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2011 | 6 | 6 | 723-726
Tytuł artykułu

Currarino Syndroma, initially misdiagnosed and treated like megacolon congenitum

Treść / Zawartość
Warianty tytułu
Języki publikacji
EN
Abstrakty
EN
Currarino syndrome was first described as a triad by Guido Currarino, an American radiologist in 1981. It is an autosomal dominant hereditary disease known by the triad of anorectal stenosis, anterior sacral defect, and a presacral mass that is most often an anterior sacral meningocele. We represent a 3 year boy with refractory constipation from birth, which had been wrongly diagnosed and treated as Hirschsprung’s disease since early childhood. The patient underwent urgent colostomy because of water intoxication due to bowel irrigation, and following investigations (CT, MRI) revealed anorectal anomaly and presacral mass compatible with Curarrino’s syndrome. Definitive operation was done with perineal approach, posterior sagittal anorectoplasty, with interval colostomy closure 2 months after perineal operation. An uncomplicated postoperative recovery ensued. The patient’s bowel habits successfully returned to normal soon after the operation. A multidisciplinary diagnostic and therapeutic protocol is presented. Main points are rectal examination, sacrum x-Ray, molecular genetic diagnosis, radiologic evaluation of every member of Currarino syndrome families, CT scan, magnetic resonance (MR) evaluation of patient spine and pelvis and suction rectal biopsies. If the mass is a meningocele, colostomy and neurosurgical exploration should precede anoplasty due to the risk of meningitis.
Wydawca
Czasopismo
Rocznik
Tom
6
Numer
6
Strony
723-726
Opis fizyczny
Daty
wydano
2011-12-01
online
2011-10-08
Twórcy
  • Institute for mother and child “Vukan Cupic”, 11000, New Belgrade, Serbia and Montenegro
  • Institute for mother and child “Vukan Cupic”, 11000, New Belgrade, Serbia and Montenegro
Bibliografia
  • [1] Currarino G, Coln D, Votteler T. Triad of anorectal, sacral, and presacral anomalies. Am J Radio1 1981; 137: 395–398
  • [2] Crétolle C, Pelet A, Sanlaville D, et al. Spectrum of HLXB9 gene mutations in Currarino’s syndrome and genotype-phenotype correlation. Hum Mutat. 2008. 29(7):903–910 http://dx.doi.org/10.1002/humu.20718[WoS][Crossref]
  • [3] Belloni E, Martucciello G, Verderio D, et all. Involvement of the HLXB9 homeobox gene in Currarino’s syndrome. Am J Hum Genet 2000 Jan;66(1):312–319 http://dx.doi.org/10.1086/302723[Crossref]
  • [4] Seri M, Martucciello G, Paleari L, et all. Exclusion of the Sonic Hedgehog gene as responsible for Currarino’s syndrome and anorectal malformations with sacral hypodevelopment. Hum Genet 1999 Jan;104(1):108–110 http://dx.doi.org/10.1007/s004390050919[Crossref]
  • [5] Lynch SA, Bond PM, Copp AJ, et al, A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nat Genet 1995 Sep;11(1):93–5 http://dx.doi.org/10.1038/ng0995-93[Crossref]
  • [6] Gardner PA, Albright AL. “Like mother, like son:” Hereditary anterior sacral meningocele. Case report and review of the literature. J Neurosurg. 2006;104:138–142
  • [7] Kennedy RL. An unusual rectal polyp; anterior sacral meningocele. Surg Gynecol Obstet 1926;43:803–804
  • [8] Thambidorai CR, Muin I, Razman J, Zulfiqar A. Currarino’s triad with dual pathology in the presacral mass: report of a case. Dis Colon Rectum. 2003;46:974–977. doi: 10.1007/s10350-004-6696-9 http://dx.doi.org/10.1007/s10350-004-6696-9[Crossref]
  • [9] Gardner PA, Albright AL. “Like mother, like son:” Hereditary anterior sacral meningocele. Case report and review of the literature. J Neurosurg. 2006;104:138–142
  • [10] Krivokapic Z, Grubor N, Micev M, Colovic R. Anterior sacral meningocele with presacral cysts: report of a case. Dis Colon Rectum. 2004;47:1965–9 http://dx.doi.org/10.1007/s10350-004-0664-2[Crossref]
  • [11] Saberi H, Habibi Z, Adhami A. Currarino’s syndrome misinterpreted as Hirschsprung’s disease for 17 years: a case report. Cases J. 2009; 2: 118–121 http://dx.doi.org/10.1186/1757-1626-2-118[Crossref]
  • [12] Martucciello G, Torre M, Belloni E, Lerone M, Pini Prato A, Cama A, Jasonni V. Currarino’s syndrome: proposal of a diagnostic and therapeutic protocol. J Pediatr Surg. 2004 Sep;39(9):1305–1311 http://dx.doi.org/10.1016/j.jpedsurg.2004.05.003[Crossref]
  • [13] Tander B, Baskin D, Bulut M, A case of incomplete Currarino’s triad with malignant transformation. Pediatr Surg Int 1999 Jul;15(5–6):409–410 http://dx.doi.org/10.1007/s003830050615[Crossref]
Typ dokumentu
Bibliografia
Identyfikatory
Identyfikator YADDA
bwmeta1.element.-psjd-doi-10_2478_s11536-011-0091-4
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