Alder's syndrome; Alder-Reilly anomaly

Epidemiology

• rare

Pathology

• mucopolysaccharide defect
• accumulation of partially degraded mucopolysaccharides in lysosomes
• large basophilic inclusions in all types of mature leukocytes, & sometimes in precursors
• inclusions may be seen in the bone marrow more frequently than in peripheral blood
• leukocytes appear to function normally

Genetics

• autosomal recessive

Clinical manifestations

• gargoylism & dwarfism

More general terms

• genetic disease of the blood/bone marrow
• leukocyte disorder
• syndrome