When blood smears and bone marrow preparations from patients with Alder–Reilly anomaly are stained and examined microscopically, large, coarse granules may be seen in their neutrophils, monocytes, and lymphocytes.
[1][2]: 477 [3] In addition to mucopolysaccharidosis, Alder–Reilly anomaly may occur in lipofuscinosis[4]: 32 and Tay–Sachs disease.
[5]: 124 While the anomaly is generally considered to exhibit autosomal recessive inheritance,[1][2]: 477 it may also occur in carriers who are heterozygous for the Tay–Sachs mutation, although the inclusions are much less frequent than in homozygotes.
[5]: 124 Alder–Reilly anomaly is not diagnostic of any disorder and does not correlate with disease severity.
The granules tend to be round or comma-shaped and may be surrounded by a clearing in the cytoplasm.