Currarino syndrome at Rikshospitalet 1961-2012.

Journal: Tidsskrift For Den Norske Laegeforening : Tidsskrift For Praktisk Medicin, Ny Raekke
Published:
Abstract

Background: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

Authors
Tom Monclair, Tryggve Lundar, Bjarne Smevik, Ingunn Holm, Karen Ørstavik
Relevant Conditions

Syringomyelia, Currarino Triad