scholarly journals Unusual case of adult familial Menetrier disease in siblings

2019 ◽  
Vol 12 (10) ◽  
pp. e231175
Author(s):  
Emily Brownson ◽  
Adrian J Stanley ◽  
Prakash Konanahalli ◽  
John P Seenan

Menetrier disease is a rare disease characterised by hyperplasia of the gastric epithelium and large gastric folds. We present a case of a 58-year-old woman who was referred with iron deficiency anaemia, with a family history of a sibling who had undergone gastrectomy for presumed gastric malignancy. Endoscopy showed prominent gastric mucosal folds and biopsies showed hyperplastic gastric mucosa, with prominent foveolar hyperplasia suggestive of Menetrier disease. Further information about her brother’s diagnosis was sought, and it was found that his pathology after gastrectomy showed diffuse glandular hyperplasia also in keeping with Menetrier disease. Adult familial Menetrier disease has so far been a rarity in the literature—review elicits five previous cases of this presentation in siblings.

Gut ◽  
1966 ◽  
Vol 7 (3) ◽  
pp. 234-238 ◽  
Author(s):  
B. Cowan ◽  
S. Joseph ◽  
V. K. Satija

2012 ◽  
Vol 23 (3) ◽  
pp. 325-334 ◽  
Author(s):  
Annika Winbo ◽  
Olof Sandström ◽  
Richard Palmqvist ◽  
Annika Rydberg

AbstractAimWe investigated extra-cardiac clinical symptoms and signs in the rare Jervell and Lange-Nielsen Syndrome, characterised by impairedKCNQ1function, a gene essential for gastric acid secretion.MethodsAll Swedish Jervell and Lange-Nielsen cases with doubleKCNQ1mutations (14 cases) were investigated by medical record review, an interview, and were offered laboratory testing for iron-deficiency anaemia and gastrointestinal markers.ResultsA history of iron-deficiency anaemia in 12 of 14 patients and subjective gastrointestinal symptoms in 13 of 14 patients was revealed. Previous endoscopy in five cases had revealed no case of coeliac or inflammatory bowel disease but three cases of mucosal hyperplasia/dysplasia. Current signs of anaemia or iron substitution were present in 9 of 12 tested cases. Elevated levels of gastrin in seven of nine cases, pepsinogen in six of seven cases, and faecal calprotectin in nine of nine cases were present. A significant correlation between elevated gastrin levels and concurrent iron-deficiency and/or anaemia was revealed (p-value 0.039).ConclusionsA high frequency of extra-cardiac clinical symptoms and previous medical investigations was found. We propose that the Jervell and Lange-Nielsen Syndrome phenotypically includes gastrointestinal symptoms/signs and secondary iron-deficiency anaemia owing to hypochlorhydria on the basis ofKCNQ1mutations. The resultant elevated gastrin level is a potential risk factor for later gastrointestinal cancer. Clinical monitoring with regard to developing anaemia and hypergastrinaemia should be considered in the Jervell and Lange-Nielsen Syndrome.


Author(s):  
Shoiab M. Patto ◽  
Nazish M. Keena ◽  
Beenish M. Keena

Fungiform papillae are red/pink, mushroom shaped projections located on the tip and dorsolateral part of tongue. It harbours several taste buds. Pigmented fungiform papillae is a not so common benign condition which involves pigment deposition in fungiform papillae. Authors report a case of 35 years female who presented with history of blackish spots over tongue for past 10 years with no other associated symptom. Patient had conjunctival pallor (moderate) and rest of the examination was normal. Investigations showed iron deficiency anaemia with Hb. of 9.5 mg/dl. A clinical diagnosis of Pigmented Fungiform Papillae (PFP) with associated Iron Deficiency Anaemia (IDA) was made. Patient was explained in detail about the benign nature of disease and was put on oral iron therapy. Follow up after 2 months was advised.


2020 ◽  
Vol 13 (7) ◽  
pp. e235135
Author(s):  
Eliana Carolina Morel-Cerda ◽  
Bryan Adrian Priego-Parra ◽  
Peter Grube-Pagola ◽  
Jose Maria Remes-Troche

Pemphigus is a rare autoimmune disease that causes blistering of the skin and oral mucosa. In bullous pemphigoid (BP), skin involvement is predominant, whereas oesophageal involvement is rare, compared with other blistering diseases. We present, herein, the case of a 67-year-old man with a history of successfully treated BP that 2 years later developed progressive dysphagia, unintentional weight loss and iron deficiency anaemia. An endoscopy with biopsies was performed, and its findings were consistent with ‘sloughing esophagitis’ (esophagitis dissecans superficialis) associated with BP. Oesophageal involvement was present during the first weeks, making our case unusual due to the isolated oesophageal symptoms that developed 24 months later.


1970 ◽  
Vol 43 (4) ◽  
pp. 228-231 ◽  
Author(s):  
E. Ikkala ◽  
H.J. Salmi ◽  
M. Siurala

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