Alder–Reilly anomaly

Alder–Reilly anomaly, or Alder anomaly, is an inherited abnormality of white blood cells associated with mucopolysaccharidosis. 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. The condition may be mistaken for toxic granulation, a type of abnormal granulation in neutrophils that occurs transiently in inflammatory conditions.[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.[4]:32 Affected white blood cells function normally.[2]:477

Alder–Reilly inclusions stain appear violet when treated with Wright–Giemsa stain and, in mucopolysaccharidosis, stain metachromatically with toluidine blue. Metachromatic staining is not seen in Tay–Sachs disease. The granules tend to be round or comma-shaped and may be surrounded by a clearing in the cytoplasm.[5]:124

References
  1. John P. Greer; Daniel A. Arber; Bertil E. Glader; Alan F. List; Robert M. Means; George M. Rodgers (19 November 2018). "Chapter 59: Qualitative disorders of leukocytes". Wintrobe's Clinical Hematology (14th ed.). Wolters Kluwer Health. ISBN 978-1-4963-6713-6.
  2. Elaine Keohane; Larry Smith; Jeanine Walenga (20 February 2015). Rodak's Hematology: Clinical Principles and Applications. Elsevier Health Sciences. ISBN 978-0-323-23906-6.
  3. American Association for Clinical Chemistry (2018-12-09). "Blood Smear". Lab Tests Online. Retrieved 2019-12-25.
  4. Lila Penchansky (6 December 2012). Pediatric Bone Marrow. Springer Science & Business Media. ISBN 978-3-642-18799-5.
  5. Barbara J. Bain (11 November 2014). Blood Cells: A Practical Guide. Wiley. ISBN 978-1-118-81729-2.


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