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Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis.

Publication ,  Journal Article
Tang, TT; Segura, AD; Chen, YT; Ricci, LM; Franciosi, RA; Splaingard, ML; Lubinsky, MS
Published in: Acta Neuropathol
1994

A neonate with deficiency of branching enzyme (glycogenosis type IV) presented symptoms of severe hypotonia pre- and postnatally, and dilated cardiomyopathy in early infancy. The classical clinical manifestation of liver cirrhosis was not present, although amylopectin-like inclusions were found in the hepatocytes. In contrast to a previous report, the neurons in the brain stem and spinal anterior horns contained PAS-positive, diastase-resistant deposits. The combined involvement of the muscles and motor neurones could account for the severity of hypotonia. The muscle biopsy, electromyogram and biochemical and enzyme assays were helpful in establishing the diagnosis.

Duke Scholars

Published In

Acta Neuropathol

DOI

ISSN

0001-6322

Publication Date

1994

Volume

87

Issue

5

Start / End Page

531 / 536

Location

Germany

Related Subject Headings

  • Neurology & Neurosurgery
  • Muscles
  • Muscle Hypotonia
  • Microscopy, Electron
  • Male
  • Infant, Newborn
  • Humans
  • Glycogen Storage Disease Type IV
  • Electromyography
  • Cardiomyopathy, Dilated
 

Citation

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Tang, T. T., Segura, A. D., Chen, Y. T., Ricci, L. M., Franciosi, R. A., Splaingard, M. L., & Lubinsky, M. S. (1994). Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. Acta Neuropathol, 87(5), 531–536. https://doi.org/10.1007/BF00294181
Tang, T. T., A. D. Segura, Y. T. Chen, L. M. Ricci, R. A. Franciosi, M. L. Splaingard, and M. S. Lubinsky. “Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis.Acta Neuropathol 87, no. 5 (1994): 531–36. https://doi.org/10.1007/BF00294181.
Tang TT, Segura AD, Chen YT, Ricci LM, Franciosi RA, Splaingard ML, et al. Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. Acta Neuropathol. 1994;87(5):531–6.
Tang, T. T., et al. “Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis.Acta Neuropathol, vol. 87, no. 5, 1994, pp. 531–36. Pubmed, doi:10.1007/BF00294181.
Tang TT, Segura AD, Chen YT, Ricci LM, Franciosi RA, Splaingard ML, Lubinsky MS. Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. Acta Neuropathol. 1994;87(5):531–536.
Journal cover image

Published In

Acta Neuropathol

DOI

ISSN

0001-6322

Publication Date

1994

Volume

87

Issue

5

Start / End Page

531 / 536

Location

Germany

Related Subject Headings

  • Neurology & Neurosurgery
  • Muscles
  • Muscle Hypotonia
  • Microscopy, Electron
  • Male
  • Infant, Newborn
  • Humans
  • Glycogen Storage Disease Type IV
  • Electromyography
  • Cardiomyopathy, Dilated