Abstract
Major cardovascular anomalies and cutaneous lymphatic defects have been described in both Noonan's and Turner's syndrome.
A 6½ year old male presented with anasarca, chylous pleural effusions, cutaneous lymphatic leakage, ascites and hypoproteinemia. Studies revealed findings consistent with the diagnosis of intestinal lymphangiectasia and a major thoracic lymphatic vessel leak. Investigations included X-ray studies of small bowel, Cr51-chloride turnover, stool fat analysis, small bowel biopsy, and effusion studies for electrolytes, cells, lipoprotein electrophoresis and chylomicron analysis. Low lymphocyte counts and immunoglobulins were also found.
Medium chain triglycerides and a low fat diet corrected the protein loss but a seemingly mild pre-existing cardiac lesion worsened, and dictated the need for corrective pulmonary valve surgery. He died following this procedure.
Post mortem studies revealed severe defects in most of the mesenchymal components of cardiovascular organogenesis. Large lympho-venous shunts were present in the lung, liver and pancreas.
The lymphatic defects int hese patients may not be as benign as once believed, and may be a major cause of failure to thrive.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Vallet, H., Holtzapple, P., Eberlein, W. et al. A metabolica and anatomic study of a case of Noonan's syndrome with intestinal lymphangiectasia. Pediatr Res 5, 389 (1971). https://doi.org/10.1203/00006450-197108000-00075
Issue Date:
DOI: https://doi.org/10.1203/00006450-197108000-00075