Abstract:
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.
摘要:
儿童茁壮成长失败(FTT)的病因很广泛,其中一些条件极为罕见。重要的是要考虑这些罕见的情况,特别是在其他有关体征/症状的情况下或当常规治疗没有改善时。在这种情况下的报告中,我们强调了这种罕见的状况-乳糜微粒保留病(CRD)作为FTT的病因。CRD通常表现为非特异性症状,导致延迟诊断,这是通过小肠活检的遗传检查和组织学确定的。尽管罕见,在排除FTT的更常见原因后,需要将CRD视为鉴别诊断之一。