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Timeline of presenting signs and symptoms of Gaucher disease throughout childhood

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(a) Dysphagia, apnea, difficulty with secretions. (b) Progressive. (c) Avascular necrosis, osteopenia, pathologic fractures. Presenting signs and symptoms of Gaucher disease are summarized Gary and colleagues; some would only be expected for specific Gaucher disease subtypes (eg, overt neurologic symptoms only expected in GD2 and/or GD3) (Gary SE, Ryan E, Steward AM, Sidransky E. Recent advances in the diagnosis and management of Gaucher disease. Expert Rev Endocrinol Metab 2018;13[2]:107-18.).

Abbreviations: GD, Gaucher disease; LAL, lysosomal acid lipase; LSD, lysosomal storage disease.

(Source: Weinreb NJ, Goker-Alpan O, Kishnani PS, et al. The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here? Mol Genet Metab 2022;136[1]:4-21. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)