ISSN:
1432-1076
Keywords:
Congenital cardiomyophathy
;
Neuromyopathy
;
Lysosomal storage disorder
;
β-galactosidase deficiency
;
Echocardiography
;
Electromyography
;
Lymphocyte inclusions
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00442086
Permalink
