Currarino syndrome at Rikshospitalet 1961-2012

Currarino syndrome is a rare hereditary condition with constipation as the main symptom. The typical patient has a combination of sacral, anorectal, intraspinal and presacral anomalies. Familial cases most often have a mutation in the MNX1 gene. The majority of Norwegian Currarino patients are treated at Rikshospitalet. This article gives an account of 50 years of experience with the condition.

The study is based on the medical records of patients with Currarino syndrome, as well as some first-degree relatives, from the period 1961-2012. We recorded the results of mutation analysis, X-ray of the sacrum, and ultrasound, MRI and/or CT scans, as well as the treatments administered.

We treated 29 patients over the period in question, and in addition identified seven healthy relatives with a mutation in MNX1 and one relative with a pathognomonic sacral anomaly. There were 15 familial and 14 sporadic cases. Fourteen familial cases and one of the sporadic cases were shown to have a mutation in the MNX1 gene. Phenotypic variation was pronounced, and we saw no obvious correlation between genotype and phenotype. Twenty-six of the patients had constipation and 15 underwent a colostomy. Fourteen patients required neurosurgical and seven urogenital interventions. No patients had malignant disease.

Patients with Currarino syndrome have a highly variable clinical presentation with constipation as the main problem. In patients with a familial syndrome, a mutation in the MNX1 gene can be expected.