Faculty Collaboration Database

Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis. Acta Neuropathol 1994;87(5):531-6

Date

01/01/1994

Pubmed ID

8059607

DOI

10.1007/BF00294181

Scopus ID

2-s2.0-0028355298 (requires institutional sign-in at Scopus site)   65 Citations

Abstract

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.

Author List

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

Author

Annette D. Segura MD Adjunct Assistant Professor in the Pathology department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Biopsy
Cardiomyopathy, Dilated
Electromyography
Glycogen Storage Disease Type IV
Humans
Infant, Newborn
Male
Microscopy, Electron
Muscle Hypotonia
Muscles