Systemic storage diseases
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28.1.09
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Mucopolypolysaccharidoses
Most common are Hurler’s and Hunter’s
Most are X-linked and lead to storage of abnormally metabolized mucopolysaccharides in the brain and visceral organs
Patients display coarse facial features, corneal opacity, and cardiac dysfunction
Gaucher’s (AKA sphingolipidosis)
Accumulation of glucocerebrosides
Spleen and other tissues have cerebroside-distended macrophages that have a wrinkled paper appearance and are called Gaucher cells
Category: Pathology Notes
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