Gorham-Stout disease affecting the spine with cerebrospinal fluid leakage and Chiari-like tonsillar herniation: a rare case report and review of literature.

BACKGROUND: Gorham-Stout disease (GSD) is a very rare disorder characterized by massive osteolysis of poorly understood aetiology. The association between GSD involving the skull base and cerebrospinal fluid (CSF) leakage has been reported in the literature. However, few cases of CSF leakage and Chiari-like tonsillar herniation in GSD involving the spine have been reported. CASE PRESENTATION: We present the case of a 20-year-old man with GSD involving the thoracic and lumbar spine, which caused CSF leakage and Chiari-like tonsillar herniation. The patient underwent four spinal surgeries for osteolytic lesions of the spine over a 10-year period. Here, we discuss the possible aetiology of the development of CSF leakage. Epidural blood patch (EBP) was performed at the T11-T12 level to repair the CSF leakage. After EBP treatment, rebound intracranial hypertension (RIH) developed, and tonsillar herniation disappeared 2 months later. CONCLUSIONS: GSD involving the spine with CSF leakage and Chiari-like tonsillar herniation is relatively rare. For patients who have undergone multiple spinal surgeries, minimally invasive treatment is an alternative treatment for CSF leakage. EBP can repair CSF leakage secondary to GSD and improve chronic brain sagging, with reversibility of Chiari-like malformations.

Young adult with Gorham's disease presenting in an emergency department: a case report.

INTRODUCTION: Gorham's disease is a very rare musculoskeletal disorder characterized by progressive resorption of one or more skeletal bones. Most of the 200 cases reported earlier are diagnosed before the age of 40 years. Due to rarity, the diagnosis of Gorham's disease in the Emergency Department may be very difficult. CASE PRESENTATION: We report a case of Gorham's disease. A 23-year old Caucasian man presented to the Emergency Department with a significant loss of power and sensation of the lower limbs and lower torso. Clinical examination, computed tomography, and magnetic resonance imaging revealed resorption of the ribs and vertebrae, severe kyphosis, and spinal stenosis in the thoracic area. The patient underwent several surgical procedures, including spondylodesis and decompression, and made a good initial recovery. Biopsy confirmed the diagnosis of Gorham's disease. CONCLUSION: We present a young man with Gorham's disease visiting the Emergency Department. After the proper diagnosis and treatment, our patient had good outcome, although the etiology of this rare disease is uncertain.

Gorham-Stout Disease Resulting in Spinal Deformity Treated by Fusion Surgery Combined With Everolimus Therapy: A Case Report.

CASE: Gorham-Stout disease (GSD) is a rare disorder characterized by progressive localized osteolysis and lymphatic malformation. A 26-year-old woman with GSD presented to our hospital with a Cobb angle of 100° and a kyphosis angle of 88°. Everolimus therapy was initiated to control the disease prior to surgery. After halo-gravity traction for 4 weeks, we performed anterior and posterior spinal fusion. Postoperative computed tomography revealed satisfactory bone union and no significant loss of correction 1 year post-surgery. CONCLUSION: This case suggests that anterior and posterior spinal fusion combined with everolimus therapy can be a therapeutic option for GSD.

Gorham-Stout disease with parietal bone osteolysis: a case series and review of literature.

BACKGROUND: Gorham-Stout disease (GSD) is a rare and idiopathic bone disorder, characterized by massive osteolysis. To date, there is no established treatment strategy for GSD. We empirically treated two patients, who had presented to us with cranial lesions of GSD. Here, we propose a novel algorithm for the management of Gorham's disease based on our experience and review the literature published to date. METHODS: We reviewed all existing literature on GSD describing the pathophysiology and suggested treatment methods, up to 2018. RESULTS: We found 13 papers with 14 reported cases; an inclusion of our two cases brings the total count up to just 16 recorded cases of GSD involving the skull. Of these, the base of the skull was affected in eight cases, while the remaining eight cases showed cranial involvement. The patients with skull-base involvement were managed conservatively, using medications or radiotherapy. The patients with cranial osteolysis were managed surgically, with an excision of the osteolytic portion, followed by cranioplasty. Of the latter group, the pericranium was not removed in one patient, in whom a very slight progression of the osteolytic process was later observed. CONCLUSIONS: The pathogenesis of GSD remains poorly understood. Further study is required to determine an optimum management strategy. A long-term follow-up will also be necessary to establish the effectiveness of the treatment process. The untreated patients show a progressive resorption of the affected bones of the skull. A painful, vanishing skull deformity is an alarming sign of GSD. Early diagnosis and treatment are necessary to arrest disease progression and to prevent complications.

A Large Skull Defect Due to Gorham-Stout Disease: Case Report and Literature Review on Pathogenesis, Diagnosis, and Treatment.

A 24-year old man was referred to the Erasmus MC Bone Center because of an asymptomatic increasing skull defect of the left parietal bone. The defect was first noticed at the age of six, and gradually increased over the years. His medical history was unremarkable, without any known trauma and a negative family history for bone diseases. Laboratory tests showed a low vitamin D level without other abnormalities. Particularly, there was no increase in markers of inflammation or bone turnover. CT-scans of the skull showed an osteolytic region of the parietal skull bone, with a two-centimeter increase in diameter over 9 years. Contrast enhanced MRI showed lymphangiogenic invasion, which was compatible with our suspicion of Gorham-Stout disease. The patient was referred to the neurosurgeon for treatment with a bone graft while considering additional drug treatment. Gorham-Stout or vanishing bone disease is a rare entity characterized by progressive osteolysis with lymphangiogenic bone invasion. Although already reported in 1838, currently the diagnosis and treatment of Gorham-Stout disease is still challenging. The underlying pathophysiology is not clarified yet and several theories exist. The disease usually affects persons younger than 40 years and the majority present with bone disease of the maxillofacial region, the upper extremities or the torso. The clinical presentation includes most frequently pain, swelling, and functional impairment of the affected region, but the disease can also be asymptomatic. Laboratory investigations are usually normal, and diagnosis is based upon imaging and sometimes pathology examination of affected bone tissue. Treatment is experimental and there is no general consensus about the best option due to lack of randomized controlled trials. Case reports showed patients treated with bisphosphonates, interferon-alpha, anti-VEGF therapy, mTOR inhibitors, and radiotherapy. There are some reports of surgery with prosthetic or bone grafts but no long-term follow-up data exist. This paper describes a unique case of Gorham-Stout disease of the parietal skull bone and discusses the current state of knowledge about this rare bone disease.

Management of Gorham Stout disease with skull-base defects: Case series of six children and literature review.

BACKGROUND: Gorham-Stout disease (GSD) is a rare lymphatic disorder which results in bone destruction. Defects of the skull base are difficult to manage, we describe cases to better understand the disease and discuss treatment. METHODS: Retrospective study including all patients treated for GSD skull-base defects. Medical records, clinical, imaging and treatment data were studied. A systematic review of the literature included case reports of the diseases for further analysis. RESULTS: 6 patients (5 males, 1 female) were included. Mean age at diagnosis was 3.5 years (range 0-10). Follow-up was of 5.2 years. Patients were divided into Naso-temporal (NT) and Vertebro-temporal (VT) groups following anatomical location. NT patients (4 patients) all had petrous defects extending anteriorly, including sphenoid, ethmoidal and mandibular defects. They all had cerebro-spinal fluid leak (CSF) and recurrent meningitis (range from 3 to 7). Two of those patients had sequelae including deafness, paralysis and epilepsy. VT patients (2 patients) all had temporal, occipital bone and cervical vertebrae defects. None had CSF leaks but both died from medullar compression (preceded by tetraparesis in one case). Overall, five out of six patients had type I Chiari malformation. Interferon seemed to be the most efficient medical treatment. Surgery included petrectomy, endonasal surgery for CSF leak management and neurosurgery for medullar management but could not guarantee long-term effects. CONCLUSION: Main issues in skull base defects are CSF leaks and medullar compressions. Surgical treatment is necessary in both cases but can only be satisfactory if general medical treatment can stabilise the disease.

A report of two children with Gorham-Stout disease.

BACKGROUND: Gorham-Stout disease is a rare condition characterized by unifocal and massive type IV osteolysis (variant of idiopathic nonhereditary osteolytic disease) with a slow progression, which is self-limiting for some years. It is characterized by recurrent vascular tumors with disruption of the anatomical architecture and intraosseous proliferation of vascular channels that leads to the destruction and resorption of the bone matrix. The aim of this study is to present the clinical features of this disease, as well as the importance of prompt diagnosis and treatment, with a review of the reported cases. CASE REPORTS: We describe two cases of Gorham-Stout disease between 2013 and 2017 with surgical interventions, follow-up and results. Case one involves an 11-year-old male with involvement of the left iliac bone, with adequate evolution after a surgical procedure with a lyophilized cadaveric tricortical bone allograft. Case two involves a 6-year-old male with cervical spine C1-C3 repercussion; in the protocol for surgical treatment, he presented with signs of spinal cord compression and died. CONCLUSION: Diagnosis of Gorham-Stout disease is made by exclusion, and its clinical presentation varies widely, from spontaneous remission to a fatal outcome.

Surgical Management of Gorham-Stout Disease in Cervical Compression Fracture with Cervicothoracic Fusion: Case Report and Review of Literature.

BACKGROUND: Gorham-Stout disease (GSD) or "vanishing bone" disease is characterized by progressive osteolysis with intraosseous lymphangiomatosis (hemangiomatosis). Given its rarity, with about 300 reported cases, its pathophysiology, etiology, and treatment guidelines are not established yet. CASE DESCRIPTION: A 22-year-old man was admitted to Severance Hospital with the chief complaint of neck pain from an injury due to falling. Initial cervical radiography showed a C4 burst fracture, and cervical magnetic resonance imaging revealed diffuse osteolytic lesions with coarse trabeculation with T2 hyperintensity and T1 enhancement in the entire cervical and upper thoracic area. He had a previous history of chylothorax that was still noticeable on a chest radiograph at the time of admission. A 2-stage operation was conducted. First, anterior corpectomy of C4 and anterior plate fixation of C3-5 were performed. Second, a week later, posterior fixation of C3-5 was performed. Thereafter, the patient was discharged without any neurologic complications. However, during the 1-month follow-up, asymptomatic progressive kyphosis was detected via radiography, and posterior cervical fusion of C2-T4 was performed. A minimal postoperative symptom of an intermittent left arm pain of 4-5 on the visual analog scale was experienced. No further deformity progression was noted until the last outpatient follow-up. CONCLUSIONS: Spinal GSD can cause severe deformity and neurologic deficits such as paralysis. Although treatment for GSD is not established, surgical treatment is recommended in severe deformity or aggravated neurologic deficit. The appropriate timing of surgery is after the arrest of osteolysis. Magnetic resonance imaging could be helpful in determining stable GSD.

Gorham's disease: treatment with an autologous iliac bone graft and a reverse total shoulder arthroplasty.

BACKGROUND: Gorham's disease (GSD) is a rare osteolytic disease with unclear etiology, and no known prevention or effective treatment. Here we report a new surgical treatment for a case of GSD in September 2017. CASE PRESENTATION: We report GSD in a 52-year-old woman. She had disappearance of her humeral head and a defect of the glenoid bone in her left shoulder joint, which were serious obstacles to joint function. We used an autologous iliac bone graft to repair the glenoid bone defect and a reverse total shoulder arthroplasty. After surgery, humeral osteolysis did not continue, and her shoulder function recovered well. CONCLUSIONS: This case suggests that autologous bone grafting can still be used to treat GSD despite it being an osteolytic disease. The successful treatment suggests that this method could be used for GSD in other bones.

Gorham-Stout disease of the malleolus: a rare case report.

BACKGROUND: Gorham-Stout disease, also known as vanishing bone disease, idiopathic massive osteolysis, is a rare entity of unknown etiopathology. This disease is characterized by destruction of osseous matrix and proliferation of lymphatic vascular structures and associated with massive regional osteolysis. It has a variable clinical presentation and is commonly considered as a benign disease with a progressive tendency and an unpredictable prognosis. The diagnosis is made by exclusion and based on combination with histological, radiological, and clinical features. Despite that several therapeutic options have shown certain efficacy, the effective treatment still remains controversial and there is no standard treatment to be recommended. CASE PRESENTATION: A previously healthy 40-year-old man presented with right lateral malleolus pain after an ankle sprain and was referred to our hospital. The radiographs indicated rapid massive bone destruction in the distal right lateral malleolus with an unclear margin. Based on the combination with histological, radiological, and clinical features, the diagnosis of Gorham-Stout disease was made. Considering that the residual function of malleolus had to be protected, prior bisphosphonate was used to control the progression of lesion, followed by surgical resection and biological reconstruction with autologous fibular bone grafting. The patient was followed up 8 years after surgery, he presented without progression and recurrence. CONCLUSIONS: We depict a case of Gorham-Stout disease at the right lateral malleolus and was successfully controlled by medication and surgical intervention. Based on the prior effective medical treatment, resection with biological reconstruction is a useful approach to treat Graham-Stout disease in bone.

An overview of the neurosurgical implications, pathophysiology, diagnosis and recent treatment strategies for Grade IV idiopathic osteolysis, also known as Gorham-Stout or phantom bone disease.

OBJECTIVE: Gorham-Stout disease (GSD), commonly referred as vanishing bone or phantom bone disease, is a rare disorder characterized by spontaneous bone osteolysis due to proliferation of lymphangiomatous tissue. This disease can involve multiple bones and cause pathologic fractures. The exact cause of GSD is unknown and its severity is unpredictable; the disorder can potentially cause disfigurement or functional disability. According to CARE guidelines, we studied a 46 years old lady with a progressive defect of the skull. Differential diagnosis included: benign and malignant diploic lesions (eosinophylic granuloma of the skull, myeloma, lytic metastasis from unknown primary tumour, etc) and osteomyelitis. A suspicion of GSD was raised by coupling information from laboratory and nuclear medicine investigations, and eventually confirmed histologically. CONCLUSION: We included early in the investigation protocols a total body fluorine-18-fluorodeoxyglucose positron emission tomography (18F-FDG PET) scan that was extremely helpful to promptly rule out malignant or infective nature of osteolysis. An update on the diagnostic and management options available for GSD, with particular reference to the role of nuclear medicine and the latest clinical trials from international patients registries and classification of idiopathic osteolysis is provided.

Sirolimus Therapy as Perioperative Treatment of Gorham-Stout Disease in the Thoracic Spine: A Case Report.

CASE: Gorham-Stout disease (GSD) is a rare entity that is marked by progressive osteolysis and bone resorption. A 14-year-old boy who was being followed for scoliosis presented with a marked curve progression and kyphoscoliosis. Imaging revealed osteolysis of the posterior elements and the ribs, suggestive of GSD. The structural compromise threatened spinal cord compression. Preoperative sirolimus therapy was initiated to stabilize the disease prior to corrective instrumentation. A biopsy specimen that was obtained at the time of instrumentation showed lymphatic vascular spaces consistent with GSD. Sirolimus therapy with the addition of bisphosphonate therapy was continued postoperatively. CONCLUSION: To our knowledge, this case report is the first to describe sirolimus therapy combined with surgery for GSD of the spine. The patient did well with consecutive medical optimization and surgical intervention, including postoperative sirolimus and bisphosphonate therapy.

Primary versus trauma-induced Gorham-Stout disease.

Gorham-Stout disease - also known as "disappearing bone disease" is currently considered a single entity with varying clinical manifestations. We reviewed the existent literature from the earliest historic description(Jackson in 1838) and Gorham and Stout's original series of patients, multiple case reports and series since. After analyzing 212 reported cases, we identified 76 cases with details that recorded either a history of multifocal disease or an identifiable history of preceding trauma. From this review, we have defined two distinct Gorham-Stout entities - those characteristically associated with lymphangiomatosis [a form of GLA (generalized lymphangiomatosis) questionably distinguishable by bone biopsy and radiologic appearance] with multifocal distributed bone lesions, and those others, usually self-limited, first appearing after a traumatic event and always confined to a single bone or closely adjacent one. Multifocal disease is more likely to have chylothorax as a complication. These two Gorham-Stout entities differ in their demographic distribution, clinical history and manifestations, and they follow divergent clinical courses. The prognosis differs, and so should approaches to monitoring as well as acute and long-term treatment. Further research should seek to identify and define the differences in pathology and molecular mechanisms.

Successful treatment of Gorham-Stout syndrome in the spine by vertebroplasty with cement augmentation: A case report and literature review.

RATIONALE: Gorham-Stout syndrome in the spine is extremely rare, and there is no standard curative management thus far. The objective of this article is to report a very rare case of Gorham-Stout syndrome of the lumbar and sacral spine with chylothorax and chyloperitoneum successfully treated by combination of vertebroplasty with cement augmentation and medication treatment. We described the clinical characteristics and postoperative therapy of the patient, and reviewed all of the published cases of Gorham-Stout syndrome of the lumbar and sacral spine. PATIENT CONCERNS: A 31-year-old man presented with increasingly serious abdominal distention and back pain. MRI showed massive bony destruction of the spine and pelvis. CT and ultrasonography demonstrated massive ascites and mild hydrothorax. DIAGNOSES: We believe this is the first report of a case of Gorham-Stout syndrome with both chylothorax and chyloperitoneum. INTERVENTIONS: Chest and abdominal cavity puncture was performed for symptomatic relief and the test results confirmed chylothorax and chyloperitoneum. Tissue biopsy and percutaneous vertebroplasty at L5 were performed and the postoperative pathology together with symptoms and examinations were reported to be consistent with Gorham-Stout syndrome. Subsequently, we administered combination medical treatment consisting of interferon-α-2b, zoledronic acid and calcitriol. OUTCOMES: At the 1-year and 2-year follow-up visit, he had nearly full complete remission and reported palliative back pain. Moreover, the amount of pleural and peritoneal fluid was successfully reduced gradually. LESSONS: Vertebroplasty by cement augmentation may be a treatment option for patients with Gorham-Stout Syndrome in the spine who cannot undergo appropriate surgery or decline open surgery. This represents a safe and minimally invasive approach to sustainably relieve pain and stabilize vertebral bodies with Gorham-Stout syndrome in the spine.

[Management of postoperative complications in cases of Gorham's disease with cervical spine involvement: A case report]. / Gestion des complications postopératoires dans le cas de la maladie de Gorham de localisation cervicale : cas clinique.

Gorham's disease is a rare osteolytic bone disease, caused by pathological vascular tissue, which may spread to adjacent organs. It is a disease of unknown etiology, primarily involving the axial skeleton and whose treatment is not codified. Cervical spine involvement is unusual. Stabilization of the cervical spine is a real surgical challenge. We report the case of a young adult treated in our neurosurgery department for a cervical spine localization of Gorham's disease.

Successful Management of Gorham-Stout Disease in the Cervical Spine by Combined Conservative and Surgical Treatments: A Case Report.

Gorham-Stout disease (GSD) is a rare condition characterized by intraosseous proliferation of endothelial-lined vessels and progressive osteolysis. The precise etiology and pathophysiology of the disease remain poorly understood. Current therapeutic options for GSD include chemotherapy, radiotherapy, and surgical resection, but the surgical treatment of GSD is difficult, especially in the spinal lesion. The indication of wide-margined resection was limited because of anatomical features. Herein, we report a case of GSD of the cervical spine in which the lesions were successfully stabilized with combined conservative and surgical treatments. A 15-year-old male patient was admitted because of severe neck pain. The patient presented no neurological deficiency. However, the radiological findings revealed osteolytic lesions on the laminae and vertebrae between C1 to C5. An open biopsy confirmed an irregular, thin-walled vessel formation in the bone trabeculae, which was diagnosed as GSD. Conservative treatment was initiated with chemotherapy and radiotherapy. After one and a half year, the osteolytic condition had regressed. Spinal fusion surgery was then performed from C2 to C5 to prevent for progression of the cervical kyphotic changes, and spinal fusion was confirmed 7 months after the surgery. The patient showed no recurrence of GSD in the 5-year follow-up period after surgery. We were able to provide successful treatment by giving priority to the combined conservative treatments. If a patient has no severe deformity or progressive neurologic deficits, it might be better to prioritize conservative treatments and to perform the surgery after the osteolytic changes have stopped.

Gorham Disease.

Gorham disease, a rare condition of unknown etiology, presents as skeletal lucency on radiographs, prompting the classic eponym of vanishing bone disease. Initial clinical presentation varies considerably but typically involves prolonged soreness in the affected region and, rarely, acute pathologic fracture. The nonspecific nature of complaints, lack of markers of systemic illness, and rarity of the disease contribute to delayed diagnosis. Several imaging studies (eg, plain radiographs, computed tomography, magnetic resonance imaging, nuclear studies) provide nonspecific findings, but frank cortical destruction and true "disappearance" of bone with extensive soft-tissue edema are evident. Diagnosis can be rendered only after exclusion of neoplastic and infectious etiologies through clinical and laboratory work-up, imaging studies, and tissue sampling. Although no single or combined treatment modality is considered the gold standard, management generally centers on radiation therapy for local control of large and painful lesions, and on surgical intervention for pathologic progression that would otherwise result in substantial functional limitations. Antiosteoclastic medications, a combination of interferon alpha-2b and low-molecular-weight heparin, and propranolol reportedly have been of some benefit.

Painful sporadic osteolysis of the parietal bone 'Gorham's disease'.

We report a 62-year old man, with painful osteolysis 'Gorham disease' of skull. To ameliorate pain, large craniotomy and cranioplasty was performed. There was no sign of recurrence after one year. A brief review of the literature is presented.