Purpose or Case Report: Hemihyperplasia is most classically associated with Beckwidth Wiedemann, though there are many cases which are associated with other syndromes or are idiopathic in nature. Current screening recommendations for hemihyperplasia do not distinguish between different subtypes of hemihyperplasia. The purpose of this study was to determine whether there is a statistically significant difference in incidence of development of abdominal tumors between hemihyperplasia patients with Beckwidth Wiedemann Syndrome and Non Beckwidth Wiedemann associated hemihyperplasia.
Methods & Materials: A retrospective review of hemihyperplasia patients seen in a genetics clinic between 2000 and 2022 was performed. Patients were stratified based on presence or abscence of a genetic subtype of Beckwidth Wiedemann. Clinical documentation and imaging findings on screening abdominal ultrasound studies for these patients were reviewed. All of these patients were recommended to pursue screening abdominal ultrasounds until age 8, as per consensus guidelines. Within the subset of patients who did not develop abdominal masses, patients who were still within the imaging screening window as of present or who were lost to followup while still within the imaging screening window were excluded from the study. Patients who developed imaging evidence of solid abdominal tumors and/or had pathologically proven abdominal malignancy during the screening window were counted as positive cases. Chi-square analysis was performed to compare the incidence of tumors between the two groups.
Results: There were 20 patients with a genetically confirmed Beckwidth Wiedemann Syndrome (BWS) subtype who met inclusion criteria for the study. Of these patients, 5 of them developed imaging evidence of solid abdominal masses and/or had pathologically proven malignancy . There were 34 patients with hemihyperplasia not associated with Beckwidth Wiedemann syndrome who met inclusion criteria. Of these patients, 2 of them developed imaging evidence of abdominal tumor. There was a statistically significant difference in incidence of abdominal tumors between the BW and non BW hemihyperplasia patients(p value of .0434, significant at p<0.05)
Conclusions: Within our cohort, the incidence of abdominal tumor development in BWS patients was higher than that in patients with Non-BWS associated hemihyperlasia. This data suggests that patients with BWS may benefit more from current imaging screening guidelines than patients with hemihyperplasia not assocaited with BWS.