Acquired recto-vaginal fistula in infancy is a
rare entity. We report a child with Severe Combined
Immunodeficiency (SCID) who presented to us with an acquired
recto-vaginal fistula.
A 5˝-month-old girl, firstborn of a
non-consanguineous marriage presented with constipation for one
month and passing stools per vaginum for three days. She was
born at full term at our centre, with a birthweight of 3100
grams, to HIV negative parents. Complete physical examination,
including the perineum was noted to be normal at birth. She had
been hospitalised for culture-negative sepsis without meningitis
at day 21 of life and uncomplicated dengue fever at three months
of age. She was on exclusive breastfeeding and had received BCG,
OPV, DPT, and Hepatitis B vaccines with no reactions. There was
no family history of immuno-deficiency disorders or unexplained
infant deaths. There was no history of trauma, surgery or
suspicion of abuse. Her weight was 6.4 kg (0 z score), length
was 59 cm (0 to -2 z score). She had a typical BCG scar.
Examination of the perineum revealed a fistulous opening next to
the vaginal orifice at the nine o’clock position, suggestive of
a recto-vaginal fistula and there was no obvious evidence of
local infection. Systemic examination was otherwise
unremarkable.
Hemogram showed a normal absolute lymphocyte count
(ALC) of 7385 cells/cu.mm. She underwent a diversion colostomy,
and per-operatively was found to have a fistulous tract
extending from the vagina to the rectum by gentle probing. There
was no gross evidence of
inflammation or infection. On post-surgery day 3, she
developed a new-onset fever along with multiple nodular lesions
all over the body and received intravenous
piperacillin-tazobactam and vancomycin for presumed bacterial
sepsis. On day 10, she developed a burst abdomen and underwent a
surgical closure. She was suspected to have an underlying
predisposing condition like primary immunodeficiency or
inflammatory bowel disease. Biopsy of the skin nodule showed
panniculitis suggestive of erythema nodosum.
Xpert MTB/RIF assay of the tissue was positive for
Mycobacterium tuberculosis (MTB) complex with no rifampicin
resistance. HIV ELISA and NBT (Nitro blue tetrazolium) test were
negative. Flow cytometry was suggestive of T-B+NK- type of SCID
[CD4+ T
cell count - 43 cells × 109/l
(9700 -2200 cells × 109/l), CD19+ B
cell count- 2062 cells × 109/l
(390-1400 cells × 109/l)
and CD3
-/CD16+ CD56+ NK cell
count-41 cells × 109/l (130-720 cells × 109/l )]. Her serum immunoglobulin levels were
deficient [IgG -2348
(4669-10673) µmol/l, IgM-77 (41-237) µmol/l, IgA-176 (438-2500)
µmol/l, IgE- 10.9 ( 0.96-842)µg/l]. Whole exome sequencing
revealed a homozygous JAK 3 kinase mutation.
Ophthalmology examination and echocardio-graphy were normal.
She developed severe progressive pneumonia
requiring ventilator support and succumbed despite treatment
with anti-tuberculous drugs, antifungals, anti-biotics, and
co-trimoxazole for a presumed Pneumocystis pneumonia.
Bacterial, fungal, and mycobacterial cultures of the biopsy
tissue, quantitative CMV DNA PCR in blood and Pneumocystis
jirovecii staining of the endotracheal aspirate were
negative. Parents were counselled to undergo genetic screening
and prenatal testing for subsequent pregnancies.
Recto-vaginal fistula, a rare type of anorectal
malformation with abnormal epithelial lined connections between
the rectum and vagina, has an incidence of less than 1% in
children [1]. They can be congenital or acquired. Acquired
causes include trauma or infections in the recto-vaginal septum
such as anorectal abscesses and Bartholin gland infections,
tuberculosis and lymphogranuloma venereum [2]. Rarer causes
include malignancies, inflammatory bowel disease, post-radiation
therapy, and operative traumas. Acquired recto-vaginal fistulas
have been reported to occur in infants with HIV from Africa,
representing an early manifestation of the disease [3-5]. The
postulated pathogenesis is probably, secondary to a low grade
and indolent perianal infection [3]. In the previous case series
in HIV-positive girls, the fistulae were small and extending
anteriorly from the rectum to distal vagina [3]. Most of these
children had evidence of tuberculosis or lymphocytic
interstitial pneumonia in the lung [3]. However, rectal fistulae
in boys with HIV have only been reported rarely [6]. Surgical
closure is usually unsuccessful because of poor wound healing
[4,6].
SCID is a medical emergency as hematopoietic stem
cell transplantation can prevent death in children before
infections occur. Unusual presentations like acquired
recto-vaginal fistula should be kept in mind to expedite
diagnosis and management.
Contributors:
All authors were involved in the case management. JR: wrote the
initial draft; VK,JR: did the literature review; SS,MR: revised
the draft and all authors approve of the final version.
Funding:
None; Competing interests: None stated.
REFERENCES
1. Tiwari C, Shah H, Bothra J,
Sandlas G. Congenital rectovaginal fistula with anorectal
agenesis: A rare anorectal malformation. Int J Pediatr Adolesc
Med. 2017;4:138-40.
2.
Debeche-Adams TH, Bohl JL. Rectovaginal fistulas. Clin
Colon Rectal Surg. 2010;23:99-103.
3.
Borgstein ES, Broadhead RL. Acquired rectovaginal
fistula. Arch Dis Child. 1994;71:165-6.
4.
Hyde GA Jr, Sarbah S. Acquired rectovaginal fistula in
human immunodeficiency virus-positive children. Pediatrics.
1994;94:940-1.
5.
Osifo OD, Egwaikhide EA. Acquired rectovaginal fistula in
babies of unknown and asymptomatic retroviral positive mothers.
J Pediatr Adolesc Gynaecol . 2011;24:e79-82.
6.
Wiersma R. HIV positive African children with rectal
fistulae. J Pediatr Surg. 2003;38:62-4.