The Currarino triad: the variable expression.
BACKGROUND
The Currarino triad is a relatively unknown hereditary disorder linked to the 7q36 region and characterized by an anorectal malformation, sacrococcygeal defect, and a presacral mass.


OBJECTIVE
The aim of the study was to report the highly variable expression in patients with the Currarino triad and provide a guideline for the clinician if the Currarino triad is suspected.


METHODS
We examined the symptoms and associated anomalies in 5 families with the Currarino triad by retrospective chart review.


RESULTS
Fifteen patients had Currarino-associated anomalies. This included anorectal malformation in 9, a presacral mass in 9, and a sacral bone defect in 15. Tethered cord was present in 4 patients. There were 12 symptomatic patients. Constipation was diagnosed in all of them. Other symptoms included recurrent urinary tract infections caused by bladder dysfunction in 5, abnormal gait in 1, and another patient who initially presented with meningitis. Two carriers of the genetic defect had no symptoms or anomalies.


CONCLUSIONS
The phenotypical expression of the gene mutations causing the Currarino triad can vary from asymptomatic to patients presenting with the complete triad. Presence of a crescent-shaped defect of the sacral bone may be used as initial screening method. As the penetration of the genetic defect is variable, DNA screening is the only method to fully exclude the triad.
Emans
Pieter J
PJ
Department of Pediatric Surgery, University Hospital, 6202 AZ Maastricht, The Netherlands.
Kootstra
Gauke
G
Marcelis
Carlo L M
CL
Beuls
Emile A M
EA
van Heurn
L W Ernest
LW
D000015:Abnormalities, Multiple; D001003:Anal Canal / Q000002:abnormalities*; D025063:Chromosome Disorders / Q000150:complications*; D002897:Chromosomes, Human, Pair 7; D003248:Constipation / Q000209:etiology; D005260:Female; D015870:Gene Expression; D005799:Genes, Dominant; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008297:Male; D008591:Meningomyelocele; D010375:Pedigree; D012007:Rectum / Q000002:abnormalities*; D012189:Retrospective Studies; D012447:Sacrum / Q000002:abnormalities*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics; D001745:Urinary Bladder Diseases / Q000209:etiology; D014552:Urinary Tract Infections / Q000209:etiology
D018398:Homeodomain Proteins; C490003:MNX1 protein, human; D014157:Transcription Factors