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Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated

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Abstract

During the last 40 years over 100 patients have been reported with a dysfunctional lower urinary tract associated with a peculiar distortion of the facial expression. This most unusual disorder was initially considered a local observation. Time, however, has proven otherwise, since patients with this syndrome have now been reported from various countries throughout the world. This association of lower urinary tract and bowel dysfunction with an abnormal facial expression was named the urofacial (Ochoa) syndrome. Genetic studies have demonstrated that this condition is inherited as an autosomal recessive trait, and a potential gene has been mapped to chromosome 10q23-q24. There is also enough evidence to suggest that patients with this syndrome as well as those with subclinical neurological bladder, occult neuropathic bladder, non-neurogenic neurogenic bladder or Hinman syndrome, dysfunctional voiding, or dysfunctional elimination may be affected by the same congenital disorder of neurological origin.

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References

  1. Elejalde BR (1979) Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: “the Ochoa syndrome”. Am J Med Genet 3:97–108

    PubMed  Google Scholar 

  2. Ochoa B, Gorlin R (1987) Urofacial (Ochoa) syndrome. Am J Med Genet 27:661–667

    PubMed  Google Scholar 

  3. Feng WC, Churchill BM (2001) Dysfunction elimination syndrome in children without obvious spinal cord diseases. Pediatr Clin North Am 48:1489–1504

    CAS  PubMed  Google Scholar 

  4. Ochoa B (1992) The urofacial (Ochoa) syndrome revisited. J Urol 148:580–583

    PubMed  Google Scholar 

  5. Yang CC, Mayo M (1997) Morbidity of dysfunctional voiding syndrome. Urology 49:445–448

    Article  PubMed  Google Scholar 

  6. Hinman F Jr (1974) Urinary tract damage in children who wet. Pediatrics 54:143–150

    Google Scholar 

  7. Varlam DE, Dippell J (1995) Non-neurogenic bladder and chronic renal insufficiency in childhood. Pediatr Nephrol 9:1–5

    PubMed  Google Scholar 

  8. Koff SA, Wagner TT, Jayanthi VR (1998) The relationship among dysfunctional elimination syndromes, primary vesicoureteral reflux and urinary tract infections in children. J Urol 160:1019–1022

    CAS  PubMed  Google Scholar 

  9. Jayanthi VR, Khoury AE, McLorie GA, Agarwal SK (1997) The non-neurogenic neurogenic bladder of early infancy. J Urol 158:1281–1285

    PubMed  Google Scholar 

  10. Bauer SB, Dyro FM, Krarup C, Colodny A, Mandel J, Retik AB (1989) The unrecognized neuropathic bladder of infancy. J Urol 142:589–591

    PubMed  Google Scholar 

  11. Teebi AS, Farag TI, El Khalifa MY, Besisso MS, Ansari (1989) Urofacial syndrome. Am J Med Genet 34:608

    PubMed  Google Scholar 

  12. Teebi AS, Hassoon MM (1991) Urofacial syndrome associated to hydrocephalus due to aqueduct stenosis. Am J Med Genet 40:199–200

    PubMed  Google Scholar 

  13. Wang C-Y, Huang J-Q, She J-D, Marron MP, Ruan Q-G, Hawkins-Lee B, Ochoa B, She P-X (1999) Genetic homogeneity, high resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene. Am J Med Genet 84:454–459

    Article  PubMed  Google Scholar 

  14. Galan E, Garcia JM, Hidalgo E, Moran JM, Sanjuan S, Gonzales E, Cardes JJ (1997) Sindrome de Ochoa. V Annual Meeting of the Genetics and Dysmorphology Section, Spanish Pediatric Association, Zaragoza

  15. García-Minaur S, Oliver F, Yañes JM, Rodriguez S J, Quinn F, Reardon W (2001) Three new European cases of urofacial (Ochoa) syndrome. Clin Dysmorphol 10:165–170

    PubMed  Google Scholar 

  16. Chauve X, Misiriam C, Malzac P, Giraldo L, Guys JM, Louis C, Philip N, Voelckel M (2000) Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family. Am J Med Genet 95:10–12

    Article  PubMed  Google Scholar 

  17. Teebi AS, Farag TI, El Khalifa MY, Besisso MS, Ansari AG (1989) Urofacial syndrome. Am J Med Genet 34:608

    PubMed  Google Scholar 

  18. (Deleted)

  19. Wang C-Y, Hawkins-Lee, Ochoa B, Walker DR, She J-X (1997) Homozygosity and linkage disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24. Am J Human Genet 60:1461–1467

    CAS  Google Scholar 

  20. Wang C-Y, Shi J-D, Huang Y-Q, Cruz PE, Ochoa B, Howkins-Lee B, Davoodi-Semiromi A, She J-X (1999) Construction of a physical and transcript map for a 1-Mb genomic region containing the urofacial (Ochoa) syndrome gene on 10q-23q24 and localization of the disease gene within two overlaping BAC clones (<360 kb). Genomics 60:12–19

    Google Scholar 

  21. (Deleted)

  22. Paul Y (1972) Face of the child as an index of disease. Indian J Pediatr 39:76–83

    PubMed  Google Scholar 

  23. Potter EL (1946) Bilateral renal agenesis. J Pediatr 29:68–76

    Google Scholar 

  24. Wang RY, Earl DL, Ruder RO, Graham J (2001) Syndromic ear anomalies and renal ultrasounds. Pediatrics 108:E32

    PubMed  Google Scholar 

  25. Allanson J (1995) Genetic hearing loss associated with external ear anomalies. In: Gorlin RJ, Toriello H, Cohen MM (eds) Hereditary hearing loss and its syndromes. Oxford University Press, New York

  26. Blake KD, Davenport SLH, Hall BD (1998) CHARGE association: un update and review for the primary pediatrician. Clin Pediatr 37:159–173

    CAS  Google Scholar 

  27. Powell C, Michaelis RC (1999) Townes Brocks syndrome. Am J Genet 36:89–93

    CAS  Google Scholar 

  28. Rollnick BR, Kaye CL, Nagatoshi K, Hauck W, Martin A (1987) Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients. Am J Med Genet 26:361–375

    PubMed  Google Scholar 

  29. Parvizi J, Anderson SW, Martin CO, Damasio H, Damasio AR (2001) Pathological laughing and crying. Brain 124:1708–1719

    Article  CAS  PubMed  Google Scholar 

  30. Beer E (1915) Chronic retention of urine in children. JAMA 65:1709–1712

    Google Scholar 

  31. Laidley JWS (1942) Achalasia of the urinary tract in children. Med J Aust 2:475–477

    Google Scholar 

  32. Bodian M (1957) Some observations on the pathology of congenital idiopathic bladder neck obstruction (Marion’s disease). Br J Urol 393–398

  33. Marion G (1940) Traité d’urologie, 4th edn. Masson et Cie, Paris

  34. Smith DR (1969) Critique on the concept of vesical neck obstruction in children. JAMA 207:1686–1692

    Article  PubMed  Google Scholar 

  35. Spence HM, Murphy JJ, McGovern JH, Hendren WH, Pryles CV (1964) Urinary tract infections in infants and children. J Urol 91:623–638

    PubMed  Google Scholar 

  36. DeLuca FG, Fisher JH, Swenson O (1963) Review of recurrent urinary infections in infancy and early childhood. N Engl J Med 268:75–77

    PubMed  Google Scholar 

  37. Andreassen M (1953) Vesical neck obstruction in children. Acta Chir Scand 105:398–406

    PubMed  Google Scholar 

  38. Leadbetter GW Jr, Leadbetter WF (1961) Ureteral reimplantation and bladder neck reconstruction. JAMA 175:349–353

    PubMed  Google Scholar 

  39. Gross RE, Randolf J, Wise HM Jr (1963) Surgical correction of bladder neck obstruction in children. N Engl J Med 258:5–14

    Google Scholar 

  40. Hendren WH (1965) Vesicoureteral reflux and pyelonephritis in children. Postgrad Med 37:529–538

    PubMed  Google Scholar 

  41. Straffon RA, Angel WJ (1960) Diagnosis and treatment of urinary tract infection in children. A group of 74 children with recurrent infections were studied to aid in planning a therapeutic program. JAMA 174:1377–1381

    Google Scholar 

  42. Burrows EH, Allen PR (1964) Urethral lesions in infancy and childhood studied by micturition cysto-urethrography. Br J Radiol 37:187–199

    PubMed  Google Scholar 

  43. Lich R Jr, Howerton L, Davis LA (1961) Vesicourethrography. J Urol 85:396–397

    PubMed  Google Scholar 

  44. Murphy JJ, Tristan TA, Shoenberg HW (1964) Studies on the pathogenesis and prevention of pyelonephritis. Surgery 56:760–768

    PubMed  Google Scholar 

  45. Lyon RP, Smith DR (1963) Distal urethral stenosis. J Urol 89:414–421

    PubMed  Google Scholar 

  46. Lyon RP, Tanagho EA (1965) Distal urethral stenosis in little girls. J Urol 93:379–388

    PubMed  Google Scholar 

  47. Tanagho EA, Miller ER, Lyon RP, Fisher R (1971) Spastic external striated sphincter and urinary tract infection in girls. Br J Urol 43:69–82

    PubMed  Google Scholar 

  48. Ochoa B, Piedrahita W, Marulanda A (1969) Internal urethrotomy in girls with chronic urinary infection and reflux. Proceedings of the Colombian Congress of Urology, Popayan

  49. Lapides J, Anderson EC, Petrone AF (1966) Urinary tract infection in children. JAMA 195:248–253

    Article  PubMed  Google Scholar 

  50. Dorfman L, Bailey J, Smith JP (1969) Subclinical neurogenic bladder in children. J Urol 101:48–54

    PubMed  Google Scholar 

  51. Kamhi B, Horowitz MI, Kovetz A (1971) Isolated neurogenic dysfunction of the bladder in children with urinary tract infection. J Urol 106:151–153

    PubMed  Google Scholar 

  52. Martin DC, Datta NS, Shweitz B (1971) The occult neurological bladder. J Urol 105:733–738

    CAS  PubMed  Google Scholar 

  53. Williams DI, Hirst G, Doyle D (1974) The occult neuropathic bladder. J Pediatr Surg 9:35–41

    PubMed  Google Scholar 

  54. Mix L (1977) Occult neuropathic bladder. Urology 10:1–9

    PubMed  Google Scholar 

  55. Hinman F, Baumann FW (1973) Vesical and ureteral damage from voiding dysfunction in boys without neurological or obstructive disease. J Urol 109:727–732

    PubMed  Google Scholar 

  56. Hinman F Jr (1986) Nonneurogenic neurogenic bladder (the Hinman syndrome) 15 years later. J Urol 136:769–777

    PubMed  Google Scholar 

  57. Allen TD, Bright TC III (1978) Urodynamic patterns in children with dysfunctional voiding problems. J Urol 119:247–249

    PubMed  Google Scholar 

  58. Von Gontard A, Eiberg H, Hollman E, Ritting S, Lemkul G (1998) Molecular genetics of nocturnal enuresis: clinical and genetic heterogeneity. Acta Pediatrica 87:571–578

    Article  Google Scholar 

  59. Arnell H, Hjalmas K, Jagerwall M, Lackgren G, Stenberg A, Bengtsson B, Wassen C, Emahazion T, Anneren G, Petterson U, Sundwall M, Dahl N (1997) The genetic of primary nocturnal enuresis: inheritance and suggestion of a second major gene on chromosome 12q. J Med Genet 34:360–365

    PubMed  Google Scholar 

  60. Blaivas JG (1982) The neurophysiology of micturition: a clinical study of 550 patients. J Urol 127:958–963

    PubMed  Google Scholar 

  61. Fidas A, Elton RA, McInnes A, Chisholm GD (1987) Neurophysiological measurement of the voiding reflex arcs in patients with functional disorders of the lower urinary tract. Br J Urol 60:205–211

    Google Scholar 

  62. Colombo T (2000) Central nervous system control of micturition in patients with bladder dysfunctions in comparison with healthy control probands (abstract). Urologie 39:160

    Article  Google Scholar 

  63. Moll GH, Wicker M, Rothenberger A (1999) Central nervous regulatory mechanisms in nocturnal enuresis (abstract). Monatsschr Kinderheilkd 147:90

    Article  Google Scholar 

  64. Von Gontard A, Schmelzer D, Seifen S, Pukrop R (2001) Central nervous system involvement in nocturnal enuresis: evidence of general neuromotor delay and specific brainstem dysfunction. J Urol 166:2448–2451

    PubMed  Google Scholar 

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Acknowledgements

I would like to thank Dr. Alan Robson and Dr. Augusto C. Ochoa for their critical contributions to this manuscript.

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Authors and Affiliations

  1. Department of Pediatric and Urological Surgery, University of Antioquia, Medellin, Colombia

    Bernardo Ochoa

  2. Department of Pediatrics, Louisiana State University Health Sciences Center, 533 Bolivar Street, Room G451, New Orleans, LA 70112, USA

    Bernardo Ochoa

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  1. Bernardo Ochoa
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Correspondence to Bernardo Ochoa.

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Ochoa, B. Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated. Pediatr Nephrol 19, 6–12 (2004). https://doi.org/10.1007/s00467-003-1291-1

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