Li Dongdan, Zhang Tianzhuo, Ye Xiaolin, Yu Feihong, Guan Dexiu, Huang Hongmei, Wu Jie
Department of Clinical Nutrition, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Department of Gastroenterology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Transl Pediatr. 2025 Aug 31;14(8):1896-1907. doi: 10.21037/tp-2025-187. Epub 2025 Aug 26.
Little is known about primary intestinal lymphangiectasia (PIL) in Chinese children. Insufficient awareness can lead to delayed diagnosis and treatment, which may adversely affect the prognosis of affected children. This study aimed to investigate the clinical features and treatment outcomes for PIL in infants and young children in China, providing a basis for clinical diagnosis and treatment.
This is a single-center retrospective study. The clinical information of children was gathered and a retrospective analysis was conducted on the clinical manifestations, potential complications, nutritional conditions, laboratory findings, imaging tests, endoscopic and pathological assessments, treatment outcomes, and other relevant parameters of infants and young children diagnosed with PIL.
A total of 42 cases of infants and young children with PIL were analyzed, and it was found that PIL was most frequently diagnosed in infants under 1 year of age (95.2%). All of the children presented with diarrhoea. Other manifestations were limb edema in 37 cases (88.1%) and lymphatic effusions in 20 cases (47.6%). Tetany and generalized convulsions were reported in 35.7% of children, with a high prevalence. Concurrent infections were identified in 73.8% of cases, primarily respiratory infections and sepsis. Ten children (23.8%) were malnourished at their initial visit, presenting with stunting, wasting and underweight status. Anemia (54.8%) and electrolyte imbalances (100%) were prevalent, particularly hypomagnesemia (88.1%). Imaging studies revealed intestinal protein loss, predominantly in the jejunum and above. The predominant endoscopic appearance was of scattered white snowflakes or granules in the duodenum. Some patients with normal endoscopic duodenal findings showed typical lymphatic dilatation on histopathology. Treatment involved diet and nutrition adjustment, albumin infusion, electrolyte correction and anti-infective therapy, resulting in improvement in 39 cases and ineffectiveness in 3 cases upon evaluation.
In our cohort of infants and young children, PIL was mainly diagnosed in infants under 1 year of age (95.2%). The main symptoms were diarrhea (100%) and edema (88.1%). There was a notable prevalence of limb convulsions (35.7%), anemia (54.8%) and hypomagnesemia (88.1%). The majority of infants and toddlers (92.9%) diagnosed with PIL showed positive outcomes with dietary and pharmacological intervention.
中国儿童原发性肠淋巴管扩张症（PIL）的相关情况鲜为人知。认识不足可能导致诊断和治疗延迟，这可能对患病儿童的预后产生不利影响。本研究旨在调查中国婴幼儿PIL的临床特征和治疗效果，为临床诊断和治疗提供依据。
这是一项单中心回顾性研究。收集儿童的临床信息，并对诊断为PIL的婴幼儿的临床表现、潜在并发症、营养状况、实验室检查结果、影像学检查、内镜及病理评估、治疗效果及其他相关参数进行回顾性分析。
共分析42例婴幼儿PIL病例，发现PIL最常见于1岁以下婴儿（95.2%）。所有患儿均有腹泻表现。其他表现包括37例（88.1%）肢体水肿和20例（47.6%）淋巴积液。35.7%的患儿有手足搐搦和全身性惊厥，患病率较高。73.8%的病例并发感染，主要为呼吸道感染和败血症。10例患儿（23.8%）初诊时营养不良，表现为发育迟缓、消瘦和体重不足。贫血（54.8%）和电解质紊乱（100%）普遍存在，尤其是低镁血症（88.1%）。影像学研究显示肠道蛋白丢失，主要在空肠及以上部位。内镜下主要表现为十二指肠散在的白色雪花状或颗粒状。部分十二指肠内镜检查正常的患者在组织病理学上显示典型的淋巴管扩张。治疗包括饮食和营养调整、输注白蛋白、纠正电解质和抗感染治疗，评估时39例改善，3例无效。
在我们的婴幼儿队列中，PIL主要诊断于1岁以下婴儿（95.2%）。主要症状为腹泻（100%）和水肿（88.1%）。肢体惊厥（35.7%）、贫血（54.8%）和低镁血症（88.1%）的患病率较高。大多数诊断为PIL的婴幼儿（92.9%）经饮食和药物干预后显示出良好效果。
