Atypical presentation of currarino syndrome: A case report

Paul Hage; Cedric Kseib; Carmen Adem; Camil J Chouairy; Reva Matta

doi:10.1016/j.ijscr.2019.02.047

Atypical presentation of currarino syndrome: A case report

Int J Surg Case Rep. 2019:57:102-105. doi: 10.1016/j.ijscr.2019.02.047. Epub 2019 Mar 18.

Authors

Paul Hage¹, Cedric Kseib², Carmen Adem³, Camil J Chouairy⁴, Reva Matta⁵

Affiliations

¹ Department of Neurosurgery, Saint George Hospital University Medical Center, Balamand University, Beirut, Lebanon.
² Department of Neurosurgery, Saint George Hospital University Medical Center, Balamand University, Beirut, Lebanon. Electronic address: cedkseib@gmail.com.
³ Department of Radiology, Saint George Hospital University Medical Center, Balamand University, Beirut, Lebanon.
⁴ Department of Pathology, Saint George Hospital University Medical Center, Balamand University, Beirut, Lebanon.
⁵ Department of Pediatric Surgery, Saint George Hospital University Medical Center, Balamand University, Beirut, Lebanon.

Abstract

Introduction: Currarino syndrome is a rare congenital disorder characterized by a triad of anorectal malformation, a sacral bone defect, and a presacral mass. It results of an abnormal separation of the ectoderm from the endoderm caused by HLXB9 mutation in chromosome 7q36 in 50% of cases. The disorder is mostly hereditary as it can also be sporadic with a variable expression spectrum.

Presentation of case: The case of a previously healthy 3-month-old girl with abdominal distension, post-prandial vomiting, obstipation, and anuria of 5 days' history is presented in this article. Abdomino-pelvic magnetic resonance imaging (MRI) showed a large cystic multilobulated mass in the sacrococcygeal region with a dural communication evident of an anterior sacral meningocele. 1 year later, the child came back with constipation and was found to a have a malignant mixed germ cell tumor in the presacral area, a very rare presentation in Currarino syndrome.

Discussion: In a child presenting with at least one of the features of Currarino syndrome's triad, a diagnosis should be suspected. After reviewing the literature, the syndrome is usually missed and hence is under diagnosed. MRI is the best imaging modality for diagnostics and follow-up for any mass, benign or malignant, can bring life saving measures. Most masses are benign but can undergo malignant transformation even after resection. De novo malignancy is very rare and is described in our case.

Conclusion: Physicians treating patients with spinal dysraphism should suspect a diagnosis of Currarino syndrome by follow up imaging for any new benign or malignant growth.

Keywords: Case report; Currarino syndrome; Dysraphism; Malignancy; Neurosurgery; Pediatric surgery.