This case study describes a male patient with a myriad of health challenges beginning in the first decade of life. His broad spectrum of symptoms included cutaneous, gastrointestinal, renal, peripheral nervous, cardiovascular, ocular and auditory complaints, and general malaise. A definitive diagnosis was delayed until the third decade of life.

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

Published: March 8, 2021

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