PDF(Pubmed)
Abstract：
A man in his 30s with intellectual disability presented with 1 month of diarrhoea, weight loss and dyspnoea. Investigations were hampered due to significant anxiety. Laboratory tests detected microcytic anaemia and hypoalbuminaemia. CT demonstrated a fat-containing infiltrate in the mediastinum, mesentery and axillae, and pulmonary ground-glass infiltrates. Biopsy of the axilla showed cystic lymphatic malformations involving adipose tissue and lymph nodes, leading to a provisional diagnosis of generalised lymphatic anomaly. Over the subsequent 4 months, the patient\'s respiratory status deteriorated, leading to type 1 respiratory failure necessitating intubation. After multidisciplinary discussion, a decision was made to trial bevacizumab, an anti-VEGF agent, with subsequent improvement in respiratory status. While intubated, gastroscopy was performed; duodenal biopsies revealed pathognomonic changes of Whipple\'s disease, confirmed on PCR of duodenal and axillae biopsies. This was deemed the most likely unifying diagnosis; antibiotic treatment was commenced, bevacizumab was ceased, and the patient has remained well after 18 months.
摘要：
一名30多岁的智力残疾男子出现1个月腹泻，体重减轻和呼吸困难。由于严重的焦虑，调查受到阻碍。实验室检查发现小细胞性贫血和低白蛋白血症。CT显示纵隔有含脂肪浸润,肠系膜和腋窝,和肺磨砂玻璃浸润。腋窝活检显示囊性淋巴畸形累及脂肪组织和淋巴结，导致一般性淋巴异常的临时诊断。在接下来的4个月里,病人的呼吸状态恶化，导致1型呼吸衰竭，需要插管。经过多学科的讨论，决定试验贝伐单抗，抗VEGF药物,随着呼吸状态的改善。插管时，进行胃镜检查；十二指肠活检显示Whipple病的病理改变，经十二指肠和腋窝活检的PCR证实。这被认为是最有可能的统一诊断；开始抗生素治疗，贝伐单抗停止了，患者在18个月后仍保持良好状态。
