A Rare Case of Ulcerative Colitis with Neurofibromatosis Type 1

Abstract

Concomitant association of histologically proven inflammatory bowel disease (IBD) and neurofibromatosis type 1 (NF1) is a rare finding documented in only 5 adult clinical cases. A 34-year-old woman with known neurofibromatosis was admitted to our department with a 6-month history of intractable bloody diarrhea and abdominal pain. After a thorough clinical examination and paraclinical assessments, including colonoscopy and biopsy, ulcerative colitis (UC) was confirmed as the cause of gastrointestinal bleeding. NF1 is considered an autosomal dominant condition caused by mutations in the NF1 gene, which is located on chromosome 17q11.2 [1]. A wide variety of NF1 mutations have been found in patients with NF1, but no frequently recurring mutation has been identified. Since the pathogenesis of IBD is also associated with genetic make-up, these two entities may be associated with a genetic factor.

Inflammatory Bowel Disease and Primary Sclerosing Cholangitis in a Pediatric Patient With Neurofibromatosis Type 1

“…A review of the literature demonstrates 7 cases (4 female and 3 male) previously reported. [1][2][3][4][5][6] Five cases received a diagnosis of UC, and 2 a diagnosis of Crohn's disease. The mean age of onset of disease was 36 years, with only 2 cases reported in the pediatric age group.…”

“…The literature available on the association of NF1 with IBD is limited to a small number of case reports, and none had comorbid PSC. [1][2][3][4][5][6] We present a review of the published literature on this rare association and add the findings of our patient.…”

The Clinical Spectrum of Inflammatory Bowel Disease Associated With Specific Genetic Syndromes: Two Novel Pediatric Cases and a Systematic Review

“…Twelve articles reported cases of IBD in subjects with other genetic syndromes (44)(45)(46)(47)(48)(49)(50)(51)(52)(53)(54)(55). Seven papers reported eight cases of IBD (three CD and five UC) in patients with NF1 (44)(45)(46)(47)(48)(49)(50), with two pediatric UC cases (48,49). Table 5 illustrates the characteristics and results of these studies.…”