A case of Crohns with poor treatment response
Dr Mehak ,DrBhanu VikramanPillai ,DrAnupa Thomas ,DrRekhaHari ,DrCJayakumar
Sixteen year old male boy who had history of recurrent episodes of passage
of loose stool presented with history of increased frequency of
loose stools with no blood or tenesmus up to 10times since 10 days
He was tired looking and marasmic in appearance at presentation with
anthropometric parameters revealing-grade
with both weight and height more than-2SD . Vitals were normal but pale
and a perianal skin tag.
Labs
Neutrophilic leukocytosis
CRP of 123.96mg/L.
Differentials
Immuno deficiency Both acquired and Congenital
TB enteritis
Malabsorption
Clostridium difficile infection
Celiac disease
Inflammatory bowel disorders
Irritable bowel syndrome
Stool culture was negative.
USG abdomen normal
Clostridium difficile assay negative
EBV IgM negative
CMV equivocal
GeneXpert negative.
Celiac disease rule out IgA total and Tissue trans glutaminase assay
HIVnegative
This boy with past history of similar illness was apparently asymptomatic till 10 years of age when he first presented with a painful pustule in the perianal region and with foul smelling purulent discharge. Child was treated with antibiotics and excision is the abscess
But imageology showed evidence of a
fistula in the perianal region.
Colonoscopy was performed which found
early apthae in left colon and upper GI scopy done revealed pan gastritis,
Biospy was taken which was suggestive of H pylori gastritis and child was treated for
the same.
Later, there was intermittent discharge from the fistula and the child
started having 5-6 episodes of loose stools in a day every month. He was reevaluated for IBD and a repeat colonoscopy found mild proctitis with small ulcerations in the ileum and ileitis.
TB ileitis was considered and geneXpert TB and TB cultures were sent which were
found to be negative.
Repeat biopsy found acute duodenitis, chronic mild active gastritis, mild chronic
focal active ileitis and histiocytic
aggregates.
Based up on this possibility of early IBD was considered and started
on Methotrexate 10mg titrated to 15mg. He was maintained on this therapy for 4 years during which flat up occurred with 7-8 episodes of loose stools with no blood
After 13 years of age, he has not not been attending school due to the limitations imposed his disease.
At 14 years of age, he was started on
thalidomide and prednisolone.
Later, as there was intermittent passage of blood in stools,Azathioprine was added which he has been taking daily since 2 years along with oralBudesonide.
A trial of 2 weekly Adalimumab injections was tried at 14years of age for 17 weeks. Later, child was also treated with Infliximab andVedolizumab as repeat assessment showed poor clinical and endoscopic healing.
CT Abdomen and Pelvis and MRI Pelvis
done were suggestive of diffuse colonic
disease with pseudopolyps, sparing the rectum.
In view of the refractory status of the
disease, whole exome sequencing was done to rule out monogenic variant of Crohns and found to have XIAP
hemizygous mutation and since then the curative treatment option of allogenic SCT has been discussed and planned.
While IBD is very rare in children, in this boy rapid deterioration is noted with extensive
intestinal involvement.
It is imperative to classify the severity of the disease and upgrade treatment, with the aim of achieving mucosal healing
Patients are therefore being started on monoclonal antibodies even at diagnosis and later maintained on steroids or other
immunosuppressives after achieving remission.
Holistic management of the case demands psychosocial support and
assessment of limitation of normal activity for that age.
Assessment of vitamin
deficiencies, anemia and growth failure is also imperative. Repeat assessment of
disease activity with colonoscopy and OGD scopy is need in almost all cases
Carry home message
Crohns has to be differentiated from TB all means and when they don’t respond it is imperative to check your gene in this era to pinpoint the problem