Comparing the profile of patients with anorectal malformations and delayed presentation of anorectal malformations in the Johannesburg paediatric colorectal clinic: a retrospective study.

PURPOSE

Delayed presentation of anorectal malformations (ARM) presents clinical challenges, leading to complications and compromised outcomes. This study aimed to compare the profiles and outcomes of patients with delayed presentation of ARM at the Johannesburg Paediatric Colorectal Clinic (JPCC).

METHODS

A retrospective review of patients seen at JPCC between 2018 and 2023 was conducted. Patients diagnosed after 24 h from birth were considered delayed. (Ethics approval M240346).

RESULTS

All 269 ARM patients were included; 128 (56.39%) had delayed presentation. The median age at diagnosis was 5 (2-4015) days, and 155 (55.51%) were male. Patients with delayed diagnosis had fewer comorbidities (50.83% vs 71.13%, p = 0.002) and fewer cardiac abnormalities (24.17% vs. 43.30%, p = 0.004). They also underwent first surgery later (median 9 (1-4170) days; p = 0.005). Among patients with rectoperineal fistulae, 74.51% had delayed diagnosis, compared to 42.86% of males with recto-bladder neck fistulae and 30.77% of females with cloacae (p = 0.38) (p = 0.002). Surgical complications were more frequent in the delayed group (p = 0.027), and 87% underwent stoma fashioning.

CONCLUSION

Delayed ARM diagnosis is associated with increased complications and complex care. Early detection and standardised protocols are essential for improved outcomes.