The association of congenital anorectal malformation, sacral defect and a presacral mass is known as the Currarino syndrome described for the first time in 1981. Currarino et al. proposed that abnormal endoectodermal adhesions and notochordal defects in early fetal life may result in a fistula between the gut and the spinal ca- nal with enteric elements ventrally and neural elements dorsally. In over 80% of cases, the syndrome is diagnosed during the first decade of life. Intractable constipation since birth is the leading symptom of this triad, which follows an autosomal dominant mode of heredity. Rectal examination, plain radiographs and magnetic resonance imaging are the main tools for the diagnosis. The medical therapy is poorly successful and, therefore, combined medical and neurosurgical assessment and management for all cases of Currarino syndrome are recommended. The authors present a case of a patient with the classic features of this syndrome and briefly review the relevant literature.
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J Cancer Res Ther
April 2024
Department of Pediatric Surgery, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India.
Currarino syndrome (CS) is a rare congenital syndrome characterized by a triad of anorectal malformation, sacral deformity, and presacral mass. In about 50% of cases, it is caused by HLXB9 gene mutation in chromosome 7q36. A 13-month-male child presented with presacral discharging sinus with a history of surgery for anorectal malformation and perineal fistula at the time of birth.
View Article and Find Full Text PDFCancers (Basel)
June 2024
Department of Pediatric Hematology and Oncology, University Hospital Bonn, 53127 Bonn, Germany.
GCTs are developmental tumors and are likely to reflect ontogenetic and teratogenetic determinants. The objective of this study was to identify syndromes with or without congenital anomalies and non-syndromic defects as potential risk factors. Patients with extracranial GCTs (eGCTs) registered in MAKEI 96/MAHO 98 between 1996 and 2017 were included.
View Article and Find Full Text PDFPediatr Surg Int
May 2024
Department of General Surgery, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, No.56 Nanlishi st, Xicheng District, Beijing, 100045, China.
Purpose: To describe the long-term bowel function of anorectal malformation (ARM) patients and explore the potential influence factors.
Methods: ARM patients with follow-up data > 10 years were included. Cases of cloaca, Currarino syndrome, and VACTERL syndrome were excluded.
J Pediatr Surg
August 2024
Department of Surgery, UC Davis Children's Hospital, University of California Davis, Sacramento, CA, USA; Department of Surgery, Shriners Hospital for Children-Northern California, Sacramento, CA, USA. Electronic address:
Purpose: Congenital anorectal stenosis is managed by dilations or operative repair. Recent studies now propose use of dilations as the primary treatment modality to potentially defer or eliminate the need for surgical repair. We aim to characterize the management and outcomes of these patients via a multi-institutional review using the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) registry.
View Article and Find Full Text PDFMol Syndromol
March 2024
Department of Medical Genetics, National Institute of Health in Rabat, Rabat, Morocco.
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 gene, mapped to 7q36, are the main causes of this syndrome.
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