Neonatal ulcerative colitis associated with Familial Mediterranean fever: a case report

Sag E., Demir F., ERCİN M. E., KALYONCU M., ÇAKIR M.

RHEUMATOLOGY INTERNATIONAL, vol.38, no.1, pp.137-140, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 38 Issue: 1
  • Publication Date: 2018
  • Doi Number: 10.1007/s00296-017-3848-5
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.137-140
  • Keywords: Familial Mediterranean fever, Ulcerative colitis, Neonatal, INFLAMMATORY-BOWEL-DISEASE, TURKISH CHILDREN, GENE-MUTATIONS, MEFV GENE
  • Istanbul University Affiliated: No


Neonatal inflammatory bowel disease (IBD) is a subclass of very early onset IBD that includes children younger than 1 month. It is characterized by more colonic involvement and monogenetic etiology, resistance to classical anti-inflammatory/immunomodulatory treatments and associated with colitis in first-degree family members. Herein we report a 3 month-old girl who was admitted with bloody diarrhea since 10 days of age. Her symptoms persist despite diet elimination. She was diagnosed with neonatal ulcerative colitis (UC) based on clinical, laboratory and histopathological examination. But, she was unresponsive to the immunosuppressive therapy. On the follow-up, she was hospitalized for the high fever two times. Genetic analysis revealed homozygote M694 V mutation. Bloody diarrhea and other clinical findings were improved after colchicine therapy. Neonatal UC associated with Familial Mediterranean fever is an extremely rare condition and to the best of our knowledge our case is the first case in literature. Early diagnosis autoinflammatory disease may prevent complications related to unnecessary immunosuppressive drug usage and the risk of development of amyloidosis associated with autoinflammatory disorders.