Symptoma

Ochoa Syndrome

Urofacial Syndrome

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]

  • 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]

  • 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]

  • 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. Woolf AS, Stuart HM, Roberts NA, et al. Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation. [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]

    Individuals with Ochoa syndrome also exhibit a characteristic frown-like facial grimace when they try to smile or laugh, often described as inversion of facial expression. [ghr.nlm.nih.gov]

  • 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. [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

    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 and [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]

  • 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]

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]

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

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]

The prognosis is usually favorable and depends on several factors such as age, time of compression and associated injuries. Contributors : ROJ: patient management, literature review, KVB: literature review, writing manuscript. [casereports.in]

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]

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]

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

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]

Ardissino G, Daccò V, Testa S, Bonaudo R, Claris-Appiani A, Taioli E, Marra G, Edefonti A, Sereni F; ItalKid Project: Epidemiology of chronic renal failure in children: data from the ItalKid project. Pediatrics 2003;111:e382-e387. [karger.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]

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]

Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. ‎ [books.google.com]