| CASE REPORT |
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| Year : 2021 | Volume
: 26
| Issue : 6 | Page : 442-444 |
A rare cause of rectovaginal fistula in early infancy: It is in the genes!
Aravind Swaminathan1, Malathi Sathiyasekaran2, Swathi Padankatti3, Rajiv B Padankatti4, S Arulprakash2, Revathi Raj5
1 Department of Pediatrics, MGM Healthcare, Chennai, Tamil Nadu, India
2 Department of Gastroenterlogy, MGM Healthcare, Chennai, Tamil Nadu, India
3 Department of Pediatrics, Sundaram Medical Foundation, Chennai, Tamil Nadu, India
4 Department of Pediatric Surgery, Sundaram Medical Foundation, Chennai, Tamil Nadu, India
5 Department of Pediatric Hemato-oncology, Apollo Children's Hospital Chennai, Tamil Nadu, India
Correspondence Address:
Dr. Malathi Sathiyasekaran
No: 1, 16th Cross Street, Indira Nagar, Adayar, Chennai, Tamil Nadu
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/jiaps.JIAPS_217_20
Acquired Rectovaginal Fistula (RVF) is rare in infants. Interleukin10/ Interleukin 10 receptor deficiencies are monogenic disorders presenting as aggressive forms of infantile onset inflammatory bowel disease with perianal abscess and fistula. Genetic studies assist in confirming the diagnosis. We present a two month old infant with rectovaginal fistula, severe colitis, failure to thrive and recurrent infections in whom colonoscopy revealed irregular colonic ulcers, and genetic studies confirmed an IL10RB mutation. Hematopoietic Stem cell transplantation is the definitive therapy for this disorder which the child underwent. We report this infant with an acquired RVF with extraintestinal features due to IL10RB mutation to highlight the importance of thinking beyond the local anatomy and looking into the genetic domain.
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