Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Tang, TT; Segura, AD; Chen, YT; Ricci, LM; Franciosi, RA; Splaingard, ML; Lubinsky, MS

Published Date

  • 1994

Published In

Volume / Issue

  • 87 / 5

Start / End Page

  • 531 - 536

PubMed ID

  • 8059607

International Standard Serial Number (ISSN)

  • 0001-6322

Digital Object Identifier (DOI)

  • 10.1007/BF00294181


  • eng

Conference Location

  • Germany