An Unusual Presentation of Crohn's Disease; A Seven Year Journey to Diagnosis

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Journal of Investigative Medicine





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Case report Crohn’s disease is chronic inflammatory bowel disease (IBD) that presents 1/3 of the time in childhood. It may present abruptly or insidiously with abdominal pain, anal fissures, and hematochezia. It can also present with intermittent fevers, growth failure, malnutrition, and pubertal delay. Paediatricians must have a high index of suspicion given its potential impact. Below we present an unusual case. The patient presented at age 5 with aphthous ulcers and a 10 day history of intermittent fevers up to 104 degrees. He had experienced recurrent episodes of fevers and mouth sores every 4–6 weeks since age 3. He was worked up for Kawasaki’s, Bechet’s, and periodic fever adenitis pharyngitis aphthous ulcer syndrome (PFAPA) and was initially diagnosed with PFAPA. He underwent adenoidectomy and tonsillectomy and was symptom free for one year. His symptoms recurred and he was referred to paediatric rheumatology. Review of symptoms revealed frequent diarrhoea, and a work up for celiac disease and IBD began. A CBC, CMP, ESR, CRP, celiac panel, and IBD diagnostic panel were sent. His lab work was notable for an elevated CRP of 31.2 mg/L and ESR of 21 mm/hr. He was referred to paediatric gastroenterology. At that point his physical exam was unremarkable. He underwent EGD and colonoscopy with biopsies, both of which were normal. He was diagnosed with constipation. Rheumatology treated him with Azathioprine and intermittent corticosteroids whenever aphthous ulcers recurred. By age 10, the patient developed perianal ulcers and crampy periumbilical pain. His physical exam was now positive for periumbilical tenderness. Gastroenterology performed an abdominal MR enterography, faecal calprotectin, and small bowel video capsule study which were normal. A Prometheus IBD diagnostic panel revealed positive anti-CBir1, anti-A4-Fla2, and anti-FLAX IgG. He was subsequently diagnosed with Crohn’s disease, perianal phenotype, and started on Adalimumab. He has since done well with no recurrence of aphthous ulcers or perianal disease. In diagnostically challenging cases it is crucial to keep inflammatory bowel disease as a differential diagnosis and use new serologic testing like the Prometheus IBD panel to assist diagnosis given the impact it may have on a child.


Diagnosis | Medicine and Health Sciences



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