Israel Medical Association Journal

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.

Background: Despite the large volume of evidence on the management of retained products of conception (RPOC), there are virtually no data regarding the optimal time frame of surgical intervention in case of RPOC.

Objectives: To examine whether the time interval between spontaneous vaginal delivery or pregnancy termination and the uterine evacuation due to pathologically confirmed RPOC influences the reproductive outcome.

Methods: We retrospectively reviewed all the records of women who were admitted to our department due to pathologically confirmed RPOC following either spontaneous vaginal delivery or pregnancy termination between January 2000 and December 2010. Based on the median time from delivery or pregnancy termination until the operative intervention in the study group, patients were stratified into two groups: early intervention (< 3 weeks) and late intervention (> 3 weeks). Reproductive outcomes were compared between the two study groups. 

Results: Reproductive outcomes were analyzed in 172 patients with pathologically confirmed RPOC. Of them, 95 (55.2%) were included in the early intervention group and 77 (44.8%) in the late intervention group. There were no significant differences in the conception rate, mean time to conception, and the occurrence rate of a new infertility problem in women with early surgical intervention compared to those with late surgical intervention (P > 0.05). Furthermore, there was no significant difference between the groups in the pregnancy outcomes following RPOC. 

Conclusions: Early surgical intervention in women with pathologically confirmed RPOC following spontaneous vaginal delivery or pregnancy termination yields the same reproductive outcomes as late surgical intervention.