Crohn's disease in a patient with von Recklinghausen's disease: A rare combination of two disorders with strong genetic background

Abstract

We describe a very rare case of a patient with von Recklinghausen disease who developed Crohn's disease of the ileocecal region at the age of 56. To the best of our knowledge this is the first case described so far in the international literature.Case report: A man with known von Recklinghausen disease started having diarrhoea, abdominal pain and loss of weight at the age of 53. His grand mother, father and two of his three children (boys) also suffered from von Recklinghausen disease. Except for the typical skin lesions his children also developed congenital myopia, glaucoma and hypoplastic lower jaw. Physical examination revealed numerous cafe au lai spots, and subcutaneous nodules of various sizes scattered throughout the whole body, typical of von Recklinghausen disease. A painful mass was palpable in the right ileal fossa. The diagnosis of Crohn's disease was based on the findings of abdominal computed tomography (thickness of bowel wall and ileocecal area, enlargement of lymph nodes), enteroclysis (thickness of bowel folds, turbidity of mesenteric fat), colonoscopy (inflammatory lesions of the cecum and ileocecal valve) and histology of the ileocecal mucosa (severe inflammatory lesions compatible with Crohn's disease). Treatment with steroids and mesalamine resulted in prompt improvement of the situation.Since then the disease continued with exacerbations and remissions of mild to moderate severity which responded well to conservative treatment. The patient was operated on because of obstructive ileus due to the presence of a polypoid mass in the ileocaecal area. Histology of the resected specimen showed that the lesion was actually a large mass of pseudopolyps developing on the ground of Crohn's disease.A few months later his disease was complicated by development of thrombosis of the right subclavicular vein confirmed with Doppler ultrasound. His recovery was uneventful. It is concluded that Crohn's disease could appear on the ground of von Recklinghausen disease. The concurrent existence of the two situations is probably the result of chance. However, this combination of two diseases with strong genetic background further emphasizes the importance of genetic factors involved in the etiopathogenesis of Crohn's disease.