We have located links that may give you full text access.
Case Reports
Journal Article
Infantile-onset Pompe disease: a diagnosis not to miss.
Pediatric Emergency Care 2010 April
Pompe disease is a rare genetic disorder that affects glycogen and lysosome storage secondary to a deficiency in the enzyme that breaks down glycogen (acid alpha-glucosidase). With such deficiency, glycogen buildup occurs within lysosomes and cells, causing dysfunction of several organ systems (typically skeletal and respiratory muscles). Within this disease, the spectrum of severity is attributed to the differing amounts of enzyme deficiency. The most severe and lethal of the spectrum is infantile-onset Pompe disease. In this population, there is less than 1% active enzyme activity with subsequent effect on the function of cardiac, respiratory, and skeletal muscle and hepatic and central nervous system activity. We report the case of a 5-month-old infant who presented with respiratory symptoms of bronchiolitis in the winter season. Physical examination, however, revealed findings suggestive of an underlying neuromuscular disorder and after thorough evaluation led to the diagnosis of infantile-onset Pompe disease. This case emphasizes the need to maintain clinical vigilance when treating common pediatric illnesses. The recognition of Pompe disease in this infant resulted in the initiation of contemporary treatment strategies delaying disease-related morbidity and mortality.
Full text links
Related Resources
Trending Papers
Challenges in Septic Shock: From New Hemodynamics to Blood Purification Therapies.Journal of Personalized Medicine 2024 Februrary 4
Molecular Targets of Novel Therapeutics for Diabetic Kidney Disease: A New Era of Nephroprotection.International Journal of Molecular Sciences 2024 April 4
Perioperative echocardiographic strain analysis: what anesthesiologists should know.Canadian Journal of Anaesthesia 2024 April 11
The 'Ten Commandments' for the 2023 European Society of Cardiology guidelines for the management of endocarditis.European Heart Journal 2024 April 18
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app