Summary

Background:

Mucopolysaccharidosis type II (Hunter syndrome [MPS II]) is a rare, progressive, lysosomal storage disorder, often diagnosed late due to nonspecific early features and limited clinical awareness.

Objectives:

To highlight the role of pediatric surgeons in early recognition based on clinical and surgical presentations.

Methods:

We retrospectively reviewed patients diagnosed with MPS II at our institution focusing on presenting symptoms, timing of diagnosis, and factors leading to diagnostic suspicion and treatment.

Results:

Four boys were diagnosed between 2012 and 2021. Three were diagnosed at 2.5–4 years of age following typical systemic manifestations. The fourth patient was suspected earlier by a pediatric surgeon, whose prior familiarity with similar reported cases enabled recognition of the clinical pattern and led to an earlier diagnosis.

Conclusions:

Increased awareness and clinical familiarity among pediatric surgeons are essential for early recognition of MPS II. Recognition of early surgical patterns, such as hernias and recurrent procedures in early childhood, highlights the role of pediatric surgeons in raising diagnostic suspicion, facilitating earlier diagnosis, and enabling earlier initiation of enzyme replacement therapy before disease progression, ultimately improving clinical outcomes.