Primary intestinal lymphangiectasia in a 26-month-old girl: Diagnostic challenges and treatment with octreotide

Primary Intestinal Lymphangiectasia [PIL) is a rare disease characterised by an abnormal intestinal lymphatic system, resulting in plasma, protein, and lymphocyte loss in the gastrointestinal tract. It is typically diagnosed in patients younger than 3 years old. Diagnosis is often delayed due to features similar to those of other causes of recurrent diarrhoea. A 26-month-old girl presented with recurrent diarrhoea, and occasionally mucous and greasy stools. Recurrent episodes of diarrhoea have been associated with poor weight gain since 4 months of age and abdominal distension. Peripheral edoema was observed in the lower limbs and face at the age of 9 months. Physical examination revealed abdominal distension. Her body weight was 6 kg [WAZ <-3 SD), length was 76 cm [WAZ <-3 SD] The laboratory revealed hypoalbuminemia [2.53 gm/ dL), hypoglobulinemia [2.4 gm/dL), and lymphopenia [13%] Ultrasonography of the abdomen showed ascites. Esophagogastroduodenoscopy revealed punctate white lesions in the duodenal mucosa, and biopsy of the duodenum showed dilated lymphatic channel with no evidence of inflammation. The patient was treated with octreotide, low-fat diet with medium chain fatty acids, and supplementation of fat-soluble vitamins. She responded to the treatment and improved symptomatically. Endoscopic examination and histopathology are important in confirming diagnosis. Lifelong diet therapy with high protein and medium-chain tryglicerides is the main therapy to maintain good growth and development.