[MIM 123 880]

(Gorham - Stout syndrome, Breschet-Gorham-Stout syndrome, diffuse cystic angiomatosis of bone, massive Gorham osteolysis, phantom bone disease, diffuse idiopathic osteolysis) 

Massive osteolysis localized to some parts of the skeleton (shoulder, hip, sometimes vertebrae) following an abnormal non-neoplasic  proliferation of capillaries and lymph vessels, sometimes complicated by lymphangiomatosis. A somatic mutation of the KRAS gene (12p12) could be involved. Secondarily, the lyzed bone is replaced by fibrous tissue. Clinical manifestation: tumors, bone pain, pathological fractures, sometimes chylothorax (= Gorham-Stout). The tumor can also erode the dura and provoke a leakage of CSF and an intracranial hypotension syndrome (orthostatic headache): a Chiari malformation type I (see Arnold-Chiari) was observed in several cases of Gorham syndrome caused by an undiagnosed leak (internal) of CSF at the lumbar or pleural level.

At bone radiography: an initial image of inhomogeneous osteoporosis followed by a progressive osteolysis and a complete disappearance of the bone (and sometimes joint) which is replaced by a very vascularized fibrous tissue.

Difficult treatment: sclerotherapy with bleomycin, doxycycline or ethanol. Sometimes intraosseous sclerotherapy or antiangiogenic treatment with sirolimus or interferon a2b. More rarely: localized radiotherapy.

Anesthetic implications: 

interactions with treatment (bleomycin ?); check the X-ray of the cervical spine (is a cervical vertebra affected ?). Risk of respiratory failure (pleural effusion). If there are signs of intracranial hypotension, looking for a Chiari malformation type I and/or a CSF leak.

References : 

-        Mangar D, Murtha PA, Aquilina TC, Connell R.  
Anesthesia for a patient with Gorham’s syndrome : « disappearing bone disease ». 
Anesthesiology 1994; 80: 466-8.

-         Szabo C, Habre W. 
Gorham syndrome: anaesthetic management. 
Anaesthesia 2000; 55: 157-9.

-         Yildiz T, Kus A, Solak M, Toker K. 
The Gorham-Stout syndrome : one lung ventilation with a bronchial blocker. A case of Gorham’s disease with chylothorax. 
Pediatr Anesth 2009 ; 19 : 190-2.

-        Kose M, Pekcan S, Dogru D et al. 
Gorham-Stout syndrome with chylothorax : successful remission by interferon alpha 2b. 
Pediatr Pulmonol 2009; 44: 613-5.

-        Sahoo RK, Jagannathan B, Palanichamy G, Natarajan V. 
Anaesthetic consideration in patients with Gorham’s syndrome: a case report and review of the literature.
Indian J Anaesth 2012; 56: 391-3

-        Adler F, Gupta N, Hess CP, Dowd CF, Dillon WP. 
Intraosseous CSF fistula in a patient with Gorham disease resulting in intracranial hypotension. 
AJNR 2011; 32, E198-E200

-        Situma M, Alexander A, Weiselthaler N, Millar A. 
An aggressive lymphatic malformation (Gorham’s disease) leading to death of a child.
J Pediatr Surg 2013; 48: 239-42. 

-        Wang Z, Li K.
A girl with Gorham-Stout disease.
J Pediatr 2018; 203: 456

-        Yoshimoto S, Takai K, Takahashi K, Yasui T, Taniguchi M.
Intracranial hypotension and hypertension: reversible Chiari malformation due to dynamic cerebrospinal fluid abnormalities in Gorham-Stout disease. Case report.
J Neurosurg Pediatr 2018; 22: 508-12.

-        Simon F, Luscan R, Khonsari RH, Toubiana J et al.
Management of Gorham Stout diease with skull-base defects : case series of six children and literature review.
Int J Pediatr Otorhinolaryngol 2019 ; 124 : 152-6

-        Gendre A, Boyer J, Michel G.
Cerebrospinal fluid in the middle ear in a child.
JAMA Otolaryngology–Head & Neck Surgery 2023 ;  E1-2 (Feb 23)

Updated: March 2023