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

Publication ,  Journal Article
Howell, RR; Byrne, B; Darras, BT; Kishnani, P; Nicolino, M; van der Ploeg, A
Published in: Genet Med
May 2006

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

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Published In

Genet Med

DOI

ISSN

1098-3600

Publication Date

May 2006

Volume

8

Issue

5

Start / End Page

289 / 296

Location

United States

Related Subject Headings

  • Muscle Hypotonia
  • Infant, Newborn
  • Infant
  • Humans
  • Glycogen Storage Disease Type II
  • Genetics & Heredity
  • Early Diagnosis
  • Diagnosis, Differential
  • 3105 Genetics
  • 1103 Clinical Sciences
 

Citation

APA
Chicago
ICMJE
MLA
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Howell, R. R., Byrne, B., Darras, B. T., Kishnani, P., Nicolino, M., & van der Ploeg, A. (2006). Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome. Genet Med, 8(5), 289–296. https://doi.org/10.1097/01.gim.0000204462.42910.b8
Howell, R Rodney, Barry Byrne, Basil T. Darras, Priya Kishnani, Marc Nicolino, and Ans van der Ploeg. “Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome.Genet Med 8, no. 5 (May 2006): 289–96. https://doi.org/10.1097/01.gim.0000204462.42910.b8.
Howell RR, Byrne B, Darras BT, Kishnani P, Nicolino M, van der Ploeg A. Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome. Genet Med. 2006 May;8(5):289–96.
Howell, R. Rodney, et al. “Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome.Genet Med, vol. 8, no. 5, May 2006, pp. 289–96. Pubmed, doi:10.1097/01.gim.0000204462.42910.b8.
Howell RR, Byrne B, Darras BT, Kishnani P, Nicolino M, van der Ploeg A. Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome. Genet Med. 2006 May;8(5):289–296.

Published In

Genet Med

DOI

ISSN

1098-3600

Publication Date

May 2006

Volume

8

Issue

5

Start / End Page

289 / 296

Location

United States

Related Subject Headings

  • Muscle Hypotonia
  • Infant, Newborn
  • Infant
  • Humans
  • Glycogen Storage Disease Type II
  • Genetics & Heredity
  • Early Diagnosis
  • Diagnosis, Differential
  • 3105 Genetics
  • 1103 Clinical Sciences