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CC BY 4.0 · Ibnosina Journal of Medicine and Biomedical Sciences
DOI: 10.1055/s-0044-1801759
Pathology Corner

Cytoplasmic Vacuoles in Lymphocytes of a Child with Sialic Acid Storage Disorder

Saba Shafi
1   Department of Pathology, The Ohio State University College of Medicine, Columbus, Ohio, United States
,
Samir B. Kahwash 
1   Department of Pathology, The Ohio State University College of Medicine, Columbus, Ohio, United States
2   Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio, United States
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Abstract

This is an image-based clinical vignette demonstrating unusual cytoplasmic vacuoles in the lymphocytes in a stained peripheral blood smear from a 6-month-old infant who presented with seizures, hypotonia, and hepatosplenomegaly and was found to have the extremely rare lysosomal disorder, namely, sialic acid storage disease. Although not specific, it is important to recognize this morphologic finding for reflex biochemical and genetic testing.

Keywords

hypomyelination - infantile sialic acid storage disorder - lysosomal membrane transporter - N-acetylneuraminic acid - sialic acid

Authors' Contributions

S.B.K. made the diagnosis, wrote the first draft, and prepared the composite photograph. S.S. performed the literature search and edited the manuscript.


Compliance with Ethical Principles

No ethical concerns.




Publication History

Article published online:
30 January 2025

© 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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