Korean J Gastroenterol.  2010 Apr;55(4):256-260. 10.4166/kjg.2010.55.4.256.

Aplastic Anemia with Trisomy 8 and Trisomy 9 in Intestinal Behcet's Disease

• Chung JW
• Cheon JH
• Lee KJ
• Kim JS
• Jang SJ
• Yang WI
• Kim TI
• Kim WH

• KMID: 1792777
• DOI: http://doi.org/10.4166/kjg.2010.55.4.256

Abstract

Behcet's disease is a multisystemic inflammatory disease characterized with recurrent oral ulcer, genital ulcer, and multiple organ involvement. Aplastic anemia is one of the rarest complications of Behcet's disease. There were only several reports about Behcet's disease associated myelodysplatic syndrome worldwide. Moreover, aplastic anemia in intestinal Behcet's disease was rarely reported. Here, we present a case of aplastic anemia with trisomy 8 and trisomy 9 in intestinal Behcet's disease and a review of the literatures. To the authors' knowledge, this is the first case ever reported in Korea.

Keyword

Intestinal Behcet's disease; Anemia, aplastic; Trisomy 8; Trisomy 9

MeSH Terms

Adult
Anemia, Aplastic/complications/*diagnosis
Behcet Syndrome/complications/*diagnosis/genetics
Bone Marrow/pathology
Chromosomes, Human, Pair 8
Chromosomes, Human, Pair 9
Female
Humans
Intestinal Diseases/complications/*diagnosis/genetics
Karyotyping
Tomography, X-Ray Computed
*Trisomy

Figure

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  Fig. 1. Abdominal CT and colonoscopic findings. (A) Mildly enhanced and thickened wall involving terminal ileum suggests gastrointestinal involvement of Behç et's disease (arrows). (B) An excavating ulcer with discrete margin is noted in the terminal ileum (arrow).

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  Fig. 2. Abdominal CT and surgical pathologic findings. (A) Right extended hemicolectomy status. The inflammatory wall thickening and ulceration of small bowel are aggravated, which is suggestive of disease progression. (B) The one of the surgical specimen is a segment of distal ileum, which is 11 cm in length and 4 cm in average diameter. A penetrating ulcer (3×2 cm) and three ulcerative lesions are noted.

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  Fig. 3. Laboratory findings of complete blood counts. Despite of repetitive transfusion, leukopenia, anemia and thrombocytopenia were progressed. HOD, hospital day.

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  Fig. 4. Bone marrow biopsy findings. (A) Nearly fatty marrow shows trilineage panhypo-plasia with scattered hemosider-in-laden macrophages (H&E stain, ×40). (B) No myelofibrosis is observed on reticulin stain (×40).

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  Fig. 5. Cytogenetic study of bone marrow aspiration. This study was performed on Giemsa banded chromosomes obtained from 24 hour-cultured bone marrow cells. Three of twenty seven cells examed, show extrachromosome 8 and 9, karyotype: 48.XX, ＋8, ＋9(3)/46.XX(24).

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