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Year : 2017  |  Volume : 8  |  Issue : 1  |  Page : 33-35

A case of hunter syndrome and Alder-Reilly anomaly

1 Hematology Section, Department of Pathology, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia
2 Hematopathology Section, Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

Correspondence Address:
Nasir A Bakshi
Hematopathology Section, Department of Pathology & Laboratory Medicine, King Faisal Specialist Hospital & Research Centre, PO Box 3354, Riyadh 11211
Saudi Arabia
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/joah.joah_29_16

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A 2-year-old boy presented with delayed speech, hydrocephalus, skeletal deformities, and right-sided hydrocele. On investigation, the peripheral smear revealed Alder–Reilly anomaly in the neutrophils suggesting mucopolysaccharidosis (MPS). Molecular studies were performed, which showed results indicative of diagnosis of either MPS type I Hurler–Scheie or type II Hunter syndrome. Enzyme assays confirmed the diagnosis of MPS type II Hunter syndrome. We present this rare case to highlight the association of Alder–Reilly anomaly in Hunter syndrome and MPS.

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