Pompe Disease: Cyanosed Hypotonic Infant with Normal Respiratory Rate
نویسندگان
چکیده
منابع مشابه
Pompe Disease: Cyanosed Hypotonic Infant with Normal Respiratory Rate.
Infantile hypotonia or floppy infant is a diagnostic challenge when it presents with other presenting complaints such as fever, cough or diarrhea. Many times the hypotonia goes unnoticed when other symptom covers the hypotonia and child continues to receive the treatment for other symptoms. We report a rare case from Nepal of infantile Pompe disease who presented with the history of fever and c...
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Pompe or Glycogen Storage Disease type II (GSD-II) is a genetic disorder affecting both cardiac and skeletal muscle. Historically, patients with the infantile form usually die within the first year of life due to cardiac and respiratory failure. Recently a promising enzyme replacement therapy has resulted in improved clinical outcomes and a resurgence of elective anesthesia for these patients. ...
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Background and Aims: The role of BK and JC polyomaviruses (BKV and JCV) in the causation of respiratory disease and the natural route of transmission has not well been established. The aim of study was to determine the prevalence of BK and JC viruses in 280 respiratory samples and evaluate their contribution to respiratory disease. Materials and Methods: PCR was used to screen specimens for BK...
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ژورنال
عنوان ژورنال: Kathmandu University Medical Journal
سال: 2017
ISSN: 1812-2078,1812-2027
DOI: 10.3126/kumj.v13i2.16794