Preoperative enzymo-histochemical diagnosis of dysganglionoses associated with anorectal malformations (ARM) with recto-vestibular and recto-perinealfistula

The posterior sagittal anorectoplasty (PSARP) is widely recognized as the b est technique available today for the surgical treatment of anorectal malfo rmations (ARM). However, different retrospective studies on the functional results of PSARP in the treatment of ARM have shown different postoperative degrees of constipation; In particular even in patients with normal sacrum , about 70 % of operated ARM with vestibular fistula and about 50 % with pe rineal fistula can be complicated by fecal constipation and pseudoincontine nce. In order to identify preoperatively whether ARM patients present abnormal i nnervation patterns of rectal pouch and fistula (as reported by Holschneide r et al [7]), we decided to study suction rectal biopsies performed by intr oducing SBT-100 rectal suction biopsy tool into the fistula at 6, 4, 3 and 2 cm from the meatus. To date, this approach has been adopted in 22 ARM cas es (15 females and 7 males, age range 7 days - 4 years), 6 of them with rec to-vestibular fistula and 13 with recto-perineal fistula. Biopsies were fro zen in isopentane at liquid nitrogen temperature and cryostatic sections we re studied by acetylcholinesterase (AChE), succinic-dehydrogenase (SDH) and alpha-naphthyl-esterase (ANE) enzymo-histochemical techniques. The results concerning the innervation-type of fistula and proximal rectal pouch were confirmed by the biopsies obtained during PSARP. Our overall incidence of rectal innervation intrinsic disorders was 81.82 % . In particular, all our cases of vestibular fistula presented associated d ysganglionoses. The incidence of associated Hirschsprung's disease was high , corresponding to 18 % of cases. Our results suggest that the high frequen cy of constipation in low forms of ARMS depends on primary intestinal neuro nal malformations and it cannot be ascribed to a denervation secondary to r ectal dissection and to PSARP procedure. We propose the introduction of thi s type of preoperative enzymo-histochemical diagnosis in ARM cases because it can select those patients with severe associated dysganglionoses. In our opinion, if this diagnosis is available preoperatively, PSARP can be perfo rmed without using abnormally innervated-structure and reducing postoperati ve functional complications.