title: Infantile hypotonia with failure to thrive.
abstract: BACKGROUND
  Pompe disease is a lysosomal glycogen storage disease (GSDII) characterized by deficiency of acid glucosidase, resulting in lysosomal glycogen accumulation in multiple tissues, with cardiac and skeletal muscles being the most seriously affected. It manifests itself as a spectrum in multiple age groups including infancy, childhood and adulthood.
  
  
  METHODS
  We present a case of infantile Pompe disease that was detected at a four month well visit in the presence of hypotonia and failure to thrive.
  
  
  CONCLUSIONS
  Pompe disease can be diagnosed clinically by plotting growth parameters and performing developmental screening accurately. Enzyme replacement is the only available medical treatment for Pompe disease. High index of suspicion is necessary in diagnosing Pompe disease.
authors.affiliation: Department of Pediatrics, St. John Children's Hospital, Detroit, MI, U.S.A.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Nagiub
authors.forename: Karen
authors.initials: K
authors.lastname: Alton
authors.forename: Premchand
authors.initials: P
authors.lastname: Anne
keywords: cardiomegaly; developmental delay; failure to thrive; hypotonia