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Celiac crisis (CC) is a rare complication of celiac disease (CD), usually observed in younger children with unrecognized CD or poor compliance with a gluten-free diet (GFD). We present a case of celiac crisis in a 3-year-old girl who was recently diagnosed with celiac disease. She was referred to our clinic with anasarca, tetany, and severe malnutrition, with hypokalemia, hypocalcemia, hypomagnesemia, and hypoalbuminemia.
View Article and Find Full Text PDFImmunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.
Am J Med Genet A
August 2024
Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
Casitas B-lineage lymphoma (CBL) encodes an adaptor protein with E3-ligase activity negatively controlling intracellular signaling downstream of receptor tyrosine kinases. Somatic CBL mutations play a driver role in a variety of cancers, particularly myeloid malignancies, whereas germline defects in the same gene underlie a RASopathy having clinical overlap with Noonan syndrome (NS) and predisposing to juvenile myelomonocytic leukemia and vasculitis. Other features of the disorder include cardiac defects, postnatal growth delay, cryptorchidism, facial dysmorphisms, and predisposition to develop autoimmune disorders.
View Article and Find Full Text PDFIncidental hypertransaminasemia in children-a stepwise approach in primary care.
Eur J Pediatr
April 2023
Pediatrics Division, Gastroenterology Unit, Centro Hospitalar Universitário do Porto, Centro Materno Infantil do Norte, Largo da Maternidade No 45. 4050-651, Porto, Portugal.
Children with elevated liver enzymes are occasionally discovered through laboratory work-up from different clinical scenarios. Although the majority will have transient and/or benign conditions, a subgroup will have underlying liver disorders. The differential diagnosis is broad and therefore, a systematic approach is of utmost importance.
View Article and Find Full Text PDFMystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel Missense Variants Leading to Severe Syndromic Forms of Moyamoya Angiopathy and Literature Review.
Int J Mol Sci
August 2022
Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Via Luigi De Crecchio 7, 80138 Naples, Italy.
Moyamoya angiopathy (MMA) is a rare cerebral vasculopathy in some cases occurring in children. Incidence is higher in East Asia, where the heterozygous p.Arg4810Lys variant in (Mysterin) represents the major susceptibility factor.
View Article and Find Full Text PDFExclusive Enteral Nutrition Remission Induction Treatment Influence on Transient Hypertransaminasemia in Children with Newly Onset Crohn's Disease.
J Med Food
April 2022
Department of Pediatrics, Gastroenterology and Nutrition, Faculty of Medicine, Jagiellonian University Medical College, Krakow, Poland.
Pediatric Crohn's disease (CD) is commonly associated with hepatobiliary complications, including transient liver enzymes elevation (LEE). Exclusive enteral nutrition (EEN) is recommended as primary treatment in mild-to-moderate pediatric CD. Data concerning EEN and liver enzymes (LE) abnormalities are limited.
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