RESUMO
To advance the diagnostic accuracy of juvenile polyposis syndrome, an important yet often difficult diagnosis, we describe in detail a new and medically significant presentation. This hereditary and high-risk GI cancer syndrome is often associated with hereditary hemorrhagic telangiectasia, as in this 47-year-old female patient with a SMAD4 germline pathogenic mutation. Total gastrectomy revealed giant gastric folds with inflamed foveolar hyperplasia consuming most of the gastric cardia and body but sparing the antrum. Together, this gross and histologic pathology mimics Ménétrier's disease, an exceedingly rare and acquired protein-losing hypertrophic gastropathy. Classical gastric juvenile polyposis almost always and principally involves the antrum with multiple distinctive inflammatory polyps rather than the newly illustrated giant gastric folds of this case. No reports of giant gastric folds in juvenile polyposis have appeared in the literature. The distinction between juvenile polyposis and Ménétrier's disease is essential due to their disparate clinical outcomes and management. The differential considerations for giant gastric folds and inflamed gastric foveolar hyperplasia are fully reviewed. On the basis of this report, the differential for giant gastric folds must now expand to include juvenile polyposis syndrome. Genetic testing for pathogenic germline mutations of the 2 known causative genes of this syndrome, namely SMAD4 and BMPR1A, are readily available and should become part of the evaluation of giant gastric folds, particularly in view of the neoplastic and hereditary aspects of juvenile polyposis syndrome.
RESUMO
Presentamos el caso de una mujer de 78 años, que presentaba importante pérdida de peso y su endoscopia digestiva alta demostró pliegues gástricos gigantes. Se realizaron biopsias con asa de polipectomía en busca del diagnóstico y posible enfermedad neoplásica. La histopatología documentó gastropatía hipertrófica. La ecoendoscopia gástrica demostró una pared muy gruesa y aunque se sospechó neoplasia no podía ser conclusiva, solamente después de realizada la gastrectomía total se diagnosticó linitis plástica. Presentamos la revisión de pliegues gástricos gigantes así como las causas y clasificación de la gastropatía hipertrófica.
We present 78 year old Colombian lady who had lost weight and had giant gastric folds in her upper endoscopy. Intensive work up was done including extra large biopsies done with polipectomy snares. The pathology diagnosed hypertrophic gastropathy. Endoscopic ultrasound of the stomach diagnosed a very thick gastric wall. Only after total gastrectomy was done, Linitis Plastica was diagnosed. We review giant gastric folds as well as causes and classification of the hypertrophic gastropathy.
