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]

Crossref PubMed Scopus (30) Google Scholar, , Functional voiding dysfunction is frequent in a pediatric population: up to 15% of children present urinary dysfunction and the same proportion presents with nocturnal enuresis at the age of 6 years. [kidney-international.org]

Patient 4 was a 13-year-old girl (Figure 2) who presented urgency and enuresis but without any episodes of UTI. [ncbi.nlm.nih.gov]

At the age of 6 she presented with urinary tract infection. [clinmedjournals.org]

• 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]

  Patient 4 was a 13-year-old girl (Figure 2) who presented urgency and enuresis but without any episodes of UTI. [ncbi.nlm.nih.gov]

  Urofacial syndrome Appareil digestif pathologie Appareil urinaire pathologie Homme Incontinence urinaire Intestin pathologie Système nerveux pathologie Traitement Trouble miction Trouble neurologique Vessie pathologie Keyword (en) Adult Constipation Child Enuresis [pascal-francis.inist.fr]

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

  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]

• Fever

  On the following four days his fever persisted at above 37ºC, with spikes up to 38.5ºC during evening hours. Voiding symptoms also persisted. [doi.org]

  Case Report A 10 year old boy was admitted for fever and tachypnea for 10 days. The patient had no other respiratory or cardiac complaints. [indianpediatrics.net]

  Still’s disease is an inflammatory condition characterized by high fevers, rash, sore throat, and joint pain. As it progresses, adult-onset Still’s disease may lead to chronic arthritis and other complications. [checkrare.com]

• 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]

  They present with recurrent urinary tract infections, constipation (and sometimes encopresis) and severe voiding dysfunction. [kidney-international.org]

  Case presentation Here, we report a 6-year-old girl with symptoms such as urinary incontinence, recurrent urinary tract infections, peculiar facial expression, mainly when smiling, hypertelorism, constipation, incomplete closure of eyelids during sleep [degruyter.com]

• Turkish

  Indexing/Abstracting DOAJ, Tübitak/Ulakbim Turkish Medical Database, Academic OneFile, Healt h Reference Center Academic, US National Library of Medicine (NLM) Catalog, INDEX COPERNICUS, Genamics-JournalSeek, DRJI, J-Gate, Google Scholar, Research Bible [pediatricurologycasereports.com]

  J Turkish Ger Gynecol Assoc. 2011;12(2):75-9. Andres R, Kuyper W, Resnik R, Piacquadio K, Benirschke K. The association of maternal floor infarction of the placenta with adverse perinatal outcome. Am J Obstet Gynecol. 1990;163(3):935-8. [ijrcog.org]

  Main foreign languages[edit] Languages spoken by immigrants from recent decades and their descendants include Berber (Riffian), Arabic (Maghrebi), Spanish, Turkish, Portuguese, Italian, Greek, Polish and English. [en.wikipedia.org]

  In a Turkish sample, Boke et al. found that 61.4% of females, but only 22.4% of males, had metabolic syndrome [ 91 ]. [hindawi.com]

• Trisomy 21

  Karyotype helps clinical cytogeneticist to identify abnormalities by: Counting the number of chromosomes and looking for extra chromosome such as in trisomy 21 or missing chromosome in a karyotype such as in Turner syndrome. [books.google.de]

  Ehmer, U (1994) Palatal dimensions and speech development in trisomy 21 patients. [castillomorales.dk]

  Down Syndrome – Trisomy 21 ie having a third copy of Chromosome 21 – features – mental retardation, Simeon creases, low set and round ear, stunted growth Edward Syndrome – Microcephaly, low set ears, vsd/pda/asd, overlapping of 3rd 4th and 5th finger [nclexrnguide.com]

  J Cardiothorac Vasc Anesth. 2007 Apr. 21 (2):203-7. [Medline]. Singh TP, Rohit M, Grover A, Malhotra S, Vijayvergiya R. [emedicine.medscape.com]

• Hypertension

  […] can be found at the Pulmonary Hypertension Association Website. [emedicine.medscape.com]

  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. [ncbi.nlm.nih.gov]

  Page 673 - National High Blood Pressure Education Program Working Group on Hypertension Control in Children and Adolescents: Update on the 1987 task force report on high blood pressure in children and adolescents: A working group report from the National [books.google.com]

  This disease must be diagnosed early in childhood to improve long-term renal prognosis as patients progressively develop renal scarring, chronic kidney disease (CKD) and arterial hypertension: patients diagnosed at school age or later show more severe [kidney-international.org]

  Seen in Alcoholics……Hint……AL inside Mallory gives hint to alcoholism Metabolic Syndrome – Obesity, Hypertension, Type 2 Diabetes, Dyslipidemia Ochoa Syndrome – Hydronephrosis, Abnormal facial expressions, bladder and urinary tract problems…..Hint……the [nclexrnguide.com]

• Lagophthalmos

  Nocturnal lagophthalmos: Partial closing of the eyelids while sleeping, resulting in dry eyes while awakening. 2. [icliniq.com]

  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 (incomplete closing of the eyes during sleep) appears to be a common and significant finding [2]. UFS was first described in several unrelated Colombian families (Elejalde, 1979; Ochoa and Gorlin, 1987). [clinmedjournals.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]

• Prolapse

  Rectal Prolapse: Slipping off of the lower portion of the large intestine through the anus is called rectal prolapse. It is caused due to the stretching of the rectum. 3. [icliniq.com]

  Focus on today's hot topics in urology, including stress and mixed urinary incontinence; prolapse therapy; therapy for overactive bladder; and targeted therapy for renal cell carcinoma. [books.google.de]

  […] columnar epithelium – Hint – Barrets Oesophagus Brown Sequard Syndrome – Loss of pain and temperature sensation on one side and loss of proprioception and discriminatory touch on ipsilateral side – Hint – Brown Touched Sequard Barlow Syndrome – Mital valve prolapse [nclexrnguide.com]

• Suggestibility

  […] and respiratory nuclei, somewhere in the upper pons and midbrain.[11] Evidence strongly suggests that facial expression is under central nervous system control at brainstem level. [tandfonline.com]

  Although bladder augmentation and intermitted catheterization were suggested, patient's parents refused any intervention and the boy was discharged home. [doi.org]

  A micturating cystourethrogram showed features suggestive of neurogenic bladder. [indianpediatrics.net]

  This suggests a peripheral disorder in facial muscle control. Two thirds of patients have anal sphincter abnormalities. Aberrant organisation of the facial motor and urinary-anal sphincter nuclei may explain these symptoms. [ncbi.nlm.nih.gov]

• Irritability

  Eliminating bladder irritants. Physicians sometimes recommend patients drink more water and avoid irritating substances, such as carbonated beverages, citrus juices, caffeine and chocolate. Managing constipation. [denverurology.com]

  […] nerves that control bladder or urinary sphincter function) Endocrine or kidney diseases that affect the urinary tract (diabetes, chronic kidney disease) Genetic diseases that affect the urinary tract (Ochoa syndrome, Williams syndrome) Infections or irritations [my.clevelandclinic.org]

  “It’s more common with increased body weight, which often occurs as we get older, and acid reflux, the latter of which causes irritation and a narrowing of the esophagus. [nextavenue.org]

  Irritable Bowel Syndrome – Functional bowel disorder characterised by abdominal discomfort, bloating, alteration of bowel habits in absence of any detectable organic cause Kartagners Syndrome – Situs Inversus – Lateral transposition of lungs caused by [nclexrnguide.com]

  Thereafter, he was referred for urologic evaluation and was found to have a long history of irritative and obstructive voiding symptoms. At this time he had elevated creatinine and urea. [brazjurol.com.br]

• Behavior Problem

  Cleveland Clinic Children’s Hospital medical and behavioral specialists offer comprehensive evaluation and treatment of bedwetting, day wetting, painful voiding, and other problems in the Pediatric Voiding Dysfunction Clinic. [my.clevelandclinic.org]

  This syndrome was long thought to be the results of behavioral problems triggered by psychological trauma. [frontiersin.org]

• Incontinence

  Enuresis Urgency 4 60 8 13 F No Urgency No No 5 32 9 12 M No UTI Left kidney Yes Left nephrectomy + bladder augmentation Incontinence Kidney 6 24 7 16 M No Incontinence Yes No Mitrofanoff Enuresis Bladder augmentation Renal transplant Patient 2 was a [ncbi.nlm.nih.gov]

  […] fr) Adulte Constipation Enfant Enurésie Etude cas Exploration clinique Exploration Mimique Radiodiagnostic Syndrome complexe Urographie Vessie neurogène Ochoa syndrome Urofacial syndrome Appareil digestif pathologie Appareil urinaire pathologie Homme Incontinence [pascal-francis.inist.fr]

  The patient complained of urgency and with associated urge incontinence which has been initially considered as symptoms of acute pyelonephritis. [doi.org]

• Kidney Failure

  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. [rarediseases.oscar.ncsu.edu]

  These conditions lead to further complications, such as pyelonephritis (inflammation of the kidney) and kidney failure. Nocturnal lagophthalmos: Partial closing of the eyelids while sleeping, resulting in dry eyes while awakening. 2. [icliniq.com]

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

  These problems often start in early childhood or adolescence and may lead to eventual kidney failure. [rarediseases.org]

  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 [globalgenes.org]

• Urinary Incontinence

  Urinary Problems Associated With Ochoa Syndrome Involve: Urinary Incontinence: Leaky urine or urinary incontinence is when an individual finds it difficult to hold urine. [icliniq.com]

  We report a 5-year-old boy presenting to us with Stage IV chronic kidney disease with bilateral hydroureteronephrosis secondary to chronic urinary incontinence. [indianjnephrol.org]

  […] non·neu·ro·gen·ic neu·ro·gen·ic blad·der detrusor-sphincter incoordination with urinary incontinence, constipation, urinary tract infection, upper tract changes. [medical-dictionary.thefreedictionary.com]

  […] system disease Human Urinary incontinence Intestinal disease Nervous system diseases Treatment Voiding dysfunction Neurological disorder Bladder disease Keyword (es) Adulto Constipación Niño Enuresis Estudio caso Exploración clínica Exploración Mímica [pascal-francis.inist.fr]

  An ambulatory surgical procedure under local anesthesia for treatment of female urinary incontinence. Int Urogynecol J Pelvic Floor Dysfunct 1996;7:81-85. ‎ [books.google.com]

• 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]

  Crossref PubMed Scopus (30) Google Scholar, , Functional voiding dysfunction is frequent in a pediatric population: up to 15% of children present urinary dysfunction and the same proportion presents with nocturnal enuresis at the age of 6 years. [kidney-international.org]

  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]

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]

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]

What Are the Treatment Modalities? Treatment of Ochoa syndrome is mainly symptom-based; the evaluated symptoms are given conservative treatment. However, early diagnosis can help in avoiding further complications. 1. [icliniq.com]

Treatment for Ochoa syndrome focuses on the specific symptoms that are present in each individual. [rareguru.com]

Initial treatment consisted of clean intermittent catheterization with anticholinergics for all patients. Four patients (67%) were submitted to bladder augmentation. [journal.einstein.br]

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]

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]

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]

When the infarct is predominantly an ill-defined lucency, osteomyelitis or neoplastic etiologies such as myeloma and metastasis can also enter the differential along with insufficiency fracture. [omicsonline.org]

Etiology of diarrheal infection in children of Porto Velho (Rondonia, Western Amazon region, Brazil). Brazilian J Med Bio Res 2006;39:507-17. Haque R, Mondal D, Kirkpatrick BD, Akther S, Farr BM, Sack RB, dkk. [saripediatri.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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.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]

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]

[citation needed] Epidemiology[edit] Urofacial (Ochoa) syndrome received the Ochoa name because of the first person to describe it in 1987, Bernardo Ochoa.[3] References[edit] ^ Chauve, X.; Missirian, C.; Malzac, P.; Girardot, L.; Guys, J. [en.wikipedia.org]

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]

The HPSE2 gene plays a major role in the pathophysiology of the syndrome. Heparinase 2 is a protein whose functions are controlled by the HPSE2 gene. [icliniq.com]

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]

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

However, early diagnosis may help in better preventive care and prevention of complications like kidney failure and urinary tract deterioration. Last reviewed at: 25 Nov 2022 - 5 min read [icliniq.com]

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

Zurück zum Zitat Nicanor FA, Cook A, Pippi-Salle JL (2005) Early diagnosis of the urofacial syndrome is essential to prevent irreversible renal failure. [springermedizin.de]

Early diagnosis and treatment are necessary to prevent upper urinary tract deterioration and renal failure. [rareguru.com]

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]