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1.
Diagn Pathol ; 14(1): 77, 2019 Jul 13.
Article in English | MEDLINE | ID: mdl-31301733

ABSTRACT

BACKGROUND: Neurofibromatosis type-1 (NF1), also called von Recklinghausen disease, is a rare genetic disease which can lead to the development of benign or even malignant tumors. NF1 is mostly diagnosed in children or early adolescents who present with clinical symptoms. A curative therapy is still missing and the management of NF1 is based on careful surveillance. Concerning tumors which affect the gastrointestinal tract in patients with NF1, the most common is a gastrointestinal stromal tumor (GIST). CASE PRESENTATION: We present a case of a 58-year-old adult patient with dyspeptic symptoms who was incidentally diagnosed with triple malignancy (pheochromocytoma, multiple GISTs of small intestine and an ampullary NET) as a first manifestation of NF1. The patient underwent surgical treatment (adrenalectomy and pancreaticoduodenectomy) with no complications and after 2 years remains in oncological remission. CONCLUSION: NF1 is a rare genetic disease which can cause various benign or malignant tumors. The coincidence of GIST and NET is almost pathognomonic for NF1 and should raise a suspicion of this rare disorder in clinical practice.


Subject(s)
Gastrointestinal Stromal Tumors/diagnostic imaging , Neuroendocrine Tumors/diet therapy , Neurofibromatosis 1/diagnostic imaging , Pheochromocytoma/diagnostic imaging , Gastrointestinal Stromal Tumors/complications , Gastrointestinal Stromal Tumors/genetics , Gastrointestinal Stromal Tumors/pathology , Humans , Male , Middle Aged , Neuroendocrine Tumors/complications , Neuroendocrine Tumors/genetics , Neuroendocrine Tumors/pathology , Neurofibromatosis 1/complications , Neurofibromatosis 1/genetics , Neurofibromatosis 1/pathology , Pheochromocytoma/complications , Pheochromocytoma/genetics , Pheochromocytoma/pathology
2.
Vnitr Lek ; 63(5): 339-342, 2017.
Article in English | MEDLINE | ID: mdl-28726433

ABSTRACT

Gastric antral vascular ectasia (GAVE) and solitary rectal ulcer syndrome (SRUS) are both mentioned in the literature as rare causes of iron deficiency anemia and gastrointestinal (GI) bleeding. GAVE accounts for up to 4 % of upper non-variceal GI bleeding; SRUS is a rare benign disorder that presents with rectal bleeding. We present the case of a 75-year-old patient who was admitted to our facility with anemia. In the same patient, we encountered chronic bleeding from GAVE and SRUS. Both diagnoses were treated endoscopically: GAVE by argon plasma coagulation and a subsequent treatment with proton pump inhibitors and SRUS by adrenaline injection and clipping, consecutively treated with mesalazine enemas. The patient was successfully cured, resulting in a stable level of hemoglobin and no recurrent GI bleeding. We report a unique case of chronic GI bleeding caused by two uncommon diagnoses. The co-occurrence of GAVE and SRUS has not been previously described or published.Key words: anemia - endoscopy - gastric antral vascular ectasia (GAVE) - gastrointestinal bleeding - solitary rectal ulcer syndrome (SRUS).


Subject(s)
Anemia/etiology , Gastric Antral Vascular Ectasia/complications , Ulcer/complications , Aged , Anemia, Iron-Deficiency/etiology , Gastric Antral Vascular Ectasia/diagnosis , Gastrointestinal Hemorrhage/etiology , Humans , Male , Proton Pump Inhibitors/therapeutic use , Ulcer/diagnosis
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