腸潰瘍と続発性アミロイドーシスを合併したChediak-Higashi症候群の1例

Chediak-Higashi Syndrome Associated with Intestinal Ulceration and Secondary Amyloidosis, Report of a Case

要旨　Chediak-Higashi症候群の経過中，特異な消化管の潰瘍性病変を認め，同時に続発性アミロイドーシスをも証明しえた1例を経験した．患者は24歳，女性．生下時より皮膚蒼白があり，口内炎，化膿疹などを繰り返す．好中球遊走能低下，好中球内peroxidase陽性巨大顆粒を認め，Chediak-Higashi症候群と診断された．1984年腹痛を訴え，消化管の検査の結果，回腸末端～結腸に狭窄と多発する潰瘍を認めた．潰瘍は類円形で浅く，周囲に花冠状の発赤を伴っていた．1986年9月，内視鏡的生検によって全消化管からアミロイドの沈着を証明した．X線および内視鏡上，十二指腸と空腸にアミロイドーシスに基づくと思われる粗糙な粘膜像を認めた．

　A 24-year-old female was admitted to our hospital because of nausea and abdominal pain. She had been diagnosed as having Chediak-Higashi syndrome at age 15 based on such findings as partial albinism, recurrent aphthous stomatitis, skin infection, reduced chemotactic activity, and peroxidase positive megainclusion bodies of the leukocytes. Abdominal symptoms started in 1984 with barium enema study showing narrow and short ileocecal region and multiple round-shaped ulcers in the transverse, descending colon and terminal ileum. In September, 1986 upper GI endoscopy disclosed gastric and duodenal erosions due to amyloid deposition which was demonstrated on biopsy.

　During the hospitalisation the lesions in the colon and terminal ileum were shown to remain unchanged on barium enema. A double contrast study of the small intestine showed slightly coarse mucosa and irregularities of the Kerckring's folds in the upper jejunum which were compatible with intestinal amyloidosis. Hypotonic duodenography and duodenoscopy showed coarse and granular mucosa in the duodenum with scattered erosions. The intestinal ulcerations were considered to be a part of manifestations of Chediak-Higashi syndrome because the amyloid deposition in the colon was much less extensive than that in the duodenum or jejunum histologically. In conclusion, our diagnosis was Chediak-Higashi syndrome with intestinal ulceration and secondary amyloidosis. This is the first case ever reported of rare occurrence of amyloidosis in a patients with Chediak-Higashi syndrome.