Abstract
BackgroundCurrarino syndrome is a rare condition characterized by presacral mass, anorectal malformation and sacral dysgenesis.Case presentationWe report the case of a child that presented chronic constipation, encopresis and mycrocephaly. The characteristics were initially compatible with a case of functional constipation and a therapy with polyethylene glycol was prescribed. After a year, because of poor response, a plain abdominal X-ray was performed, detecting sacrum abnormalities. Finally, a CGH-array analysis was performed and a form of Currarino Syndrome caused by a rare 7q36 microdeletion, was diagnosed.ConclusionOccult spinal dysraphism should be suspected in case of poor polyethylene glycol responder constipation, even when evident sacral abnormalities on the physical examination are not detected.
Highlights
Currarino syndrome is a rare condition characterized by presacral mass, anorectal malformation and sacral dysgenesis
Currarino syndrome (CS) is a rare congenital malformation characterized by the triad: presacral mass, anorectal malformation and sacral dysgenesis
It is inherited in an autosomal dominant manner and it is caused by haploinsufficiency of the motor neuron and pancreas homeobox 1 (MNX1) gene on chromosome 7q36 [4]
Summary
Currarino syndrome (CS) is a rare congenital malformation characterized by the triad: presacral mass, anorectal malformation and sacral dysgenesis. The syndrome was first described in 1981 and approximately 300 cases have been documented in the literature [2] It is caused by an abnormal separation of the neuroectoderm from the endoderm [3]. Case presentation A 3-year-old female child has been evaluated at our gastroenterological service for persisting constipation and encopresis. To complete the diagnostic evaluation, the urinary tract was studied with abdominal ultrasound and urodynamic test Because of the association between DPP6 mutations and cardiac arrhythmias, a complete cardiological assessment (electrocardiogram, echocardiogram) was performed, but all these exams resulted in normal range. In the last neurological evaluation of our patient, which was performed when the child was 6 years old, mild behavioral abnormalities have been documented.
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
