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.
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Mukherjee, S.B., Pandey, M., Kapoor, S. et al. Infant with Type A Niemann Pick Disease and Undetectable Niemann Pick Cells in Bone Marrow. Indian Pediatr 49, 490–492 (2012). https://doi.org/10.1007/s13312-012-0095-4
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DOI: https://doi.org/10.1007/s13312-012-0095-4