TY - JOUR
T1 - Currarino syndrome
T2 - Proposal of a diagnostic and therapeutic protocol
AU - Martucciello, G.
AU - Torre, M.
AU - Belloni, E.
AU - Lerone, M.
AU - Prato, A. Pini
AU - Cama, A.
AU - Jasonni, V.
PY - 2004/9
Y1 - 2004/9
N2 - Background/purpose The Currarino syndrome (CS) is a peculiar form of caudal regression syndrome (CRS) characterized by the association of hemisacrum, anorectal malformation (ARM), and presacral mass. The authors analyzed retrospectively their series, and they propose a multidisciplinary diagnostic and therapuetic protocol that until now has not been introduced. Methods A series of 6 patients with CS is presented. Five of them were treated initially in other centers. None of them had an early diagnosis. All presented associated anomalies; in 50%, Hirschsprung's disease (HD) and other dysganglionoses were present. One patient died of a presacral ectopic nephroblastoma. Results Depending on the expressivity, 3 types of CS can be identified, complete, mild, and minimal. Dysganglionoses and HD can be considered part of CS. A multidisciplinary diagnostic and therapeutic protocol is presented. Main points are sacrum x-Ray, molecular genetic diagnosis, radiologic evaluation of every member of CS families, magnetic resonance (MR) evaluation of patient spine and pelvis, suction rectal biopsies, and search for associated anomalies. Conclusions This protocol could give a valid contribution to the treatment of CS, allowing an early diagnosis and proposing a rational timing of multidisciplinary surgical procedures. Early diagnosis and treatment are essential to avoid morbidity and mortality from an undiagnosed presacral mass.
AB - Background/purpose The Currarino syndrome (CS) is a peculiar form of caudal regression syndrome (CRS) characterized by the association of hemisacrum, anorectal malformation (ARM), and presacral mass. The authors analyzed retrospectively their series, and they propose a multidisciplinary diagnostic and therapuetic protocol that until now has not been introduced. Methods A series of 6 patients with CS is presented. Five of them were treated initially in other centers. None of them had an early diagnosis. All presented associated anomalies; in 50%, Hirschsprung's disease (HD) and other dysganglionoses were present. One patient died of a presacral ectopic nephroblastoma. Results Depending on the expressivity, 3 types of CS can be identified, complete, mild, and minimal. Dysganglionoses and HD can be considered part of CS. A multidisciplinary diagnostic and therapeutic protocol is presented. Main points are sacrum x-Ray, molecular genetic diagnosis, radiologic evaluation of every member of CS families, magnetic resonance (MR) evaluation of patient spine and pelvis, suction rectal biopsies, and search for associated anomalies. Conclusions This protocol could give a valid contribution to the treatment of CS, allowing an early diagnosis and proposing a rational timing of multidisciplinary surgical procedures. Early diagnosis and treatment are essential to avoid morbidity and mortality from an undiagnosed presacral mass.
KW - Anorectal malformations
KW - Currarino syndrome
KW - Hirschsprung's disease
KW - meningocele
KW - sacrum
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U2 - 10.1016/j.jpedsurg.2004.05.003
DO - 10.1016/j.jpedsurg.2004.05.003
M3 - Article
C2 - 15359381
AN - SCOPUS:4444219578
VL - 39
SP - 1305
EP - 1311
JO - Journal of Pediatric Surgery
JF - Journal of Pediatric Surgery
SN - 0022-3468
IS - 9
ER -