Additionally, most patients suffer from constipation.[3] Early detection of this syndrome is possible through the peculiar faces that children present. [en.wikipedia.org]

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

• Camping

  Hoebeke P, Van Laecke E, Van Camp C, Raes A, Van De Walle J. One thousand video-urodynamic studies in children with non-neurogenic bladder sphincter dysfunction. BJU Int 2001;87:575-80. [ PUBMED ] [ FULLTEXT ] [Figure 1], [Figure 2] [doi.org]

• Movement Disorder

  Treatment must first be directed toward stopping the movement disorder (which itself causes further vasoconstriction, fatigue, and pain in the involved limb). [cme.dannemiller.com]

• 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

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

  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]

  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]

  Also, the presence of nocturnal lagophthalmos in these patients was recently described. Early recognition and timely diagnosis are critical to preventing complications such as urinary tract infections or chronic kidney disease. [jpurol.com]

  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]

• Kidney Failure

  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]

  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]

  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. [medlineplus.gov]

• 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]

• Microscopic Hematuria

  Hematuria: Presence of blood in the urine. There are two types: gross hematuria and microscopic hematuria. How Is the Condition Diagnosed? Preferred physicians to diagnose the condition would be pediatricians, nephrologists, and urologists. [icliniq.com]

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]

• 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]

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

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]

(August 2017) Treatment[edit] The treatment varies based on the condition and extent of the uropathy. To empty the bladder regularly, clean intermittent catheterization (CIC) can be used. [en.wikipedia.org]

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]

The aim of early treatment is the restoration of balanced bladder emptying and prevention of upper tract deterioration. [clinmedjournals.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]

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). [springermedizin.de]

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]

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. [frontiersin.org]

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]

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]

[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]

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]

Epidemiology of chronic kidney disease in children.Pediatr Nephrol. 2012; 27: 363-373https://doi.org/10.1007/s00467-011-1939-1 Vivante A. Hildebrandt F. [jpurol.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]

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

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]

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

However, early diagnosis may help in better preventive care and prevention of complications like kidney failure and urinary tract deterioration. Last reviewed at: 27 Oct 2022 - 5 min read [icliniq.com]

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

Treatment, which may involve bladder re-education, prophylactic antibiotics, anticholinergic therapy (to decrease bladder hyperactivity), and alpha-blockers, is important in the prevention of upper urinary tract deterioration and renal failure. [globalgenes.org]