A boy with generalised infantile polyposis syndrome is reported to highlight the difficulties in management. Despite attempts to reduce polyp mass by regular endoscopic polypectomy, daily transfusions of blood products, and a trial of the non-steroidal anti-inflammatory agent sulindac, his condition gradually deteriorated and he died of septicaemia.
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http://dx.doi.org/10.1136/adc.73.3.253 | DOI Listing |
BMC Pediatr
August 2024
Department of Gastroenterology, Hepatology and Nutrition, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, 355 Luding Road, Shanghai, 200062, China.
Background: Infantile Juvenile polyposis of infantile (JPI) is a rare and aggressive form of juvenile polyposis syndrome (JPS) typically diagnosed in the first year of life. It often carries a poor prognosis due to chronic gastrointestinal bleeding, protein-losing enteropathy, malnutrition and immune deficiency.
Case Presentation: We report a case of a girl initially presented with pallor at 7 months of age, which progressed to gastrointestinal bleeding and protein-losing enteropathy.
J Neurosci
February 2023
Department of Neuroscience, Tufts University School of Medicine, Boston, Massachusetts 02111
Infantile and epileptic spasms syndrome (IESS) is a childhood epilepsy syndrome characterized by infantile or late-onset spasms, abnormal neonatal EEG, and epilepsy. Few treatments exist for IESS, clinical outcomes are poor, and the molecular and circuit-level etiologies of IESS are not well understood. Multiple human IESS risk genes are linked to Wnt/β-catenin signaling, a pathway that controls developmental transcriptional programs and promotes glutamatergic excitation via β-catenin's role as a synaptic scaffold.
View Article and Find Full Text PDFGastroenterology Res
February 2022
Division of Pediatric Gastroenterology, University of Iowa Stead Family Children's Hospital, Iowa City, IA 52242, USA.
Mol Cell Pediatr
June 2021
Division of Pediatric Hematology, Oncology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Pauwelstrasse 30, 52074, Aachen, Germany.
Background: Infantile myofibromatosis (IM) is the most common cause of multiple fibrous tumors in infancy. Multicentric disease can be associated with life-threatening visceral lesions. Germline gain-of-function mutations in PDGFRB have been identified as the most common molecular defect in familial IM.
View Article and Find Full Text PDFClin Exp Allergy
August 2021
Department of Respiratory Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Severe asthma is a heterogeneous disease with different phenotypes based on clinical, functional or inflammatory parameters. In particular, the eosinophilic phenotype is associated with type 2 inflammation and increased levels of interleukin (IL)-4, IL-5 and IL-13). Monoclonal antibodies that target the eosinophilic inflammatory pathways (IL-5R and IL-5), namely mepolizumab, reslizumab, and benralizumab, are effective and safe for severe eosinophilic asthma.
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