Hirschsprung disease.

Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in 5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the intestine. Most patients present during the neonatal period with the first meconium passage delayed beyond 24 h, abdominal distension and vomiting. Syndromes associated with HSCR include trisomy 21, Mowat-Wilson syndrome, congenital central hypoventilation syndrome, Shah-Waardenburg syndrome and cartilage-hair hypoplasia. Multiple putative genes are involved in familial and isolated HSCR, of which the most common are the RET proto-oncogene and EDNRB. Diagnosis consists of visualization of a transition zone on contrast enema and confirmation via rectal biopsy. HSCR is typically managed by surgical removal of the aganglionic bowel and reconstruction of the intestinal tract by connecting the normally innervated bowel down to the anus while preserving normal sphincter function. Several procedures, namely Swenson, Soave and Duhamel procedures, can be undertaken and may include a laparoscopically assisted approach. Short-term and long-term comorbidities include persistent obstructive symptoms, enterocolitis and soiling. Continued research and innovation to better understand disease mechanisms holds promise for developing novel techniques for diagnosis and therapy, and improving outcomes in patients.

Manometric findings in relation to functional outcomes in different types of anorectal malformations.

AIMS: To compare anorectal manometry (AM) in patients with different types of anorectal malformations (ARMs) in relation to functional outcomes. METHODS: A single-institution, cross-sectional study. After ethical approval, all patients ≥7years old treated for anterior anus (AA), perineal fistula (PF), vestibular fistula (VF), or rectourethral fistula (RUF) from 1983 onwards were invited to answer the Rintala bowel function score (BFS) questionnaire and to attend anorectal manometry (AM). Patients with mild ARMs (AA females and PF males) had been treated with minimally invasive perineal procedures. Females with VF/PF and males with RUF had undergone internal-sphincter saving sagittal repairs. RESULTS: 55 of 132 respondents (42%; median age 12 (7-29) years; 42% male) underwent AM. Patients with mild ARMs displayed good anorectal function after minimally invasive treatments. The median anal resting and squeeze pressures among patients with mild ARMs (60 cm H2O and 116 cm H2O respectively) were significantly higher than among patients with more severe ARMs (50 cm H2O, and 80cm H2O respectively; p≤0.002). The rectoanal inhibitory reflex was preserved in 100% of mild ARMs and 83% of patients with more severe malformations after IAS-saving sagittal repair. The functional outcome was poor in 4/5 patients with an absent RAIR (BFS≤11 or antegrade continence enema-dependence). Rectal sensation correlated significantly with the BFS. CONCLUSIONS: Our findings support the appropriateness of our minimally invasive approaches to the management of mild ARMs, and IAS-saving anatomical repairs for patients with more severe malformations. LEVEL OF EVIDENCE: III.

Spinal cord anomalies in patients with anorectal malformations without severe sacral abnormalities or meningomyelocele: outcomes after expectant, conservative management.

OBJECTIVE The goal of this study was to determine the significance of spinal cord anomalies (SCAs) in patients with anorectal malformations (ARMs) by comparing the outcomes for bowel function, lower urinary tract symptoms (LUTS), and lower-limb neurological abnormalities to these outcomes in patients with similar ARMs and a normal spinal cord. METHODS The spinal cord MRI records of female patients treated for vestibular and perineal fistula (VF/PF) and male patients with rectourethral fistula (RUF) at a single center between 1983 and 2006 were reviewed. Bowel function and LUTS were assessed by questionnaire. Patients with extensive sacral anomalies or meningomyelocele were excluded. RESULTS Of 89 patients (median age 15 years, range 5-29 years), MRI was available in 90% (n = 80; 40 male patients with RUF), and 80% of patients returned the questionnaire (n = 64; 31 male patients with RUF). Spinal cord anomalies were found in 34%, comprising a filum terminale lipoma in 30%, low conus medullaris in 10%, and thoracolumbar syrinx in 6%. Bowel functional outcomes between patients with SCAs (n = 23) and those with a normal spinal cord (n = 41) were not significantly different for soiling (70% vs 63%), fecal accidents (43% vs 34%), and constipation (57% vs 39%; p = not significant for all). The LUTS, including urge (65% vs 54%), urge incontinence (39% vs 24%), stress incontinence (17% vs 22%), and straining (32% vs 29%) were also comparable between groups (p = not significant for all). No patients developed lower-limb neurological abnormalities. CONCLUSIONS The results suggest that the long-term functional outcomes for patients with SCAs who had VF/PF and RUF may not differ significantly from patients with the same type of ARMs and a normal spinal cord. The results favor a conservative approach to their management in the absence of abnormal neurological findings in the lower limbs.

Long-term bowel functional outcomes in rectourethral fistula treated with PSARP: controlled results after 4-29 years of follow-up: a single-institution, cross-sectional study.

BACKGROUND/PURPOSE: Posterior sagittal anorectoplasty (PSARP) has become the standard surgical treatment for males rectourethral fistula (RUF) at most surgical centers worldwide. We aimed to define the long-term bowel functional outcomes following PSARP for RUF at our institution between 1983 and 2006, with comparison to age- and gender-matched controls. METHODS: Patients were invited to answer a detailed, previously validated Bowel Function Score (BFS) questionnaire by post. Respondents were matched by age and gender to three controls from the general population who had answered identical questionnaires. Case records were reviewed retrospectively for operative details. Ethical approval was obtained. Social continence was defined as soiling or fecal accidents <1/week and no requirement for changes of underwear or protective aids. RESULTS: Of 34 (79%) respondents (median age 19 (range, 4-29) years), 74% had voluntary bowel movements (VBMs), 24% were reliant on anterograde continence enema (ACE) washouts, and 1 patient had a colostomy. Impairment of bowel function was significantly higher in all aspects of fecal control among patients than controls (p<0.001). A statistically significant decline in fecal accidents and soiling was observed with age (p ≤ 0.03). Thirty-one percent of patients with VBMs had constipation managed with diet or laxatives (vs 2% of controls, p=0.0002). Of patients with VBMs followed up for > 12 years (n=20), 50% were completely continent (vs 73% of controls; p=NS). Overall, 76% of respondents were socially continent with or without artificial means in the form of ACE washouts. By BFS score, 39% had a good functional outcome, 27% had a moderate outcome, 9% had a clearly poor score and 24% were living with an ACE. CONCLUSIONS: Our results suggest that in the long-term, functional symptoms remain highly prevalent among patients treated for RUF with PSARP. However, the majority can be expected to achieve social continence, although for some this will require intervention with ACE bowel management. Approximately one third may report VBMs and complete continence.