Medium- and Long-Term Outcomes of Per Rectal Endoscopic Myotomy for Hirschsprung’s Disease

Introduction: Hirschsprung's disease (HSCR) is characterized by absence of ganglion cells in the submucosal and myenteric plexus of colon. Surgery—standard treatment but has significant morbidity. Per rectal endoscopic myotomy (PREM) is a novel third space procedure described for treatment of HSCR.

Aim: To evaluate technical outcomes and clinical success (measured as stool frequency, unit laxative usage, and improvement in HSCR Anorectal malformation Quality of life questionnaire [HAQL]) pre- and post-PREM.

Methods: Single-arm, single-center prospective observational study of HSCR patients treated with PREM. HSCR diagnosis: history, contrast enema, anorectal manometry, rectal EMR biopsies. Stool frequency, laxative usage, HAQL before and after PREM were compared.

Results: N = 16 (age 14 [± 14.4] years; 11 male) underwent PREM during a 7-year period. Majority (68.8%): symptoms from birth. Transition zone on barium enema + in all (100%), spastic colonic segment with proximal dilation on colonoscopy in 93.8%. Mean aganglionic segment length was 7.0 cm ± 3.9, RAIR was absent in 11 cases (68.75%), present in 5 cases (31.25%). HSCR subtypes: ultrashort segment (8/16, 50%), short segment (5/16, 31.25%), long segment (3/16, 18.75%). Mean procedure time: 91 minutes ± 28.9, mean length of hospital stay: 3.5 days. Median follow up: 8 months (IQR: 4.5–19.5). Median of the first stool frequency: 2 days (IQR: 2–2.5). Stool frequency: 1 in 4.1 (±1.3) days pre versus 1 in 1.4 (±0.8) days post-PREM (p < 0.0001). Mean laxative usage: 4.7 (±3.8) units of laxative (UL) pre versus 0.8 (±0.9) UL post-PREM (p < 0.0001). HAQL scores of 8.5 (±3.9) pre-PREM improved to 1.3 (±0.9) post-PREM (p < 0.0001) ([Table 1]).

Conclusions: PREM is a safe and effective minimally invasive procedure to treat SS-HSCR. Outcomes are sustained in the long term as demonstrated by improved stool frequency rates, mean laxative use, and HAQL questionnaire.

Table 1 Characteristics at baseline and follow-up (post-PREM)

				N	%
Total subjects				16
Gender		Male		11	68.75
		Female		5	31.25
Age (in years)		mean ± SD; (range min–max)		14 ± 14.4; (1–49)
Duration of symptoms		Since birth		11	68.8
		6 months		1	6.3
		1 year		2	12.5
		2 year		2	12.5
RAIR		Absent		11	68.75
		Present		5	31.25
Ganglion cells		Absent		12	75
		Present		4	25
Length of aganglionic segment in cm		Mean ± SD; median (IQR)		7 ± 3.9; 7 (7)
Length of myotomy in cm				11 ± 3.3; 10 (2)
Time to completion in min				90.9 ± 28.9; 85 (35)
Time to first stool POD in days				2.1 ± 0.7; 2 (2–2.5)
Follow-up duration (in months)				14.4 ± 15.9; 8(4.25–19.25)
Follow-up characteristics				N	%
Need for laxatives post-PREM		Lactitol 13.3 g/day (20 mL/day)—half of the initial dose		3	18.8
		Lactitol 26.6 g/day (40 mL/day)		1	6.3
		Lactulose 6.67 g/day—two-third of initial dose		3	18.8
		PEG 17 g/day—half of the initial dose		2	12.5
		None		7	43.8
Fecal incontinence post-PREM		Complete improvement		2	12.5
		Partial improvement		2	12.5
Comparison of clinical outcomes pre- and post-PREM
	Mean ± SD	Median (IQR)	Mean ± SD	Median (IQR)
	Pre-PREM		Post-PREM		p -Value
Stool frequency	4.1 ± 1.3	4 (2)	1.4 ± 0.8	1 (1)	<0.0001a
Laxative usage	4.7 ± 3.8	4 (4)	0.8 ± 0.9	0.6 (1.3)	<0.0001a
HAQL questionnaire	8.5 ± 3.9	7 (3)	1.3 ± 0.9	1 (1)	0.0001a

Note: Groups where compared using paired t-test where p <0.05 is considered statistically significant.

Publication History

Article published online:
22 April 2024