海蓝组织细胞(Sea-bluehistocyte)综合征是一种原发性家族性脂类代谢疾病。较为罕见,现报告1例如下。病例摘要男患,1.5岁。以腹泻、腹胀20余天为主诉入院。腹泻为黄色稀便,每日7～8次,食欲不佳,日渐消瘦,活动受限。入院时体检:发育正常,Ⅱ度营养不良,面色苍白,躯干、四肢可见散在充血性斑丘疹,间有少量出血点。浅淋巴结无肿大。方颅,前囟1×1cm~2,面部可见2～3个蜘蛛痣。心肺正常,腹部高度膨隆, Sea-bluehistocyte syndrome is a primary familial lipid metabolism disease. Rare, now report as follows. Case Summary Male patient, 1.5 years old. To diarrhea, abdominal distension more than 20 days mainly for admission. Diarrhea, loose stools yellow, 7 to 8 times a day, poor appetite, getting thinner, limited activities. Physical examination on admission: normal development, degree II malnutrition, pale, torso, limbs visible scattered congestive rash, a small amount of bleeding between. Shallow lymph nodes without swelling. Square skull, anterior fontanel 1 × 1cm ~ 2, visible facial 2 to 3 spider nevus. Cardiorespiratory normal, bulging abdomen,