Currarino-Syndrom: Variabilität der bildgebenden Befunde bei 22 molekulargenetisch identifizierten (HLXB9-Mutation) Patienten aus fünf Familien

Abstract

Currarino syndrome should be considered as a differential diagnosis in all patients with chronic constipation since early infancy and its imaging index finding, i. e. a sacrococcygeal defect, should be looked for with plain radiography, first. In positive cases or other phenotypic suspicious constellations molecular genetic analysis for HLBX9 mutations should be the next step. If positive again, this should be followed by complete adequate imaging in the patient as well as by plain sacrococcygeal radiography in, at least, symptomatic family members.

Anterior sacral meningocele infected with Fusobacterium in a patient with recently diagnosed colorectal carcinoma – a case report

“…Currarino proposed this triad as a persistent neuroenteric malformation transmitted autosomal dominantly [ 4 ]. A mutation in the homeobox gene HLXB9 can be causative [ 5 ] and is found in about 50% of these patients [ 6 ]. A few reports describe case series with Currarino triad predominantly in pediatric cohorts [ 2 , 7 ].…”