Primary intestinal lymphangiectasia presenting as limb convulsions: A case report

BACKGROUND: Primary intestinal lymphangiectasia (PIL) is a rare protein-losing enteropathy characterized by abnormally dilated lymphatic structures, resulting in leakage of lymph (rich in protein, lymphocytes, and fat) from the intestinal mucosal and submucosal layers and thus hypoproteinemia, lymphopenia, hypolipidemia, and pleural effusion. CASE SUMMARY: A 19-year-old Chinese male patient complained of recurrent limb convulsions for the last 1 year. Laboratory investigations revealed low levels of calcium and magnesium along with hypoproteinemia and high parathyroid hormone levels, whereas gastroscopy exhibited chronic non-atrophic gastritis and duodenal lymphatic dilatation. Subsequent gastric biopsy showed moderate chronic inflammatory cell infiltration distributed around a small mucosal patch in the descending duodenum followed by lymphatic dilatation in the mucosal lamina propria, which was later diagnosed as PIL. The following appropriate medium-chain triglycerides nutritional support significantly improved the patient’s symptoms. CONCLUSION: Since several diseases mimic the clinical symptoms displayed by PIL, like limb convulsions, low calcium and magnesium, and loss of plasma proteins, it is imperative to conduct a detailed analysis to avoid any misdiagnosis while pinpointing the correct clinical diagnosis and simultaneously ruling out other clinical aspects in the reported cases without any past disease history. A careful assessment should always be made to ensure an accurate diagnosis in a timely manner so that the patient can be delivered quality health services for a positive health outcome.