Nesibe ANDIRAN, HALİSE AKÇA, Sadi TÜRKAY, Nedim SARIFAKIOĞLU

Beckwith-Wiedemann Sendromu’nda cerrahi gerektiren dil büyüklüğü

Beckwith-Wiedemann Sendromu (BWS) 11p15,5 loku-sundaki genleri etkileyen epigenetik olaylar veya mutas-yonlar sonucu oluşan nadir bir genetik hastalıktır. Çoğunlukla sporadiktir, az bir kısmı ailevi geçiş gösterir. Makrozomi, makroglossi ve karın ön duvarı defektleri üç ana bulgusudur ve makroglossi kraniyofasyal anomalile-rin içinde en sık görülenidir. Sporadik BWS’li bebeklerin önemli bir kısmının yardımcı üreme teknikleri [in-vitro fertilizasyon (IVF)-hücre içi sperm enjeksiyonu (ICSI)] kullanılarak doğmuş olması dikkat çekmiş ve yardımcı üreme teknikleri ile BWS arasında ilişki gösterilmiştir. Burada ICSI gebeliği olan ve 5 yaşında iken ağır dil büyüklüğü nedeni ile gelerek BWS tanısı alıp, buna yöne-lik cerrahi gerektiren bir olgu sunulmaktadır.

Macroglossia which is requiring surgery in Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann Syndrome is a rare genetic disorder due to disruption of the genomic imprinting of one or more genes or mutations at 11p15.5 locus. Most cases are sporadic, only few are familial. BWS is characterized mainly by macroglossia, macrosomia and abdominal wall defects. Macroglossia is the most common one among the craniofacial anomalies. It was noticed that most patients with sporadic BWS are the product of conceptions with assisted reproductive technologies and the association between BWS and assisted reproductive technologies is confirmed with many studies. Here, we report a 5 years old female patient, presented with severe macroglossia which required “wedge resection” and diagnosed as BWS, who was the product of an intracytoplasmic sperm injection pregnancy.

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