Crohn's Disease and Neurofibromatosis Type 1: A Rare Association of Two Disorders with Genetic Background - Clinical Presentation

Neurofibromatosis type-1 (NF-1), also known as von Recklinghausen disease, is a common autosomal dominant condition that can be associated with gastrointestinal neoplasms (in 2-25% of patients). We present a man of 45 years old, known with von Recklinghausen NF-1 who was admitted in the Gastroenterology Institute for diffuse abdominal pain and 6 diarrheal stools per day. Physical examination revealed several "cafe au lait" spots and multiple subcutaneous nodules on the trunk and lower limbs, cognitive disturbances and gait impairment. Abdominal palpation indicated right lower abdominal pain. Laboratory findings showed leucopenia with mild hypochromic microcytic anemia and fecal calprotectin=293 mu g/g. Abdominal ultrasound describes thickness of the entire bowel wall and colonoscopy reveals congestive mucosa starting with 35 cm from the anal edge, aphtous ulcers at 60 cm, 80 cm and inflammatory lesions of the cecal region and ileocecal valve. Histopathological examination suggests severe inflammatory-type changes compatible with Crohn's disease (CD) confirmed by laboratory results (significant elevated levels of fecal calprotectin). Upper digestive endoscopy describes aphtous ulcers in the lower third esophagus and pangastritis. Abdominal CT scan shows areas with an inflammatory pattern including the terminal ileum and cecal area, segmentation thickening of the colon, also pleading for CD. Treatment with mesalazine and steroids resulted in prompt improvement of the clinical and endoscopic appearance. Then, the disease evolved with periods of remissions and exacerbations with a good response to the treatment. It is concluded that CD could appear on the ground of von Recklinghausen disease. This association of two diseases with strong genetic background still points the importance of genetic factors involved in the etiopathogenesis of CD.