Association of ultrashort segment hirschsprung disease with a rare genetic pathology – townes-brocks syndrome

Abstract

Background. In our case we have find an association of two different pathologies - Townes- Brocks syndrome (TBS) and Hirschsprung’s disease (HD). TBS is a rare autosomal dominant disease (1/250000 newborns), caused by mutation of the gene SALL1. There is approximatively 200 descripted cases in the special literature. The main symptoms are: malformations of the external ear (by dimensions, form, insertion, presense of preauricular rudimentary tags), anorectal malformations (imperforated anus, anal atresia, anal stenosis), heart and renal malformations, limb’s abnormalities (three-articular thumb, syndactyly, overlapping fingers). TBS can be diagnosticated in base of simultaneously presense of major symptoms triad, sometime without genetic research. The Ultrashort Segment HD is a controversial form of aganglionosis wich involves 2-4 cm of distal rectum and anal canal. It is characterized by latent debut, lack of classical radiological interpretation and negative rectoanal reflex by manometry. The treatment of Ultrashort Segment HD is also controversial. Someauthors prefer posterior anal sphincter myectomy, and some prefer excision of the aganglionic segment and pull-through reconstruction. Case report. Here, we present the case of 1-year-old Moldavian boy born with anal atresia (with fistula in situ), low placed and small external ears, three-articular thumbs and overlapping fingers of the legs. Anoplasty was performed at 2-months-old without complications. Further was installed persistent constipation. Imagistic, functional and histological investigations revealed Ultrashort-Segment HD with left megadolichocolon. We performed abdominoperineal resection of left colon by Swenson-Pellerin with coloanal anastamosis. After 6 months postoperatively symptoms of colonic retention or dyssinergic defecation are absent. A karyotype research demonstrated only a normal male chromosome constitution (46XY) with a dense site ADN gh(+)18q, but molecular gene-testing actually cannot be executed in Moldova, and the TBS was established phenotypically in base of major symptoms triad. Conclusions. Association of Ultrashort Segment HD with TBS doesn’t influence the surgical tactic of HD, but represents an interest in treatment, functional and social rehabilitation and staged correction of concomitant malformations.