Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome.

摘要: Pompe disease, a disorder caused by deficiency in the lysosomal enzyme acid alpha glucosidase, is frequently overlooked as cause of floppy baby syndrome. The accurate diagnosis syndrome requires sequential evaluation medical causes (e.g., hypothyroidism, sepsis, malnutrition, malabsorption, congenital heart disease), neurologic etiologies (central [cerebral] and peripheral [lower motor unit]) anatomic characteristics abnormality. Cardiomegaly on chest x-ray patient with should alert pediatrician to suspect disease. Based this finding, further work-up or referral specialist can be considered. disease immediate attention. Symptomatic intervention initiated at earliest time possible maximize potential benefit from therapy prevent irreversible organ damage. Moreover, early important for providing parents realistic information about their child's prognosis, where appropriate, professional genetic counseling. Enzyme replacement (ERT) recombinant human GAA currently being evaluated clinical trials; future availability option makes identification condition even more critical. This article presents unified view optimal approach its recognition one treatable