Department of Pediatrics, Tishreen University Hospital, Lattakia, Syria.
Department of Internal Medicine, Tishreen University Hospital, Lattakia, Syria.
BMC Pediatr. 2021 Oct 11;21(1):449. doi: 10.1186/s12887-021-02897-5.
Chylomicron retention disease (Anderson disease) is a result for variant of the SAR1B gene. It is a rare autosomal recessive hereditary disorder with most incidence in infant. It is characterized by lipid malabsorption syndrome with fatty, chronic diarrhea, and growth retardation.
We report a case of a 19-month Syrian boy who presented with vomiting, growth failure, and chronic, fatty diarrhea. Upper gastrointestinal endoscopy showed whitish appearing duodenal mucosa and small intestinal biopsies revealed steatosis of enterocytes. Genetic testing confirmed chylomicron retention disease with the first description of variant located in the fourth helix of sar1b protein. The patient is treated with nutritional supplements and fat-soluble vitamin supplementation resulting in significant improvement.
Early endoscopy is recommended in infants with persistent vomiting and failure to thrive due to high suspicion for a disorder of hypocholesterolemia. Early diagnosis and treatment are essential to avoid serious clinical complications, especially neurological impairment.
乳糜微粒滞留病（安德森病）是 SAR1B 基因突变的结果。这是一种罕见的常染色体隐性遗传性疾病，大多数发生在婴儿期。其特征为脂类吸收不良综合征，表现为脂肪泻、慢性腹泻和生长迟缓。
我们报告了一例 19 个月大的叙利亚男孩，因呕吐、生长不良和慢性脂肪性腹泻就诊。上消化道内镜显示十二指肠黏膜呈乳白色外观，小肠活检显示肠细胞脂肪变性。基因检测证实为乳糜微粒滞留病，首次描述的变异位于 sar1b 蛋白的第四螺旋中。患者接受营养补充和脂溶性维生素补充治疗，病情显著改善。
由于对低胆固醇血症相关疾病的高度怀疑，对于持续呕吐和生长不良的婴儿建议早期进行内镜检查。早期诊断和治疗对于避免严重的临床并发症，特别是神经损伤至关重要。
