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European Journal of Pediatrics

, Volume 139, Issue 1, pp 75–81 | Cite as

Infantile cardiomyopathy and neuromyopathy with β-galactosidase deficiency

  • A. Kohlschütter
  • K. Sieg
  • F. J. Schulte
  • H. W. Hayek
  • H. H. Goebel
Case Reports

Abstract

We observed an infant with congenital cardiomyopathy, muscular weakness and hypotonia, who developed hepatosplenomegaly and died from heart failure at the age of 8 months. His condition (including electromyographic findings) resembled infantile Pompe disease but was different by echocardiography, morphology of lymphocyte inclusions, and enzymatic studies demonstrating an almost total deficiency of β-galactosidase activity towards methylumbelliferyl substrate in leucocytes, plasma and fibroblasts. His parents had about half the normal activities in leucocytes and plasma. Whilst β-galactosidase deficiency in an infantile storage disorder is characteristic of generalized (type 1) GM1-gangliosidosis, this patient differed by the striking involvement of the cardiac and skeletal muscles and the lack of facial and osseous changes. This case and a similar one reported underlines the necessity to consider storage disorders apart from glycogenosis in congenital cardiomyopathy.

Key words

Congenital cardiomyophathy Neuromyopathy Lysosomal storage disorder β-galactosidase deficiency Echocardiography Electromyography Lymphocyte inclusions 

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Copyright information

© Springer-Verlag 1982

Authors and Affiliations

  • A. Kohlschütter
    • 1
  • K. Sieg
    • 2
  • F. J. Schulte
    • 1
  • H. W. Hayek
    • 3
  • H. H. Goebel
    • 4
  1. 1.Department of PediatricsUniversity of HamburgHamburg 20Germany
  2. 2.Division of Pediatric CardiologyUniversity of HamburgHamburg 20Germany
  3. 3.Wilhelmstift Children's HospitalHamburgGermany
  4. 4.Department of NeuropathologyUniversity of GöttingenGöttingenFederal Republik of Germany

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