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Case Reports
. 1994;87(5):531-6.
doi: 10.1007/BF00294181.

Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis

T T Tang  1 , A D Segura, Y T Chen, L M Ricci, R A Franciosi, M L Splaingard, M S Lubinsky
Affiliations
Case Reports

Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis

T T Tang et al. Acta Neuropathol. 1994.

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.

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References

    1. J Pediatr. 1972 May;80(5):842-4 - PubMed
    1. Proc Natl Acad Sci U S A. 1966 Aug;56(2):725-9 - PubMed
    1. Am J Hum Genet. 1990 Oct;47(4):735-9 - PubMed
    1. Arch Pathol Lab Med. 1979 Mar;103(3):105-11 - PubMed
    1. Lab Invest. 1956 Jan-Feb;5(1):11-20 - PubMed

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