This module describes two Australian cases, one adult and one young adult, both presenting with growth retardation, fatigue, neurological symptoms, bone pain, hepatosplenomegaly, and other nonspecific symptoms.

The purpose of this module is to raise awareness of the symptoms and natural history of the most common of the treatable lysosomal storage diseases, and to improve the index of suspicion to provide an earlier diagnosis and management of complications.

Published: March 8, 2021

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