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
Language
- eng
Conference Location
- Germany