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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.
The Israel Medical Association Journal : IMAJ
|May 18, 2026
Summary
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.
