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.

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 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.

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.

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.

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.

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.

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.

Vertebroplasty in a 10-year-old boy with Gorham-Stout syndrome.

PURPOSE: To describe our experience using balloon vertebroplasty with polymethylmethacrylate filler in a 10-year-old boy with Gorham-Stout syndrome. Gorham-Stout syndrome is a rare disorder of unknown etiology characterized by intraosseous proliferation of fibrovascular or lymphatic tissue that results in progressive osteolysis and bone destruction. It can affect any part of the skeleton and lead to pathological fractures and muscular weakness or atrophy. The literature contains few reports on the surgical management of vertebral osteolysis with risk of fracture in children. Spinal fusion is the treatment of choice. METHODS: The patient was asymptomatic until age 10 years, when he began to experience back pain. Annual magnetic resonance scans did not show progression of bone disease. Medical treatment was unsuccessful, and the visual analog scale (VAS) for lumbar back pain was 8-10. Balloon vertebroplasty with polymethylmethacrylate filler was performed at L3 and L4, the vertebrae with an increased risk of pathological fracture. RESULTS: The postoperative course was uneventful. One month after surgery the VAS was 2-3. Four years later, the patient remains free of procedure-related complications, his clinical situation is stable, and no further low back pain has been reported. CONCLUSIONS: We report the only application to date of vertebroplasty to treat vertebral osteolysis in a pediatric patient. The outcome and possible complications of this technique remain unknown in children. The patient in the present report underwent vertebroplasty at two levels, and his progress remains satisfactory 4 years after surgery. He has not developed technical complications or changes in spinal growth. Therefore, we propose vertebroplasty for the treatment of vertebral osteolysis in pediatric patients at risk of pathological fracture.

Reossification in Gorham's disease of the hand and wrist with unusual CT and MR imaging features.

Gorham's disease (GD) rarely occurs in the hand and wrist. Only nine cases of GD in the hand and wrist have been reported in the literature. The imaging technique used in all nine cases was mainly radiography. The natural history of GD is unpredictable. Spontaneous regression has been reported in a few cases. There is no consensus about the most efficient treatment of GD. Surgical resection and reconstruction with bone grafts and/or prostheses are used sparingly as bone grafts tend to be resorbed in most cases. We report a case of GD that involved the right hand and wrist in a 26-year-old male. The lesion displayed multiple areas of osteolysis in the metacarpals, carpals and proximal phalanx of the base of the thumb on radiography, while on CT and MRI, the osteolytic areas showed homogeneous density and signal intensity, similar to that of fluid. The patient was successfully treated by surgical reconstruction with autogenous iliac bone grafts. Gradual reossification in the osteolytic areas had occurred by the 3-year follow-up evaluation. This case merits special attention because of the unusual location of the involvement, unusual CT and MR imaging findings and unusual reossification in the osteolytic areas.

Complex single step skull reconstruction in Gorham's disease - a technical report and review of the literature.

BACKGROUND: Gorham's disease is a rare osteolytic disorder characterized by progressive resorption of bone and replacement of osseous matrix by a proliferative non-neoplastic vascular or lymphatic tissue. A standardized treatment protocol has not yet been defined due to the unpredictable natural history of the disease and variable clinical presentations. No single treatment has proven to be superior in arresting the course of the disease. Trials have included surgery, radiation and medical therapies using drugs such as calcium salts, vitamin D supplements and hormones. We report on our advantageous experience in the management of this osteolyic disorder in a case when it affected only the skull vault. A brief review of pertinent literature about Gorham's disease with skull involvement is provided. CASE PRESENTATION: A 25-year-old Caucasian male presented with a skull depression over the left fronto-temporal region. He noticed progressive enlargement of the skull defect associated with local pain and mild headache. Physical examination revealed a tender palpable depression of the fronto-temporal convexity. Conventional X-ray of the skull showed widespread loss of bone substance. Subsequent CT scans showed features of patchy erosions indicative of an underlying osteolysis. MRI also revealed marginal enhancement at the site of the defect. The patient was in need of a pathological diagnosis as well as complex reconstruction of the afflicted area. A density graded CT scan was done to determine the variable degrees of osteolysis and a custom made allograft was designed for cranioplasty preoperatively to allow for a single step excisional craniectomy with synchronous skull repair. Gorham's disease was diagnosed based on histopathological examination. No neurological deficit or wound complications were reported postoperatively. Over a two-year follow up period, the patient had no evidence of local recurrence or other systemic involvement. CONCLUSIONS: A single step excisional craniectomy and cranioplasty can be an effective treatment for patients with Gorham's disease affecting the skull vault only. Preoperative planning by a density graded CT aids to design a synthetic bone flap and is beneficial in skull reconstruction. Systemic involvement is variable in this patient's population.

Total Joint Replacement for Severe Bilateral Condylar Resorption--Gorham-Stout Syndrome.

Gorham-Stout syndrome is an extremely rare bone disorder characterized by osteolytic bony resorption. It is of unknown etiology and thought to result from localized endothelial proliferation of lymphatic vessels that cause the bony resorption. Diagnosis of Gorham-Stout can only be made after excluding other common causes of bony resorption such as those caused by infection, inflammation, malignancy, and endocrine. The clinical symptoms vary from minor pain and swelling to non-healing fractures from minor injuries. Due to the rarity of the disease, the overlap of symptoms with other diseases, and uncertain etiology, very few cases of Gorham-Stout syndrome have been reported. The disease is characterized by gradual resorption of bone particularly the bones of shoulder, skull, thorax, and spine, although long bones may also be affected. We present the case of a 45-year-old male patient who presented to the maxillofacial department with marked facial asymmetry leading to functional and aesthetic problems, showing massive osteolysis of both his mandibular condyles and majority of his ramus.

Gorham disease of the mandible.

Gorham disease, or massive osteolysis, is a rare condition of unknown etiology. The disease is characterized by spontaneous progressive osteolysis of 1 or more skeletal bones. The mandible is the most commonly involved bone in the maxillofacial region. This article reports a case of Gorham disease with mandibular involvement in a 46-year-old male patient with a 7-year follow-up. In this case, we performed lower right mandibular osteotomy and reconstruction with a phased titanium plate. Postoperative follow-up showed continued mandibular bone loss that was progressing to the contralateral mandible. Massive osteolysis of the mandible is a rare clinical condition that must be differentiated from mandibularosteomyelitis, benign and malignant tumors, as well as hyperparathyroidism. Improved differential diagnoses and disease follow-up are required to effectively manage massive osteolysis.

Treatment of early-onset Gorham syndrome with 8-year follow-up.

A case of Gorham disease with several years of follow-up is reported. At birth he had a mass in the thigh which was had pathology demonstrating a lymphangioma. By age 3 years, he had lymphedema of the ipsilateral foot and discrepant leg lengths. Radiography revealed heterogenous dystrophy of the bones and osteolysis of the hallux. At age 6, a spontaneous fracture of the right tibia was treated with surgery. Histopathology of a bone sample demonstrated bone remodelling, fibrous tissue, and large vascular lacunas within bone tissue, bordered by cells expressing the lymphaticmarker D2-40. At 8 years old, lymphedema of the right inferior leg had increased, leg lengths still differed, but other clinical signs were absent.

Idiopathic multicentric osteolysis: upper extremity manifestations and surgical considerations during childhood.

PURPOSE: Idiopathic multicentric osteolysis (IMO) is an uncommon disease presenting during childhood with resorption of the carpus and tarsus with nephropathy. The few case reports and literature reviews do not focus on the upper extremity disease manifestations or surgical treatment options. We review our experience with the upper extremity in IMO. METHODS: We evaluated 8 affected children, specifically assessing early disease manifestations, misdiagnoses, radiographic progression, and surgical treatments rendered. RESULTS: Wrist pain and swelling are typically the first manifestations of IMO. Characteristic upper extremity findings, once the disease has progressed, include metacarpophalangeal joint hyperextension, wrist ulnar deviation and flexion, and loss of elbow extension. Radiographically, there is osteolysis of the carpus and proximal metacarpals with resorption of the elbow joint in some patients. Surgical treatments, including soft tissue release with pinning or joint arthrodesis, may offer pain relief and improve alignment, but outcomes are inconsistent. CONCLUSIONS: Children with IMO are almost always misdiagnosed initially, and the correct diagnosis may be delayed by years. The hand surgeon is ideally suited to provide an accurate diagnosis of IMO, because wrist pain and swelling and thumb interphalangeal joint contracture are common early manifestations. TYPE OF STUDY/LEVEL OF EVIDENCE: Prognostic IV.

Gorham disease in the maxilla.

Gorham disease is a rare condition that is characterized by the proliferation of thin-walled vascular channels associated with regional osteolysis. The exact etiology of Gorham disease is unknown. The diagnosis of Gorham disease is based on clinical, radiological, and histological features after excluding osteolysis, which is secondary to other pathologic processes. Those pathologic processes include congenital, metabolic, neoplastic, and immunologic etiologies and infections. The appearance of the disease in the craniofacial region often involves the mandible. In the reported literature (English language only), there is 1 reported case of the disease located in the maxilla alone. In this study, we present another case of Gorham disease that presents in the maxilla of a 37-year-old man.

Gorham-Stout disease and cerebrospinal fluid otorrhea.

OBJECTIVE AND IMPORTANCE: Gorham-Stout disease is a rare entity characterized by vascular proliferation causing local destruction of bone tissue. Owing to its low incidence and variable clinical presentation, the diagnosis requires a high degree of awareness by the clinician. CLINICAL PRESENTATION: We present the case of a 2-year-old boy diagnosed of Gorham-Stout syndrome with involvement of the temporal bone and secondary cerebrospinal fluid (CSF) leakage. INTERVENTION: Because of the CSF leakage, the patient required two surgical interventions. The second intervention included mastectomy and placement of a patch and a lumbar drainage device during 50 days, after which the leakage ceased. CONCLUSION: Gorham-Stout disease is a rare condition that can affect the skull base and even present with CSF leakage.

Thirty-year follow-up of patient with Gorham disease (massive osteolysis) treated with hip arthroplasty.

Gorham disease (also known as massive osteolysis or disappearing bone disease) is an exceedingly rare, peculiar entity of uncertain cause and unpredictable prognosis. There is no proven mode of therapy or consensus on treatment. We present 30-year follow-up on a patient successfully treated with resection, total hip arthroplasty, and radiation with no recurrence of disease. Our observations in this case suggest that surgical treatment and reconstruction can lead to good long-term function and disease-free survival.

Massive osteolysis of the mandible.

We describe a case of massive osteolysis (MO) of the mandible and review related literature. Massive osteolysis in the craniofacial region is a rare condition characterized by progressive absorption of involved bones leading to craniofacial deformities. Currently, the cause and pathophysiology of MO are unclear, and its management or treatment continues to be based on clinical experiences. In our institution, we treat MO of the mandible with surgery; however, this kind of therapeutic management has been unsuccessful.

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.