Section of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA
Department of Pathology, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.
BMJ Case Rep. 2024 May 14;17(5):e256999. doi: 10.1136/bcr-2023-256999.
The aetiology of failure to thrive (FTT) in children is broad, of which some conditions are extremely rare. It is important to consider these rarer conditions, especially in the setting of other concerning signs/symptoms or when there is no improvement with conventional treatment. In this case report we highlight such a rare condition-chylomicron retention disease (CRD) as an aetiology of FTT. CRD often presents with non-specific symptoms, resulting in delayed diagnosis which is established by genetic workup and histology from small intestinal biopsies. Despite being rare, CRD needs to be considered as one of the differential diagnoses after ruling out the more common causes of FTT.
儿童生长发育不良(FTT)的病因广泛,其中一些疾病极为罕见。考虑这些罕见疾病很重要,尤其是在存在其他相关体征/症状的情况下,或者常规治疗无效时。在本病例报告中,我们强调了一种罕见的疾病——乳糜微粒滞留病(CRD),它是 FTT 的病因之一。CRD 常表现为非特异性症状,导致诊断延迟,这可以通过遗传检查和小肠活检的组织学来确定。尽管罕见,但在排除 FTT 更常见的病因后,CRD 需要被视为鉴别诊断之一。