Complete Currarino Triad in All Affected Members of the Same Family

Mavridis, G.; Livaditi, E.; Soutis, Michael; Keramidas, D.C.

doi:10.1055/s-2005-865783

Cited by 5 publications

(2 citation statements)

References 20 publications

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“…Variable gene penetrance has been explained as the possible cause of incomplete form of syndrome with absence of one or two clinical features [5,6]. This syndrome has been described to run in families in few case reports further supporting the genetic association [7,8]. Various theories have been proposed for embryogenesis of this syndrome.…”

Section: Discussionmentioning

confidence: 99%

Currarino syndrome or Hirschsprung disease: how to prevent diagnostic dilemma in chronic constipation

et al. 2021

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Background Currarino syndrome is a rare congenital malformation having autosomal dominant inheritance. It comprises of anorectal malformation, presacral mass, and sacral vertebral defect occurring in variable proportion. The most common presentation is chronic constipation which is usually due to compression of rectum by anterior sacral mass. If clinical examination is not properly done and digital rectal examination is excluded from the examination, it can be misdiagnosed as other common cause of constipation like Hirschsprung disease. Case presentation We are reporting one such case of one-and-half-year-old female child with chronic constipation which was initially managed as Hirschsprung disease, but later on, after a repeat clinical examination with digital rectal examination, it was evaluated on the line of Currarino syndrome. The diagnosis was confirmed by contrast-enhanced computed tomography of abdomen with 3 dimensional reconstruction. It was then managed by posterior sagittal approach with excision of mass and anorectoplasty. Conclusion A proper protocol for clinical evaluation of patient with constipation prevents diagnostic dilemma between surgical causes of constipation in pediatric age group. Digital rectal examination must be included in the protocol for evaluation of chronic constipation. In pediatric age group, clinical workup should be done with keeping in mind the rare diagnosis of Currarino syndrome along with common cause of constipation like Hirschsprung disease.

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Section: Discussionmentioning

confidence: 99%

Currarino syndrome or Hirschsprung disease: how to prevent diagnostic dilemma in chronic constipation

et al. 2021

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“…Since our patient had a history of surgically treated megacolon referred to Hirschsprung Disease (HD), we analyzed the literature searching for “Currarino Syndrome and Hirschsprung Disease” and found 13 cases (11 histologically confirmed; 77% females) of reported association between HD and CS ( Table 1 ) [3 , 7 , [12] , [13] , [14] , [15] , [16] , [17] , [18] ]. Some authors [4] speculates that embryogenetic relationships between sacral dysgenesis and rectal innervation defects could occur and consequently dysganglionosis should be considered a feature of CS.…”

Section: Discussionmentioning

confidence: 99%

Currarino syndrome in an elderly man: Multimodality imaging findings

Vitale

Villa

Napoli

et al. 2020

Radiology Case Reports

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Currarino syndrome is a rare congenital disorder characterized by the triad of anorectal anomalies, sacrococcygeal dysgenesis and presacral mass. Because of the anorectal anomalies, the extrinsic compression due to the presacral mass and neurologic deficits, patients usually present with gastrointestinal symptoms, most commonly chronic constipation. Most cases of Currarino syndromes are diagnosed in childhood, at birth or in the pre-birth period and, even if adult presentation has been reported in few sporadic case reports, the diagnosis in the late stages of life remains extremely rare. In this paper, we describe the imaging findings of an elderly man with a past medical history of megacolon surgically treated in his childhood, who was diagnosed with Currarino syndrome at the age of 72.

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