Table 1.

Reported cases of GSD treated with sirolimus (rapamycin)

Author	Gender	Agea	Nationality	Therapy	Sirolimus Dose	Manifestation	Follow up after treatment	Outcome
Cramer et al. [5]	male	18 yrs	U.S	Sirolimus zoledronic acid thoracoscopic surgery	Titrated to 9-12 mg/L, twice daily	intractable pleural effusion, and multiple rib fractures	18 mos	effusion improved and no further skeletal fracture
Araujo et al. [6]	male	5 yrs	Brazil	Sirolimus Interferon	1 mg/twice daily	ribs and sternum lesions and haemothorax	8 mos	pulmonary parenchyma normal and good bone remodelling
Garcia et al. [7]	female	43 yrs	Spain	Sirolimus Surgery	Titrated to 4-10 mg/L, twice daily	pleural effusion, abdominal mass, rib	2 mos	symptoms vanish
Mohammad et al. [8]	male	12 yrs	Malaysia	Sirolimus	NA	right chylothorax, right clavicle, humerus and ulna osteolysis	NA	responded well
Mohammad et al. [8]	male	8 yrs	Malaysia	Sirolimus	NA	cervical and thoracic spine lytic bone lesion and massive left pleural effusion	3 mos	responded poorly
Colin et al. [9]	female	3 yrs	Mexico	Sirolimus	0.05 mg/kg/d	right femur, skull osteolysis, left femur pathologic fracture	NA	control of the disease with no pain
Cakir et al. [10]	female	2 yrs	Turkey	Sirolimus	NA	right sided pleural effusion, ribs and thoracic and lumbar vertebral lytic lesions	14 mos	symptoms and signs vanish
Wei et al. [11]	female	17 yrs	U.S	Sirolimus	NA	right femur pathological fracture	7 mos	symptoms and signs vanish
Hall et al. [12]	female	10 yrs	U.S	Sirolimus	NA	right 9th rib osteolysis	24 mos	controlled
Gordon et al. [13]	female	13 yrs	Britain	Sirolimus	Titrated to 10-15 mg/L, twice daily	multiple vertebral body and pelvic osteolysis	NA	chylous leakage ceased, pain remission, and no further bone destruction
Mo et al. [14]	male	14 yrs	U.S	Sirolimus	Titrated to 7–13 mg/L, twice daily	thoracic spine and rib osteolysis	26 mos	symptoms and signs vanish
Wang et al. [3]	female	3 yrs	China	Sirolimus	Titrated to 10-15 mg/L, twice daily	humerus and scapula osteolysis and resorption in clavicle. right-sided pleural effusion	13 mos	The mass shrank and discolored skin lessened
Nozawa et al. [15]	male	27 yrs	Japan	Sirolimus+ radiotherapy+ bisphosphonates	2 mg/day	extraosseous soft-tissue mass; multiple osteolysis	6 mos	responded poorly
Suero et al. [16]	male	26 yrs	Germany	Sirolimus+ thoracoscopic pleurodesis	NA	compression fracture of the vertebrae and pleural effusion	48 mos	Recurrence (30 months after withdrawal)
Cho et al. [17]	female	11 yrs	Korea	Sirolimus+ propranolol	Titrated to 9-12 mg/L, twice daily	right clavicle and 1st rib osteolytic cortical resorption and chyle leakage	24 mos	symptoms are well-controlled
Present case	male	1 yr	China	Sirolimus+ thoracoscopic surgery	Titrated to 7–13 mg/L, twice daily	clavicle resorption. right-sided pleural effusion and right femur fracture	26 mos	symptoms and signs vanish

^a Age at initiation of sirolimus treatment