Hematopoietic cell transplantation for sialidosis type I

Ashish O Gupta; Marc C Patterson; Tim Wood; Julie B Eisengart; Paul J Orchard; Troy C Lund

doi:10.1016/j.ymgmr.2021.100832

Hematopoietic cell transplantation for sialidosis type I

Mol Genet Metab Rep. 2021 Dec 8:30:100832. doi: 10.1016/j.ymgmr.2021.100832. eCollection 2022 Mar.

Authors

Ashish O Gupta¹, Marc C Patterson², Tim Wood³, Julie B Eisengart⁴, Paul J Orchard¹, Troy C Lund¹

Affiliations

¹ Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN 55455, United States of America.
² Division of Child and Adolescent Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
³ Biochemical Genetics Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, United States of America.
⁴ Department of Pediatrics, Division of Clinical Behavioral Neuroscience, University of Minnesota, Minneapolis, MN, USA.

Abstract

We report the clinical and laboratory follow-up data of an adolescent female with Type I Sialidosis who underwent bone marrow transplant (BMT). After BMT, plasma and urine biomarkers responded concurrently with engraftment. Neuropsychiatry data showed preservation in some domains, but she did have overall decline in motor performance. Sialidosis is a very rare lysosomal condition, and we believe this to be the first report of a case of Type I Sialidosis undergoing BMT.

Keywords: Blood and marrow transplantation; Cherry-red spot myoclonus syndrome; Hematopoietic cell transplantation; Sialidosis, type I.