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Hunter Syndrome: The Pediatric Surgeon's Point of View
Emmanuelle Seguier-Lipszyc1, Keren Kremer1, David Hoppenstein2
1Department of Pediatric Surgery, Meir Medical Center, Kfar Saba, Israel, Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.
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.
Insights
Early recognition of Mucopolysaccharidosis type II (Hunter syndrome) in children is crucial. Pediatric surgeons play a key role in identifying surgical patterns for earlier diagnosis and treatment.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Surgery
Background:
- Mucopolysaccharidosis type II (Hunter syndrome) is a rare, progressive lysosomal storage disorder.
- Late diagnosis is common due to nonspecific early symptoms and low clinical awareness.
Purpose of the Study:
- To emphasize the importance of pediatric surgeons in the early detection of Hunter syndrome.
- To correlate clinical and surgical presentations with timely diagnosis.
Main Methods:
- Retrospective review of patients diagnosed with MPS II.
- Analysis of presenting symptoms, diagnostic timing, and factors influencing suspicion and treatment.
Main Results:
- Four boys diagnosed with MPS II between 2012 and 2021.
- Three patients diagnosed later (2.5-4 years) with systemic symptoms.
- One patient diagnosed earlier due to a pediatric surgeon's recognition of clinical patterns.
Conclusions:
- Enhanced awareness and familiarity with MPS II among pediatric surgeons are vital for early diagnosis.
- Recognizing early surgical signs like hernias can prompt earlier suspicion.
- Earlier diagnosis facilitates timely enzyme replacement therapy, improving patient outcomes before disease progression.
