ABSTRACT
Heterotopic gastric mucosa (HGM) is defined as the presence of gastric mucosa outside of the stomach, which is documented by histologic finding. HGM is typically a solitary lesion; however, in our Case Report, the patient presented with multilocus HGM, an uncommon form in which the small bowel is extensively involved. We report a unique case of multilocus HGM mimicking very early-onset inflammatory bowel disease with recurrent gastrointestinal bleeding, chronic inflammation, and stricturing in a newborn patient. Histologic findings from the ileocecal specimen revealed multiple ulcers surrounded by chronic inflammation. Subsequently, a Technetium-99m pertechnetate scan demonstrated an increased tracer uptake in the remaining ileum. This radiologic finding, in combination with the discovery of gastric mucosa within the remainder of resected ileal specimen, led to the diagnosis of HGM. Omeprazole was initiated, and the patient is now asymptomatic without further gastrointestinal bleeding. Increased awareness of this rare disease and performing a Technetium-99m pertechnetate early can correctly diagnose HGM and prevent disease complication.
Subject(s)
Choristoma/pathology , Gastric Mucosa , Ileal Diseases/pathology , Infant, Premature , Inflammatory Bowel Diseases/diagnosis , Biopsy, Needle , Diagnosis, Differential , Gestational Age , Humans , Ileal Diseases/diagnosis , Immunohistochemistry , Infant, Newborn , Inflammatory Bowel Diseases/congenital , Inflammatory Bowel Diseases/drug therapy , Male , Omeprazole/therapeutic use , Treatment OutcomeABSTRACT
Childhood enteropathies are a group of diseases causing severe chronic (>2-3 weeks) diarrhoea often starting in the first week of life with the potential for fatal complications for the affected infant. Early identification and accurate classification of childhood enteropathies are, therefore, crucial for making treatment decisions to prevent life-threatening complications. Childhood enteropathies are classified into four groups based on the underlying pathology: (i) conditions related to defective digestion, absorption and transport of nutrients and electrolytes; (ii) disorders related to enterocyte differentiation and polarization; (iii) defects of enteroendocrine cell differentiation; and (iv) disorders associated with defective modulation of intestinal immune response. While the intestinal mucosa is usually normal in enteropathies related to congenital transport or enzyme deficiencies, the intestinal biopsy in other disorders may reveal a wide range of abnormalities varying from normal villous architecture to villous atrophy and/or inflammation, or features specific to the underlying disorder including epithelial abnormalities, lipid vacuolization in the enterocytes, absence of plasma cells, lymphangiectasia, microorganisms, and mucosal eosinophilic or histiocytic infiltration. This review intends to provide an update on small intestinal biopsy findings in childhood enteropathies, the "newcomers", including very early onset monogenic inflammatory bowel disease (IBD), in particular, for the practicing pathologist.
Subject(s)
Inflammatory Bowel Diseases/congenital , Inflammatory Bowel Diseases/pathology , Age of Onset , Child , Humans , Infant, Newborn , Intestinal Diseases/congenital , Intestinal Diseases/pathologyABSTRACT
Transforming growth factor beta is a pleiotropic cytokine which plays a central role in the homeostasis of the immune system. A complex dysregulation of its signaling occurs in Loeys-Dietz syndrome, a monogenic disorder caused by mutations of transforming growth factor beta receptors type 1 or type 2, characterized by skeletal involvement, craniofacial abnormalities, and arterial tortuosity with a strong predisposition for aneurysm and dissection. In addition, several immunologic abnormalities have been described in these patients, including an increased risk of allergic disorders as well as eosinophilic gastrointestinal disorders. The occurrence of inflammatory bowel disorders has been also reported, but it is poorly documented. We describe two unrelated children with Loeys-Dietz syndrome affected by severe chronic inflammatory colitis appearing at an early age. The intestinal disease presented similar features in both patients, including a histopathological picture of non-eosinophilic chronic ulcerative colitis, striking elevation of inflammatory markers, and a distinctly severe clinical course leading to failure to thrive, with resistance to multiple immunosuppressive treatments. One of the patients also presented autoimmune thyroiditis. Our report confirms that chronic ulcerative colitis may be associated with Loeys-Dietz syndrome. This finding suggests that an alteration of transforming growth factor beta signaling may by itself predispose to inflammatory colitis in humans, and represent an invaluable model to understand inflammatory bowel diseases.
Subject(s)
Inflammatory Bowel Diseases/physiopathology , Signal Transduction/physiology , Transforming Growth Factor beta/physiology , Child, Preschool , Colon/pathology , Colonoscopy , Female , Humans , Infant , Inflammatory Bowel Diseases/congenital , Inflammatory Bowel Diseases/pathology , Loeys-Dietz Syndrome/pathology , Loeys-Dietz Syndrome/physiopathology , MaleABSTRACT
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