Familial Currarino syndrome associated with Hirschsprung disease: Two cases of a mother and daughter

Ohno, Koichi; Nakamura, Tetsurō; Azuma, Takashi; Nakaoka, Tatsuo; Takama, Yuichi; Hayashi, Hiroaki; Horiike, Masaki; Zenitani, Masahiro; Higashio, Atsushi

doi:10.1016/j.jpedsurg.2012.10.061

Cited by 16 publications

(8 citation statements)

References 23 publications

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“…Nearly half of the CS patients with anal stenosis the anorectal malformation may not be diagnosed until adulthood because their constipation is mild. We are describing here a case of CS associated with HD, which is a rare pathological condition with only 11 reported cases including the present case [4]. Martucciello et al [5] reported that in 3 out of 6 (50%) similar cases of CS associated with HD or HD-related diseases, the associated pathology seemed to be a cause of their postoperative bowel dysfunction.…”

Section: Discussionmentioning

confidence: 62%

Currarino syndrome associated with Hirschsprung's disease: Case report and literature review

Furuta

Satō

Hamano

et al. 2015

Journal of Pediatric Surgery Case Reports

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Section: Discussionmentioning

confidence: 62%

Currarino syndrome associated with Hirschsprung's disease: Case report and literature review

Furuta

Satō

Hamano

et al. 2015

Journal of Pediatric Surgery Case Reports

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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%

“… Hydromyelia, vesico-ureteric reflux [4] 2 F 3 years Complete Distal aganglionic tract. 3 F 1 year Complete Not classificabile dysganglionosis Vesico-ureteric reflux 6 Garcia-Barceló et al 2009 1 1 M 2 days Complete Aganglionic rectum Stenotic anus, neurogenic bladder, vesico-ureteric reflux [7] 7 Isik et al 2010 2 1 F 4 years Complete Aganglionic rectum Narrow ventrally displaced anus, perianal fistulae [12] 2 M 5 years Complete Aganglionic rectum Ventrally located anus 8 Saberi et al 2009 1 1 F 18 years Complete HD suspected, not performed [13] 9 Kilickesmez et al 2006 1 F 11 years Complete Aganglionic rectum [14] HD, Hirschsprung disease. …”

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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“…In our case, clinical symptoms of urinary infection were associated with constipation. Though rarely its association with HD has been reported [ 9 ]. Still, presence of CS was reported in an adult case with chronic anal fistula [ 6 ].…”

Section: Discussionmentioning

confidence: 99%

A Very Rare Cause of Anal Atresia: Currarino Syndrome

Sarsu

Parmaksız

Cabalar³

et al. 2016

J Clin Med Res

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Currarino syndrome (triad) is an extremely rare condition characterized by presacral mass, anorectal malformation, and sacral bone deformation. The complete form of this syndrome displays all three irregularities. Herein, we report a male case who was admitted to our hospital with symptoms of urinary system infection and persistent constipation 2 years after colostomy operation performed with the indication of rectovestibular fistula and anal atresia, diagnosed as Currarino syndrome based on imaging modalities. In a patient who was admitted because of the presence of anal atresia, in order to preclude potential complications, probable concomitancy of this syndrome should not be forgotten. Early diagnosis is important for the prevention of meningitis, urinary tract infections, and malignant change.

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Familial Currarino syndrome associated with Hirschsprung disease: Two cases of a mother and daughter

Cited by 16 publications

References 23 publications

Currarino syndrome associated with Hirschsprung's disease: Case report and literature review

Currarino syndrome associated with Hirschsprung's disease: Case report and literature review

Currarino syndrome in an elderly man: Multimodality imaging findings

A Very Rare Cause of Anal Atresia: Currarino Syndrome

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