Gastroenterologia Pediátrica
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Browsing Gastroenterologia Pediátrica by Author "Afonso, I"
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- Chondroepithelial Choristoma: A Rare Cause of Congenital Esophageal StenosisPublication . Marques dos Santos, F; Afonso, I; Soares, E; Carneiro, R
- Is Saccharomyces Boulardii Really Safe?Publication . Alves, C; Afonso, I; Leiria-Pinto, P
- Missense Mutation of TTC7A Mimicking Tricho-Hepato-Enteric (SD/THE) Syndrome in a Patient with Very-Early Onset Inflammatory Bowel DiseasePublication . Farela Neves, J; Afonso, I; Borrego, L; Martins, C; Cordeiro, AI; Neves, C; Lacoste, C; Badens, C; Fabre, ATricho-hepato-enteric syndrome (SD/THE) and Multiple intestinal atresia with combined immune deficiency (MIA-CID) are autosomal recessive disorders that present immunological and gastrointestinal features. There are two different phenotypes of patients with TTC7A mutations: the severe form, caused by null mutations and leading to the classical MIA-CID; and the mild form, caused by missense mutations and leading to predominant features of VEO-IBD, less severe immunological involvement and hair abnormalities. We expand the knowledge about TTC7A deficiency, describing a patient with the mild phenotype of TTC7A deficiency but presenting overlapping features of SD/THE and MIA-CID: intestinal atresia and inflammatory bowel disease evocative of MIA-CID, but also dental abnormalities, huge forehead, liver abnormalities, autoimmune thyroiditis and hypogammaglobulinemia, evocative of SD/THE.
- Perivascular Epithelioid Cell Tumor: A Case Report of a Rare EntityPublication . Cardosa, MF; Ferreira de Lima, S; Knoblich, M; Afonso, I; Mendes, CPerivascular epithelioid cell tumor is a rare mesenchymal tumor with myomelanocytic differentiation. It mainly occurs in middle-aged females and can be found at any location. The differential diagnosis is broad but the immunohistochemical biomarkers establish the diagnosis. A 4-year-old girl was referred to a pediatric gastroenterology clinic due to recurrent umbilical pain and the workup revealed biliary lithiasis. She remained in follow-up, asymptomatic, no physical findings, and stable ultrasound. Six years later, a supra-umbilical mass was detected by ultrasound, and the magnetic resonance imaging revealed a highly vascularized intraperitoneal tumor with well-defined limits. Surgical mass resection was performed, and the histology revealed morphological and immunohistochemical aspects of a perivascular epithelioid cell tumor of the abdominal wall. Given the size of the lesion (> 5 cm) and admitting uncertain malignant potential, she was submitted to margin enlargement. Four years later, she remains asymptomatic without clinical or imagiological evidence of relapse.
- Pneumonectomy in a Child with Necrotic Lung after Ingestion of a Button BatteryPublication . Stilwell, R; Silva, C; Alves, R; Afonso, I; Calvinho, P; Malta, AC