背景:原发性肠淋巴管扩张症是一种极为罕见的疾病。流行病学未知。通常表现为下肢肿胀,腹泻,腹水,和蛋白质丢失性肠病.由于水肿的发病机理通常是由于低蛋白血症;通常涉及两个四肢。水肿很少是由于淋巴循环异常,引起淋巴水肿,这通常也涉及到两个四肢。诊断是由临床的星座,生物化学,内窥镜,和组织学发现。治疗包括饮食调整,减少对膳食脂肪的反应的淋巴扩张。其他药理学(例如,奥曲肽)和替代措施也可能需要说明。最严重的长期并发症是肠淋巴瘤。这是一例原发性肠淋巴管扩张症,表现为单侧下肢肿胀。
方法:一名4岁男孩从4个月大开始出现左脚肿胀,除了间歇性腹泻,还有腹部肿胀.过去曾由不同的医疗保健专业人员评估过脚部肿胀,被错误标记为蜂窝织炎,或先天性半增生。体格检查发现轻度腹水,和无凹陷性足部水肿,有阳性Stemmer标志(淋巴水肿)。血液检查显示低蛋白血症(白蛋白2g/dl),和低丙种球蛋白血症.内窥镜检查显示整个十二指肠的乳汁扩张。组织病理学检查显示十二指肠活检组织中固有层淋巴管大量扩张。患者被诊断为原发性肠淋巴管扩张症。他接受了高蛋白低脂饮食治疗,和补充配方中链甘油三酯高。关于后续行动,病人的腹泻完全解决了,腹水和水肿明显改善。
结论:单侧下肢水肿的存在不应排除全身性疾病的诊断,非典型演示文稿需要高度怀疑。了解原发性肠淋巴管扩张症的表现,区分水肿或淋巴水肿与组织过度生长的身体检查技能可以显着帮助诊断。
BACKGROUND: Primary intestinal lymphangiectasia is an exceedingly rare disorder. Epidemiology is unknown. It usually presents with lower extremity swelling, diarrhea, ascites, and protein-losing enteropathy. Since the pathogenesis of edema is usually due to hypoalbuminemia; both extremities are typically involved. The edema can rarely be due to abnormal lymphatic circulation, causing lymphedema, which usually involves both extremities as well. Diagnosis is made by the constellation of clinical, biochemical, endoscopic, and histological findings. Treatment involves dietary modification, to reduce lymphatic dilation in response to dietary fat. Other pharmacologic (e.g., octreotide) and replacement measures may be indicated as well. The most serious long-term complication is intestinal lymphoma. Herein is a case of Primary intestinal lymphangiectasia presenting with unilateral lower limb swelling.
METHODS: A 4-year-old boy presents with left foot swelling since the age of 4 months, in addition to intermittent diarrhea, and abdominal swelling. The foot swelling had been evaluated by different health care professionals in the past, and was mislabeled as either cellulitis, or congenital
hemihyperplasia. Physical examination revealed mild ascites, and a non-pitting foot edema with a positive Stemmer\'s sign (lymphedema). Blood work revealed hypoalbuminemia (albumin 2 g/dl), and hypogammaglobulinemia. Endoscopy showed dilated lacteals throughout the duodenum. Histopathologic examination revealed massively dilated lamina propria lymphatics in the duodenal biopsies. The patient was diagnosed with primary intestinal lymphangiectasia. He was treated with high-protein and low-fat diet, and supplemental formula high in medium chain triglycerides. On follow-up, the patient\'s diarrhea completely resolved, and his ascites and edema improved significantly.
CONCLUSIONS: The presence of unilateral lower limb edema should not preclude the diagnosis of systemic disorders, and a high index of suspicion is required in atypical presentations. A good knowledge about Primary intestinal lymphangiectasia manifestations, and physical examination skills to differentiate edema or lymphedema from tissue overgrowth can significantly aid in the diagnosis.