What question did this study set out to answer?

To explore the effectiveness of oral rapamycin in treating symptoms of Bannayan-Riley-Ruvacalba syndrome (BRRS) associated with PTEN mutation.

February 25, 2011

Oral rapamycin in the treatment of patients with hamartoma syndromes and PTEN mutation

Puntos clave

To explore the effectiveness of oral rapamycin in treating symptoms of Bannayan-Riley-Ruvacalba syndrome (BRRS) associated with PTEN mutation.
Case report of a 6-year-old male with BRRS treated with oral rapamycin.
Documented progressive loss of function in the left hand and forearm.
Assessment of pain and mobility before and after treatment.
The patient regained pain-free full mobility of the left hand and forearm after treatment with oral rapamycin.
Significant improvement in symptoms observed.

Resumen

Bannayan-Riley-Ruvacalba syndrome (BRRS) belongs to the PTEN hamartoma tumor syndromes and is characterized by a high risk of malignancy in early adulthood added to local destructive effects of hamartomas in childhood. There is no standard treatment for this condition and patients are usually offered symptomatic surgical relief. Rapamycin has been reported to be effective in the management of other conditions associated with PTEN mutation. We report here a case of BRRS in a 6-year-old male with progressive loss of function of left hand and forearm associated with pain. He was treated with oral rapamycin and regained pain-free full mobility.

Preguntar a la IA

Me gusta

Guardar