Abstract
The Gorham-Stout’s disease, also known as massive osteolysis or evanescent bone disease; is an extremely rare disease characterized by a proliferation of intraosseous lymphatic channels causing progressive osteolysis. Usually, surgery, sclerotherapy and radiotherapy have been reserved for local and symptomatic control of the disease, while medical treatments have presented variable results that are not entirely satisfactory according to literature. The recent identification of germline-activating somatic mutations in the PIK3CA gene has opened the way to treatment with mTOR inhibitors, being Sirolimus an effective option with a low incidence of serious adverse effects. We present a patient diagnosed with GSD and treated with Sirolimus who showed clinical and radiological improvement at 8 months of follow-up.
Recommended Citation
González Cayón, Jesús; San Basilio Berenguer, Maria del Carmen; Moreno Alfonso, Julio César; De la Puente Pérez, Santiago; Triana Junco, Paloma; and López Gutiérrez, Juan Carlos
(2025)
"Diagnosis and Initial Tratment of Gorham-stout’s Disease,"
Journal of Pediatric Genetics: Vol. 14:
Iss.
2, Article 4.
DOI: https://doi.org/10.53391/2146-460X.1014
Available at:
https://jpg.researchcommons.org/journal/vol14/iss2/4