Abstract
Bone marrow aspiration is the preliminary investigation in Niemann Pick disease type A when enzyme assays and mutation studies are unavailable. We report an infant with typical phenotype and enzyme deficiency, but undetectable Niemann Pick cells in the bone marrow. A new mutation R542X in SMPD gene was also detected.
MeSH terms
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Bone Marrow Cells / pathology*
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DNA Mutational Analysis
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Humans
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Infant
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Male
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Mutation
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Niemann-Pick Disease, Type A / diagnosis*
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Niemann-Pick Disease, Type A / genetics
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Niemann-Pick Disease, Type A / pathology
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Sphingomyelin Phosphodiesterase / genetics
Substances
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SMPD1 protein, human
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Sphingomyelin Phosphodiesterase