PBS Key Features:^1,2

Granulocytes show metachromatic and darkly staining inclusions (Alder-Reilly bodies)  containing partially digested mucopolysaccharides that resemble toxic granulation but are permanent (non-transient). Anomaly is differentiated from toxicity by a lack of Dohle bodies, left shift, and neutrophilia. Abnormal granules may also be seen in lymphocytes and monocytes.

Cause:^1,2

Incomplete degradation of mucopolysaccharides (Mucoplysaccharidosis disorder)

Inheritance Pattern:^1-3

Autosomal recessive

Clinical Significance:^1-5

Leukocyte function is not impaired. Associated syndromes include Tay‐Sachs disease, Hunter syndrome, Hurler syndrome, and Maroteaux-Lamy polydystrophic dwarfism which all result in different clinical symptoms.

CBC:

N/A

References:

1. Marionneaux S. Nonmalignant leukocyte disorders. In: Rodak’s hematology clinical applications and principles. 5th ed. St. Louis, Missouri: Saunders; 2015. p. 475-97.

2. Harmening DM, Marty J, Strauss RG. Cell biology, disorders of neutrophils, infectious mononucleosis, and reactive lymphocytosis. In: Clinical hematology and fundamentals of hemostasis. 5th ed. Philadelphia: F.A. Davis Company; 2009. p. 305-30.

3. Turgeon ML. Nonmalignant Disorders of Granulocytes and monocytes. In: Clinical hematology: theory and procedures. 4th ed. Philadelphia, PA: Lippincott Williams & Wilkins; 1999. p. 206-16.

4. Bain BJ. Morphology of blood cells. In: Blood cells: a practical guide [Internet]. 5th ed. Chichester, UK: John Wiley & Sons, Ltd; 2015 [cited 2018 Jul 10]: 67-185. Available from: http://doi.wiley.com/10.1002/9781118817322

5. Landis-Piwowar K. Nonmalignant disorders of leukocytes: granulocytes and monocytes. In: Clinical laboratory hematology. 3rd ed. New Jersey: Pearson; 2015. p. 388-407.