Macroglossia in Beckwith-Wiedemann Syndrome Is Attributed to Skeletal Muscle Hyperplasia

Abstract EN

Macroglossia is a common feature in patients with Beckwith-Wiedemann syndrome (BWS).

The underlying cause of macroglossia in BWS remains unknown, and further histological studies are required to uncover its etiology.

We present the case of a 5-year-old girl who was diagnosed with BWS and underwent partial tongue resection for difficulties in articulation and aesthetics.

The keyhole-shaped partial resection revealed a harder posterior side than the anterior.

Microscopically, the posterior side consisted of dense subepithelial eosinophilic areas composed of an abundance of tightly packed skeletal muscle fibers that were arranged in a fascicular or storiform pattern.

BWS-associated macroglossia results from skeletal muscle hyperplasia, consistent with true macroglossia.

Therefore, tongue resection may be beneficial for such patients.

Further studies are required to develop personalized surgical interventions for each patient with BWS.