Clinical characterization of primary intestinal lymphangiectasia in infants and young children: a single-center retrospective analysis in China.

Background: 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. Methods: 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. Results: 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. Conclusions: 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.