A case of hunter syndrome and Alder-Reilly anomaly

Abstract

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.

Keywords

• Alder–reilly
• hunter syndrome
• mucopolysaccharidosis
• Case Report