Lysosomal storage disorders

Metabolic and
storage lung diseases: spectrum of imaging appearances. A child with Gaucher disease. HRCT images shows fine linear opacities and hilar lymph node enlargement (arrowheads). Courtesy of Alan Brody, M.D. (Cincinnati, OH)
insightsimaging.springeropen.com • Open Access
Metabolic and
storage lung diseases: spectrum of imaging appearances. A 46-year-old woman with Niemann-Pick disease. a HRCT image shows ground-glass opacity with septal thickening (arrowheads) in the upper lobes. Small pleural effusions are present. b HRCT image inferiorly at the level of heart again shows ground-glass opacity with septal thickening (arrowheads). Also seen are bilateral small pleural effusions and adjacent atelectasis (arrow)
insightsimaging.springeropen.com • Open Access
Metabolic and
storage lung diseases: spectrum of imaging appearances. A man with Niemann-Pick disease. a, b Contrast-enhanced CT images show extensive ground-glass opacity. Mild septal thickening (arrows) is also present
insightsimaging.springeropen.com • Open Access
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Lysosomal storage disorders (LSDs) form a large group of clinical entities, more than forty now described, with the common etiological theme being the presence of dysfunctional lysosomal proteins, with the secondary accumulation of toxic metabolites inside the cellular lysosomes.

Epidemiology

The prevalence of these individual disorders ranges from 1 in 57 000 for Gaucher disease to 1 in 4.2 million for sialidosis . As a group of disorders the prevalence is 1 per 7 700 live births .