Fabry disease (FD) is an inherited lysosomal disorder caused by an X-linked α-galactosidase A deficiency. We report the case of a 50-year-old male FD patient on hemodialysis who presented with macroglossia-related speaking difficulty and gastrointestinal symptoms. An endoscopic analysis revealed multiple gastric ulcers, and a histological examination led to a diagnosis of amyloid light-chain am...

Peutz-Jeghers syndrome is an inherited disorder which usually debuts during childhood. It is characterized by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract. Numerous reports indicate a high incidence of gastrointestinal and extraintestinal cancer in these patients, their appearance at a young age, as well as its association with ovarian and testicular tumors....

Autosomal-dominant polycystic kidney disease (ADPKD) is the most commonly inherited kidney disease, and the fourth most common cause of end-stage renal disease. ADPKD is a systemic disorder, associated with numerous extrarenal manifestations, including polycystic liver disease, the most common gastrointestinal manifestation, and diverticular disease, inguinal, and ventral hernias, pancreatic cy...

Cronkhite-Canada syndrome (CCS) is a rare non-familial disorder with multiple gastrointestinal polyps and ectodermal changes. Adenomatous and carcinomatous changes have been reported. Video capsule endoscopy is a useful non-invasive tool to reveal polypoid lesions of the gastrointestinal tract suspicious for malignancy. We report a case of a patient with CCS with excessively elongated intestina...

Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder characterized by uncontrolled multisystem angiogenesis with epistaxis, gastrointestinal bleeding, iron-deficiency anemia, and arteriovenous malformations, and is often associated with increased levels of vascular endothelial growth factor (VEGF). Bevacizumab, a VEGF inhibitor, reduces epistaxis, telangiectasias, and iron-deficien...

Hereditary Haemorrhagic Telangiectasia also known as Osler-Rendu-Weber disease is a rare autosomal dominant disorder affecting small vessels of skin and mucosa, usually misdiagnosed because of its non specific symptomatology. This disease usually presents as epistaxis, gastrointestinal bleeding and visceral arteriovenous malformations. Although the epistaxis and gastrointestinal blood loss can ...

BACKGROUND Infantile myofibromatosis is a rare mesenchymal disorder of infancy that can extensively involve the viscera including the gastrointestinal tract. CASE PRESENTATION In this report, an exceptional case of infantile myofibromatosis is described in which rectal prolapse and sigmoid colo-colonic intussusception were the initial presentations of colorectal involvement in a 2-month-old p...

Bezoars of the gastrointestinal tract are a relatively rare disorder that affects the gastrointestinal system. The currently available treatment methods for a gastric phytobezoar include dissolution of the bezoar by Coca-Cola®, removal by endoscopic devices, laparotomy and laparoscopic surgery. We report here the case of a 52-year-old woman, suffering from upper epigastric pain due to gastric b...

The present work analyzes the most frequent cause of consultation in Gastroenterology services worldwide, Irritable bowel syndrome (IBS) is a chronic gastrointestinal disorder characterized by recurrent symptoms that include abdominal pain and abnormal habits either form diarrhea, constipation, or both; absence an apparent organic cause, with global prevalence estimated at 11.2% predominance wo...

Objective: To determine the association between presence of genetic disease in offspring and paternal age. Methods: We carried out a systematic review in: Medline (Ovid), EMBASE, The Cochrane Central Register Controlled Trials (CENTRAL), from inception to October 2022. included RCTs, Cohort, case-control cross-sectional studies. Every study was evaluated according eligibility criteria. Meta-ana...