Published online May 26, 2020. doi: 10.12998/wjcc.v8.i10.1995
Peer-review started: February 3, 2020
First decision: March 5, 2020
Revised: April 3, 2020
Accepted: April 21, 2020
Article in press: April 21, 2020
Published online: May 26, 2020
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.
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.
In summary, when patients with hypomelanotic macules or enamel hypoplasia are diagnosed with PIL, TSC gene screening may be important for further diagnosis.
Core tip: We present the case of a patient with a history of primary intestinal lymphangiectasia (PIL). The patient was also diagnosed with tuberous sclerosis complex (TSC). Only two cases of PIL associated with TSC had been reported at the time of this writing, and this report presents the third case. It has been reported in previous cases that PIL patients can exhibit hypomelanotic macules or enamel hypoplasia, which are the clinical features of TSC. Through a review of the literature, it can be seen that changes at the molecular gene level of TSC can lead to lymphatic vessels abnormalities. These findings suggest that PIL may be a manifestation of TSC in some cases.