Atypical presentation of currarino syndrome: A case report

Hage, Paul; Kseib, Cedric; Adem, Camilo; Chouairy, Camil J.; Matta, Reva

doi:10.1016/j.ijscr.2019.02.047

Cited by 4 publications

(9 citation statements)

References 13 publications

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“…2,4 The pathogenesis of Currarino syndrome is commonly due to abnormal separation of the ectoderm and endoderm during development that causes a connection between the spinal column and bowel due to failed anterior vertebral fusion. 6 In over half of cases, Currarino syndrome is caused by a mutation in the MNX1 gene on chromosome 7q36. Although the disorder is mostly hereditary, it can also arise in an acquired form with variable expression.…”

Section: Discussionmentioning

confidence: 99%

Presacral mature cystic teratoma associated with Currarino syndrome in an adolescent with androgen insensitivity: illustrative case

Koskay

Opperman

Mezzacappa

et al. 2022

Journal of Neurosurgery: Case Lessons

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BACKGROUND Currarino syndrome is a rare disorder that classically presents with the triad of presacral mass, anorectal malformation, and spinal dysraphism. The presacral mass is typically benign, although malignant transformation is possible. Surgical treatment of the mass and exploration and repair of associated dysraphism are indicated for diagnosis and symptom relief. There are no previous reports of Currarino syndrome in an androgen-insensitive patient. OBSERVATIONS A 17-year-old female patient presented with lack of menarche. Physical examination and laboratory investigation identified complete androgen insensitivity. Imaging analysis revealed a presacral mass lesion, and the patient was taken to surgery for resection of the mass and spinal cord untethering. Intraoperative ultrasound revealed a fibrous stalk connecting the thecal sac to the presacral mass, which was disconnected without the need for intrathecal exploration. The presacral mass was then resected, and pathological analysis revealed a mature cystic teratoma. Postoperatively, the patient recovered without neurological or gastrointestinal sequelae. LESSONS Diagnosis of incomplete Currarino syndrome may be difficult but can be identified via work-up of other disorders, such as androgen insensitivity. Intraoperative ultrasound is useful for surgical decision making and may obviate the need for intrathecal exploration during repair of dysraphism in the setting of Currarino syndrome.

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Section: Discussionmentioning

confidence: 99%

Presacral mature cystic teratoma associated with Currarino syndrome in an adolescent with androgen insensitivity: illustrative case

Koskay

Opperman

Mezzacappa

et al. 2022

Journal of Neurosurgery: Case Lessons

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“…Half of cases are due to an autosomal dominant mutation in the HLXB9 (MNX1) gene (on chromosome 7q36). This gene is involved in development of the caudal end of embryo and its mutations cause the abnormal [12,18].…”

Section: Discussionmentioning

confidence: 99%

“…Due to the rarity and easily missed diagnosis of CS, recurrence of a tumor should be kept in mind. Follow-up with serum tumor markers and MRI is recommended to detect any evolution of a pelvic mass [12].…”

Section: Discussionmentioning

confidence: 99%

Incomplete Currarino Syndrome: Case Report and a Brief Review of Literature

Abdelhafez¹,

Hamed²

2020

Arch Clin Gastroenterol

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Currarino Syndrome (CS) or triad is rare entity that was fi rst reported by Currarino in 1981 as a pathology involving three anomalies; anorectal malformation, a sacral bony defect and a presacral mass. CS can be familial or sporadic, with an autosomal dominant inheritance mode. The English literature reported over 310 cases of Currarino triad with the cases diversity in age, clinical presentation, and management. Herein, we present a case of neonate with incomplete CS (presacral mass [Sacrococcygeal Teratoma SCT] and low anorectal malformation with normal sacrum). He was diagnosed antenatally. He was full term, weighing 3250 gm and delivered by Caeserian section. He was operated on the second day of life. According to Altman's classifi cation, the case had type II SCT (mainly external with small intrapelvic component). The sacrococcygeal teratomatous mass was about 13×9×10 cm in diameter and weights about 950 gm. He underwent combined abdominal/posterior sacral approach. He underwent diverting colostomy via abdominal exploration & complete excision of the sacrococcygeal mass together with the coccyx through chevron posterior approach, and fi nally anorectoplasty was done all in the same setting. Colostomy was closed 4 months later and tumor marker turned normal and the child has grown well and led a normal life with accepted continence with no recurrence after 4.8 years of follow up.

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“…Since the initial description of the Currarino triad, nu merous case reports have demonstrated the variable clini cal phenotype of the syndrome. 2,3,12,[14][15][16]21 The majority of patients are asymptomatic, 17 having only hemisacrum without an associated presacral mass or anorectal anoma lies. Some patients may have a sacral anomaly associated with either an anorectal malformation or a presacral mass.…”

Section: Discussionmentioning

confidence: 99%

“…10 In rare cases, obstipation and an inability to pass meconium may occur, which can lead to early diagnosis. 7 In asymptomatic individuals, the presacral mass may enlarge later in life, causing abdominal distention, 12 constipation, and even a rectothecal fistula, causing local inflammation or menin gitis. 10 Any patient born with an anorectal malformation should be evaluated for a possible sacral or spinal cord anomaly.…”

Section: Discussionmentioning

confidence: 99%

Currarino syndrome presenting as a cerebrospinal fluid leak from the dermal sinus tract: case report

Kim¹,

Robbins

Rollins

et al. 2020

Journal of Neurosurgery: Pediatrics

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Currarino syndrome is an autosomal dominant condition with variable expressivity and penetrance that is associated with several classic features: sacral dysgenesis, presacral mass, and/or anorectal anomalies. The authors present a unique case in which the patient’s initial presentation was a CSF leak from a sinus tract. The sinus tract was identified and disconnected from the thecal sac, obliterating the anterior sacral meningocele. This case represents a unique scenario in which Currarino syndrome manifested as a CSF leak from a dermal sinus tract.

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Atypical presentation of currarino syndrome: A case report

Cited by 4 publications

References 13 publications

Presacral mature cystic teratoma associated with Currarino syndrome in an adolescent with androgen insensitivity: illustrative case

Presacral mature cystic teratoma associated with Currarino syndrome in an adolescent with androgen insensitivity: illustrative case

Incomplete Currarino Syndrome: Case Report and a Brief Review of Literature

Currarino syndrome presenting as a cerebrospinal fluid leak from the dermal sinus tract: case report

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