Background: Primary intestinal lymphangiectasia (PIL) is a rare congenital protein-losing enteropathy caused by dysplasia of the small intestinal lymphatics. The cause of the disease is unknown. Through a literature review, we found that PIL and tuberous sclerosis complex (TSC) have some common symptoms and molecular pathways.
Case summary: Here, we present the case of a patient with a three-year history of primary intestinal lymphangiectasia. The patient most recently visited the hospital with abdominal distension and swelling of the left leg. His mother told us that she was diagnosed with TSC one year previously, which alerted us because the patient had multiple regions of pigmentation. To evaluate the condition of the child and make a definite diagnosis, multiple imaging examinations were performed, as was TSC gene analysis. The results met the diagnostic criteria for TSC. The patient was discharged after symptomatic treatment. Through a review of the literature, it can be seen that changes at the molecular gene level of TSC can lead to abnormal lymphatic vessels.
Conclusion: In summary, when patients with hypomelanotic macules or enamel hypoplasia are diagnosed with PIL, TSC gene screening may be important for further diagnosis.
Keywords: Case report; Children; Hypoproteinemia; Lymphedema; Primary intestinal lymphangiectasia; Tuberous sclerosis complex.
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