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Oral Presentation - 148
Rectal Exstrophy with Genitourinary, Vertebral and Limb Anomalies: Saleem’s Rectal Extrophy Hypospadias Syndrome
Muhammad Saleem 1, umer saleem 2, Azka Saleem 3, Jamaal Butt 3, Gohar Rasheed 3, Nabila Talat 3, Muhammad Zubair Shoukat 3, Imran Hashim 3
1 Akhtar Saeed Medical & Dental College, Lahore
2 services institute of medical sciences lahore
3 University of child health sciences, The Childrens Hospital, Lahore
Introduction: Extrophy of rectal mucosa as mass in the perineum associated with genitourinary anomalies like hypospadias, scrotal transposition, vertebral and kidney anomalies is extremely rare congenital malformation syndrome. Only few cases are reported in literature.
Case Series Presentation : We are reporting case series of six patients who presented with age range of 1 day to 2 years with extrophied rectal mucosa like a mass in the perineum with variable degree of genitourinary and spinal malformations over a period of 16 years. All patients were male and had hypospadias, extrophied rectal mucosa, and bifid scrotum. Only one patients had vesical extrophy along with bilateral inguinal hernia and while other patient had sacral meningocele associated with rectal extrophy. One case had absent one kidney and other case had non functional one kidney with ectopic ureter in the perineal mucosal mass. One patient had lower limb anomaly. In two patients initially colostomy was performed. After investigating these patients, we repaired four out of six cases with excision of extrophied rectal mucosa, repair of perineum by approximating perineal muscles separating the anus and urethra, releasing chordee by Bracka 1 if applicable and performing urethroplasty by Bracka II or Byar’s method. Scrotal transpositioning along with anal transposition was carried out. Hernioraphy and repair of vesical extrophy was performed. Two had completed all of procedures and other two just need stoma closure as last procedure. Two patients left against medical advice before investigations and reconstruction.
The surgical approach in these cases required individualized planning based on the severity of anomalies. Excision of the extrophied mucosa, perineal reconstruction, urethroplasty, and scrotal repositioning formed the mainstay of management.
Conclusion: This case series highlights an exceptionally rare anomaly syndrome. A multidisciplinary approach involving staged reconstructive surgeries yields satisfactory outcomes, although long-term follow-up remains essential for functional assessment.