Currarino syndrome in an elderly man: Multimodality imaging findings

Vitale, Alejandro José; Villa, Rossella; Napoli, Elvira; Ugga, Lorenzo; Manto, Andrea

doi:10.1016/j.radcr.2020.07.049

Cited by 4 publications

(4 citation statements)

References 22 publications

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“…CS patients show a broad phenotypic variability. Patients with CS can be diagnosed in the neonatal period, but the diagnosis is usually made late in childhood, due to the fact that the lesion may still be asymptomatic or manifested by nonspecific symptoms such as constipation, rectal fullness, urinary symptoms such as dysuria due to local pressure effect, lower abdominal pain, and meningitis [Vitale et al, 2020].…”

Section: Discussionmentioning

confidence: 99%

Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report

El Amrani,

Natiq,

Sbiti

et al. 2023

Mol Syndromol

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Introduction: Currarino syndrome is a rare syndrome with multiple congenital anomalies including sacral agenesis, anorectal malformation, and presence of a presacral mass. Currarino syndrome is considered to be an autosomal dominant inherited disorder, with low penetrance and variable expressivity, but sporadic cases have also been reported. Mutations in MNX1 gene, mapped to 7q36, are the main causes of this syndrome. To the best of our knowledge, less than 400 cases of this syndrome have been mentioned in the literature. Currarino syndrome is often seen in children and considered to be rare in adults; it is mostly found as incidental finding and suspected to be underdiagnosed. Case Presentation: Recognizing the rarity of this syndrome, we present here two siblings with incomplete form of Currarino syndrome combined with microcephaly and intellectual disability. Banding and molecular cytogenetics were used to characterize the origin of this disorder. Banding cytogenetics together with molecular cytogenetics revealed an unbalanced translocation t(7;21)(q36.2;p11.3)mat, leading to a deletion of the 7q36 region in both affected children. Conclusion: This report highlights the importance of cytogenetics in diagnosis of rare genetic syndromes, with impact on genetic counseling of patients and their families. To the best of our knowledge, this is the first Moroccan Currarino syndrome case due to an unbalanced translocation leading to a der(7)t(7;21)(q36.2;p11.3). Also, this is the first Currarino syndrome case associated with a deletion in 7q36 to be reported in Morocco.

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Section: Discussionmentioning

confidence: 99%

Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report

El Amrani,

Natiq,

Sbiti

et al. 2023

Mol Syndromol

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“…Currarino syndrome has been first described in 1981 by a pediatric radiologist, Guido Currarino [ 1 ]. Currarino syndrome is a very rare disorder that occurs because of autosomal dominant inheritance or sporadic [ 3 , 6 - 7 ]. The pathogenesis behind CS is thought to be a failure of the caudal eminence to be separated from the hindgut and the caudal neural tube leading to the malformations that CS is characterized as, with a triad of anorectal malformation, presacral mass, and sacrococcygeal abnormalities [ 8 ].…”

Section: Discussionmentioning

confidence: 99%

“…CS is characterized by the clinical triad of anorectal malformation, sacrococcygeal abnormalities, and a presacral mass, such as anterior meningocele, being the most common one [ 2 ]. The clinical triad of CS is often not complete, and it ranges from mild, to moderate to, severe [ 3 ]. The most common clinical presentation of CS is chronic constipation due to external compression by the presacral mass or anorectal malformations [ 4 - 5 ].…”

Section: Introductionmentioning

confidence: 99%

Complete Currarino Triad Presenting With Chronic Constipation

Aldabbab¹,

Ghadeer²,

Alnosair³

et al. 2022

Cureus

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Currarino syndrome (CS) is a congenital disorder that is characterized by the triad of anorectal malformation, sacrococcygeal anomalies, and a presacral mass. The inheritance of CS is autosomal dominant. Chronic constipation is the most common symptom of CS. MRI is considered the most sensitive test to diagnose CS. The report describes an eight-month-old baby girl who presented with chronic constipation. Physical examination showed abdominal distension and anal stenosis. Plain radiographs and MRI revealed sacrococcygeal abnormalities with a presacral mass. A patient was diagnosed with Currarino syndrome and managed surgically with excision of the presacral mass and an anorectoplasty via a posterior sagittal midline incision.

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“…Patients can be asymptomatic or present with various signs and symptoms, including constipation, abdominal distention, abdominal pain, nausea and vomiting, rectal fullness, abdominal and pelvic masses, low back pain, headaches, fever, arthralgia, recurrent meningitis, and urinary tract infection [1 , 3 , 5 , [8] , [9] , [10] , [11] , [12] , [13] , [14] , [15] . The most common symptom is chronic constipation.…”

Section: Discussionmentioning

confidence: 99%