Abstract
A boy had infantile-onset systemic inflammation, growth failure, hepatosplenomegaly, anemia, leukocytopenia, progressive muscular dystrophy, and hypercalprotectinemia, resulting in marked hyperzincemia. His mother had a history of chronic arthritis since childhood and also showed hypercalprotectinemia/hyperzincemia. We postulate an inherent defect in calprotectin metabolism.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Age of Onset
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Arthritis, Juvenile / complications
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Arthritis, Juvenile / genetics*
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Calcium-Binding Proteins / metabolism*
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Creatine Kinase / blood
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Female
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Hepatomegaly
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Humans
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Leukocyte L1 Antigen Complex
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Leukopenia / complications
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Male
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Membrane Glycoproteins / metabolism*
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Metabolism, Inborn Errors / complications
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Metabolism, Inborn Errors / genetics*
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Muscular Dystrophies / complications
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Neural Cell Adhesion Molecules / metabolism*
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Splenomegaly
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Zinc / blood*
Substances
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Calcium-Binding Proteins
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Leukocyte L1 Antigen Complex
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Membrane Glycoproteins
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Neural Cell Adhesion Molecules
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Creatine Kinase
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Zinc