Congenital Abnormalities of the Lymphatic System: A New Clinical Classification

Abstract

The numerous clinical presentations of congenital abnormalities of the lymphatic system in children and the confusing terminology used to describe their pathologic diagnoses impede the physician's understanding of the condition. The clinical classification based on the actual symptoms of the congenital problems we have presented here should help the physician identify the specific abnormality and a potential treatment. Future research should concentrate on the specific causes and the treatment of these congenital abnormalities.

Diagnostic dilemma in diagnosing rare cause of protein losing enteropathy: Waldmann's disease

“…The disease is characterized by hypoproteinemia, lymphocytopenia, edema, and ascites. Clinical manifestations may be presented as asymptomatic or fatigue, lower abdominal pain, edema, chylothorax, chronic diarrhea, and ascites 1–6,8 . Iron deficiency anemia and hypocalcemic tetany can be seen 2,8 .…”

“…The treatment protocol depends on the presenting symptoms, localization of the disease, and associated complications. The treatment is based on a diet free of long‐chain lipids, enriched with protein and medium‐chain triglycerides 2–8,11 . But, Ballinger et al stated that it does not always give good results.…”

“…With different presentations, the time of presentation may vary from early childhood to adulthood. Histopathological examination of biopsy taken from the involved part of the intestine demonstrates dilated lymphatics in the mucosa, submucosa, and serosa in the absence of coexisting inflammation, which is used to diagnose primary intestinal lymphangiectasia 2,4,5 . Treatment options range from symptomatic measures such as nutritional supplements to advanced surgical procedures 2,3 …”

“…Histopathological examination of biopsy taken from the involved part of the intestine demonstrates dilated lymphatics in the mucosa, submucosa, and serosa in the absence of coexisting inflammation, which is used to diagnose primary intestinal lymphangiectasia. 2,4,5 Treatment options range from symptomatic measures such as nutritional supplements to advanced surgical procedures. 2,3 We herein reported a three-year-old toddler with primary intestinal lymphangiectasia who presented with periorbital edema, abdominal distension, and bilateral pitting edema, that is, generalized anasarca, which was managed with medium-chain triglycerides, a high protein diet, and a multivitamin with fat-soluble vitamin supplementation.…”

Lymphatic Phenotype of Noonan Syndrome: Innovative Diagnosis and Possible Implications for Therapy

“…Some authors suggest that lymphatic disease in patients with NS may be the sequalae of Central Conducting Lymphatic Anomalies (CCLA) [ 1 , 13 , 14 , 15 , 16 , 17 ]. CCLA is a disease that affects large lymphatic vessels in the middle of the torso, resulting in blockage and subsequent leakage of normal drainage of lymph fluid [ 14 , 18 , 19 ]. CCLA have traditionally been unsuitable for traditional medical and surgical interventions.…”