for four days. [doi.org]

• Recurrent Abdominal Pain

  There was no history of recurrent abdominal pain or fatty meal intolerance. The family tree of the study patient is indicated in [Figure - 1]. [sjkdt.org]

• Lagophthalmos

  Murat Mermerkaya, Evren Süer, Erdem Öztürk, Ömer Gülpınar, Mehmet İlker Gökçe, Fatime Nilüfer Yalçındağ, Tarkan Soygür and Berk Burgu, Nocturnal lagophthalmos in children with urofacial syndrome (Ochoa): A novel sign, European Journal of Pediatrics, 10.1007 [doi.org]

  Nocturnal lagophthalmos in children with urofacial syndrome (Ochoa): a novel sign. Eur J Pediatr. 2014;173:661-665. http://www.ncbi.nlm.nih.gov/pubmed/24248520 Woolf AS, Stuart HM, Roberts NA, et al. [rarediseases.org]

• Facial Grimacing

  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. [ncbi.nlm.nih.gov]

  A 5-year-old boy, born of nonconsanguineous marriage presented with characteristic facial grimace, enuresis, constipation and delayed milestones. [eprints.manipal.edu]

  It is likely that they may be missed because of variability of the urinary problems and failure to recognize the characteristic facial grimacing. [journals.lww.com]

• Hyperreflexia

  Initially, detrusor hyperreflexia is associated with sphincter dyssinergia, however, in advanced cases, myogenic detrusor failure may ultimately result (6). [brazjurol.com.br]

• Nocturnal Enuresis

  Total genome scan analysis in a single extended family for primary nocturnal enuresis: evidence for a new locus (ENUR3) for primary nocturnal enuresis on chromosome 22q11. Eur Urol. 1998; 33 Suppl 3:34–6. [ CrossRef ] [ Google Scholar ] 31. [e-sciencecentral.org]

  The term commonly is associated with nighttime wetting, but it is important to distinguish nocturnal enuresis from diurnal enuresis or daytime wetting. [pedsinreview.aappublications.org]

  Bedwetting (nocturnal enuresis). Nighttime wetting occurs when a child cannot control urination while sleeping. Common among young children, after age 5 nocturnal enuresis is considered abnormal. Constipation. [denverurology.com]

  According to the existent literature, the first signs of the disorder are the recurrent urinary tract infections, nocturnal enuresis and constipation while in most of the cases patients have severe obstructive symptoms and significant bladder dysfunction [doi.org]

  Bedwetting (also called nocturnal enuresis): This is when a sleeping child cannot control his/her urination at night. This problem begins to be considered abnormal after the age of five. [my.clevelandclinic.org]

• Kidney Failure

  and eventual kidney failure. [rarediseases.info.nih.gov]

  Vesicoureteral reflux and hydronephrosis can lead to frequent infections of the urinary tract and kidney inflammation (pyelonephritis), causing damage that may eventually result in kidney failure. [ghr.nlm.nih.gov]

  The urinary problems associated with the condition, which typically become apparent in early childhood or adolescence, may include incontinence, inability to completely empty the bladder, urinary tract infections, hydronephrosis, and eventual kidney failure [diseaseinfosearch.org]

  You may have problems with urination if you have Kidney failure Urinary tract infections An enlarged prostate Bladder control problems like incontinence, overactive bladder, or interstitial cystitis A blockage that prevents you from emptying your bladder [medlineplus.gov]

• Dysuria

  Urinary voiding dysfunction in childhood, manifesting as incontinence, dysuria, and urinary frequency, is a common condition. [ncbi.nlm.nih.gov]

  UFS is a rare disease characterized by detrusor-sphincter discoordination (with the characteristic symptomatology consisting of recurrent urinary infections, incontinence, constipation, dysuria, frequency, and enuresis) in children and young adolescents [doi.org]

  […] failure; syndrome; facies Int Braz J Urol. 2005; 31: 477-81 INTRODUCTION In the early 1960s, Bernardo Ochoa followed a group of children with the characteristic symptomatology of neurogenic bladder (recurrent urinary infection, incontinence, constipation, dysuria [brazjurol.com.br]

• Flank Pain

  A 12-year-old boy of Middle-Eastern origin presented to outpatient department of our hospital with left flank pain, dysouria, fever (up to 38.5ºC), persistent vomiting (hyperemesis) and severe dehydration for four days. [doi.org]

• Urinary Hesitancy

  Urinary hesitancy, dribbling, intermittent urine flow and/or straining at urination Pain in the back, lower side, or abdomen Returning urinary tract infections Blood in the urine Infrequent urination or three or fewer voids in a 24-hour period Constipation [my.clevelandclinic.org]

During workup a comprehensive metabolic panel and a complete blood count were normal. An arterial blood gas showed mild acute respiratory alkalosis. An electrocardiogram showed normal sinus rhythm. Troponin levels were within normal limits. [casereports.in]

The diagnostic workup including an MRI scan of the head and cervical spine, along with orthodontic assessment is recommended in these patients. RES appears generally refractory to medical treatments. [thejournalofheadacheandpain.springeropen.com]

(See Presentation and Workup .) [emedicine.medscape.com]

• Normocytic Anemia

  The haemoglobin level was 5.8 g/dL, peripheral smear showed normochromic normocytic anemia. [indianpediatrics.net]

• Base Deficit

  deficit 9.4; total bilirubin 5 µmol/L, total protein 80 g/L (60-80), albumin 34 g/L, alkaline phosphatase 225 U/L, alanine aminotransferase 27 U/L (20-65), aspartate aminotransferase 30 U/L (20-65), gammaglutamyl transferase 9 U/L (5-55), cholesterol [sjkdt.org]

• Anisocytosis

  Peripheral blood film for red blood cell (RBC) morphology showed only slight anisocytosis with hypochromia. Urinalysis showed: nitrite negative, WBC 2000/HPF and urine culture grew E-coli >100,000 colonies/ml. [sjkdt.org]

• Bladder Trabeculation

  Cystoscopy revealed bladder trabeculation however an anatomic urethral obstruction was not noticed. Both, neurological examination and radiography of the lumbosacral spine were normal. [doi.org]

  bladder (recurrent urinary infection, incontinence, constipation, dysuria, frequency, enuresis, bladder trabeculation and vesicoureteral reflux) with no apparent neurological or obstructive abnormality. [brazjurol.com.br]

Management and treatment Treatment is symptomatic and involves bladder re-education, antibiotic prophylaxis, anticholinergic therapy and alpha-blockers. Intermittent catheterization may be needed. Constipation should be treated. [orpha.net]

To prevent recurrent infections, especially in the case of vesicoureteral reflux, the treatment can also include an antibiotic prophylaxis. [en.wikipedia.org]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

The early institution of prophylactic treatment in these cases may prevent the subsequent development of urinary tract deterioration. [doi.org]

Thus, the treatment should not be behavioral but indeed similar to the treatments we use for neurogenic bladder of other etiologies, the effectiveness of which has been proven beyond question. [journal.frontiersin.org]

Early diagnosis is crucial for the management and prognosis of urinary problems due to a dysfunctional bladder. We report 11 patients with urofacial syndrome in five families from Turkey with a median follow up of 32 months (range, 2-44 months). [ncbi.nlm.nih.gov]

The inverted facial expression presented by children with this syndrome allows for early detection of the syndrome, which is vital for establishing a better prognosis as urinary related problems associated with this disease can cause harm if left untreated [en.wikipedia.org]

Establishing an early diagnosis has important consequences for the management and prognosis of urinary problems in these patients. a Department of Paediatrics, Hospital de Cruces, Barakaldo, Spain b Our Lady's Hospital for Sick Children, Crumlin, Dublin [journals.lww.com]

Etiology A potential gene has been mapped to chromosome 10q23-q24. Diagnostic methods Diagnosis may be suspected following recognition of the peculiar facial expression during infancy. [orpha.net]

List organic etiologies that can contribute to enuresis. Discern which patients who have dysfunctional voiding require referral to a specialist. [pedsinreview.aappublications.org]

The etiology of the urofacial syndrome is unknown. In our case, a 12-year-old boy of Middle-Eastern origin presented to the Outpatient Department of our hospital with left pyelonephritis, hydronephrosis and bladder dilatation. [doi.org]

Thus, the treatment should not be behavioral but indeed similar to the treatments we use for neurogenic bladder of other etiologies, the effectiveness of which has been proven beyond question. [journal.frontiersin.org]

Summary Epidemiology Over 100 patients have been described so far. Clinical description Patients with Ochoa syndrome present with incontinence, urinary tract infection and hydronephrosis. Voiding dysfunction is the result of an obstructive uropathy. [orpha.net]

Here we review the clinical presentation, diagnosis, epidemiology, pathophysiology, and the problem of impairment rating in RSD. Case Presentation A 45-year-old female injured her right shoulder. [practicalpainmanagement.com]

Epidemiologic and clinical characteristics of acute diarrhea with emphasis on entamoeba hystolitica infections in preschool children in an urban slum of Dhaka, Bangladesh. J Trop Med Hyg 2003;69:398-405. Robin-Browne RM, Levine MM. [saripediatri.org]

An epidemiological study of enuresis in Korean children. BJU Int. 2000; 85:869–73. [ CrossRef ] [ Google Scholar ] 2. Kajiwara M, Inoue K, Kato M, Usui A, Kurihara M, Usui T. [e-sciencecentral.org]

Epidemiology DVT affects as many as 2 million Americans every year. The majority of patients are treated medically, with anticoagulation being the mainstay of therapy to promote thrombus resolution and prevent propagation and embolization. [emedicine.medscape.com]

The pathophysiological mechanisms underlying RES are currently unclear. [thejournalofheadacheandpain.springeropen.com]

Here we review the clinical presentation, diagnosis, epidemiology, pathophysiology, and the problem of impairment rating in RSD. Case Presentation A 45-year-old female injured her right shoulder. [practicalpainmanagement.com]

Koff SA, Mutabagani KH, Jayanthi VR: The valve bladder syndrome: pathophysiology and treatment with nocturnal bladder emptying. [brazjurol.com.br]

Alcohol withdrawal syndromes: a review of pathophysiology, clinical presentation and treatment. J Gen Intern Med 1989; 4: 432-434. World Health Organization. Problems related to alcohol consumption. Technical reports, Series nº 650. Ginebra 1980. [adicciones.es]

Pathophysiology In PAD, the thrombosis involves only major deep venous channels of the extremity, thus sparing collateral veins. The venous drainage is decreased but still present; the lack of cyanosis differentiates this entity from PCD. [emedicine.medscape.com]

This can be prevented by taking proper measures to restore normal micturition and by taking antibiotics to prevent infections. [en.wikipedia.org]

The early institution of prophylactic treatment in these cases may prevent the subsequent development of urinary tract deterioration. [doi.org]

Early diagnosis and treatment are essential in order to prevent upper urinary tract deterioration and renal failure. The documents contained in this web site are presented for information purposes only. [orpha.net]

EARLY DIAGNOSIS OF THE UROFACIAL SYNDROME IS ESSENTIAL TO PREVENT IRREVERSIBLE RENAL FAILURE ( Download pdf ) FRANCISCO A. [brazjurol.com.br]