Currarino triad--diagnostic dilemma and a combined surgical approach.

PURPOSE The authors present 2 families with 3 cases of Currarino triad, diagnostic difficulties, their familial occurrence, and genetic mapping, with emphasis on a combined pediatric surgical and pediatric neurosurgical approach in managing these children. RESULTS The main presentation was intractable constipation. In the first family there was a 4-generation pedigree with recurrence of Currarino triad. The mother and the child have the condition. Family 2 screening showed a 3-generation pedigree with presence of Currarino triad in 3 members. Patients 2 and 3 are cousins whose fathers are affected by spina bifida occulta and Currarino triad, respectively. In patient 1, the diagnosis was made after inadvertent rupture of an anterior meningocele during posterior myectomy. In patient 2, the presacral mass was found on examination under anesthesia, and the planned anorectal myectomy for intractable constipation was abandoned. Patient 3 was a cousin of patient 2, and the diagnosis was considered when she presented with intractable constipation at the age of 7 months. Magnetic resonance scan was useful in showing the presence of presacral mass, spinal abnormalities, and tethered cord. A combined pediatric and neurosurgical approach optimized the extirpation of the presacral mass with minimal complications. Surgical treatment was individualized according to the estimation of the operative risk factors. All patients have a normal bladder function. Patient 1 has required laxatives and enemas for intermittent constipation. She has associated learning difficulties but is otherwise well. Patient 2 and 3, aged 10 and 2 years, respectively, are awaiting closure of colostomy. They are thriving and well. CONCLUSIONS The authors recommend a combined pediatric and neurosurgical assessment and management for all cases of Currarino triad. Family screening is obligatory. The authors suggest the use of a magnetic resonance scan or computerized axial tomography myelogram to define the presence of anosacral and spinal cord anomalies in patients with intractable constipation.