Development of infantile hypertrophic pyloric stenosis during postoperative period in EA with TEF is rare. Postoperative vomiting or feeding intolerance in EA is more common which is due to esophageal stricture, gastroesophageal reflux and esophageal dysmotility. A typical case of IHPS also presents with non-bilious projectile vomiting at around 3-4 weeks of life. The diagnosis of infantile hypertrophic pyloric stenosis in this subset is usually delayed because of its rarity. We report a case of IHPS in postoperative EA and emphasize on high index of suspicion to avoid any delay in diagnosis with its metabolic consequences.
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Cureus
January 2025
Department of Pediatrics, Salmaniya Medical Complex, Manama, BHR.
Galactosialidosis (GS, OMIM #256540) is a rare metabolic disorder resulting from mutations in the protective protein/cathepsin A (PPCA) or CTSA gene, which is characterized by malfunction of the lysosomal glycoprotein degradation and subsequent intra-lysosomal accumulation of sialyloligosaccharides and glycopeptides. It follows an autosomal recessive inheritance pattern. This systemic disease is characterized by typical clinical features such as short stature, coarse facial features, vertebral deformities, gastrointestinal manifestations, particularly hepatosplenomegaly, cardiac abnormalities, hearing loss, and macular cherry-red spots.
View Article and Find Full Text PDFMol Genet Metab Rep
March 2025
Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
Background: The current standard of care for infantile-onset Pompe disease (IOPD), a severe form of acid α-glucosidase enzyme activity deficiency is: (1) detection by newborn screening, (2) early initiation of intravenous enzyme replacement therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), with higher doses of rhGAA increasingly used to improve clinical outcomes, and (3) immune tolerization induction (ITI) using to prevent anti-rhGAA antibody formation, with methotrexate (MTX), rituximab, and IVIG used for patients who are cross-reactive immunologic material negative (CRIM-) and monotherapy with MTX used in patients who are cross-reactive immunologic material positive (CRIM+).
Objectives/methods: A pilot study evaluates a dose-intensive therapy (DIT) using high-dose ERT (40 mg/kg/week) and more frequent exposure to ERT (i.e.
Int J Surg Case Rep
February 2025
Department of Public Health and Infectious Diseases, Faculty of Medicine, Herat University, Herat, Afghanistan; Department of Epidemiology and Biostatistics, Schulich School of Medicine & Dentistry, Western University, London, ON, Canada.
Introduction: This case report presents a rare occurrence of Type III Congenital Paraesophageal Hiatal Hernia (CPEHH) with Infantile Hypertrophic Pyloric Stenosis (IHPS) in a 28-day-old neonate. However, this unusual combination poses significant diagnostic and surgical challenges.
Presentation Of Case: A 28-day-old male presented with respiratory distress and persistent vomiting.
Pediatr Int
December 2024
Medical Faculty, Department of Pediatric Metabolism and Nutrition, Ege University, Izmir, Türkiye.
Background: Niemann-Pick type C (NPC) disease is a lysosomal storage disease with visceral organ involvement and neurological and psychiatric symptoms. This study presents the clinical and laboratory findings of NPC cases involving three novel variants.
Methods: The clinical and laboratory findings were reviewed retrospectively between February 2006 and December 2022.
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