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WANG Nan, XIE Yongmei, WANG Zhiling. Two Cases of Behcet's Disease-Like Syndrome with Gene Deficiency in ELF4[J]. Journal of Sichuan University (Medical Sciences), 2024, 55(3): 756-761. DOI: 10.12182/20240560606
Citation: WANG Nan, XIE Yongmei, WANG Zhiling. Two Cases of Behcet's Disease-Like Syndrome with Gene Deficiency in ELF4[J]. Journal of Sichuan University (Medical Sciences), 2024, 55(3): 756-761. DOI: 10.12182/20240560606

Two Cases of Behcet's Disease-Like Syndrome with Gene Deficiency in ELF4

  • The patient 1, a 13-year-old boy, was admitted due to "recurrent oral ulcers for 3 years, abdominal pain for 8 months, and perianal ulcers for 10 days"; The patient 2, a 3-year-old boy, was admitted due to "recurrent abdominal pain, diarrhea, and fever for over 3 months". Genetic testing of both patients revealed "deficiency in ELF4, X-linked" (DEX), and the patients were diagnosed with Behcet's disease-like syndrome due to deficiency in ELF4, accordingly. The patient 1 was successively given intravenous methylprednisolone pulses and oral prednisone and mesalazine for symptomatic treatment. The patient 2 was successively treated with corticosteroids combined with enteral nutrition, as well as oral mercaptopurine. Subsequently, both patients showed improvements in symptoms and were discharged.
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