Anorectal malformations, associated congenital anomalies and their investigation in a South African setting

This study was undertaken to investigate the types of anorectal malformations (ARM), incidence of associated abnormalities and investigative methods used in patients treated at Red Cross War Memorial Children's Hospital and to determine whether these are in keeping with recent literature. Mortality rates were also reviewed.

A retrospective review of patients with ARM between 1993 and 2016 was undertaken. Clinical notes were reviewed and correlated with radiology and cardiac databases. Abnormalities were grouped according to genitourinary, musculoskeletal, gastrointestinal and cardiovascular systems. The data were separated into three periods to ascertain whether the workup strategy had changed over the years.

A total of 282 patients were included. There were 134 (47.5%) high and 116 (41.1%) low lesions and unspecified in 32 (11.3%) patients. There were 59 (20.9%) vestibular fistulae, 46 (16.3%) combined rectourethral fistulae (rectoprostatic, rectobulbar and unspecified rectourethral) and 42 (14.9%) perineal fistulae. Associated abnormalities were detected in 152/221 (69%). Abnormalities were: Genitourinary 88/204 (43.1%), musculoskeletal 80/188 (42.5%), cardiac 44/218 (20.1%) and gastrointestinal 12/216 (5.6%). Twenty patients demised.

Vestibular fistulae were most common followed by rectourethral and perineal fistulae. Musculoskeletal and genitourinary abnormalities were the most common associated findings. The mortality rate was 7% and cardiac lesions contributed to mortality. As knowledge of ARM improved, so has awareness of associated malformations. This has led to improved, more active workup, in keeping with the latest literature.