Case Of Gorham-Stout Disease Research Articles

Gorham-Stout syndrome with cervical involvement treated with radiotherapy: a case report

Gorham-Stout disease (GSD), vanishing bone or phantom bone disease, is an uncommon disease whose etiology is uncertain and its pathophysiology poorly understood. This syndrome is characterized by the spontaneous destruction of the bone matrix associated with massive osteolysis and proliferation of lymphatic vascular structures in the affected areas. In the present article we present a case of GSD in a 10-year-old male patient with osteolytic lesions affecting the skull base, including the occipital bone, the petrous portion of the temporalis and clivus, as well as the vertebral bodies from C1 to C5. This syndrome should be suspected when there is bone pain that does not subside with analgesic treatment. An initial study with an x-ray will help us infer the disease in search of a bone deformity. The treatment depends on the characteristics of the lesion, the best being surgery with radiotherapy.

An Atypical Cause of a Child Limp: A Gorham-Stout Disease with a Vanishing Hip.

Gorham-Stout disease (GSD) is a rare bone disease characterized by an abnormal proliferation of endothelial-lined vessels and destruction of the affected bone. As it affects commonly children and young adults, it is associated with significant morbidity and mortality. To date, there is no established treatment strategy for GSD. We report through this observation a rare case of GSD in a child located in the hip and the iliac crest.

Identification of a Biallelic Missense Variant in Gasdermin D (c.823G > C, p.Asp275His) in a Patient of Atypical Gorham-Stout Disease in a Consanguineous Family.

Gorham-Stout disease (GSD), also called vanishing bone disease, is a rare osteolytic disease, frequently associated with lymphangiomatous tissue proliferation. The causative genetic background has not been noted except for a case with a somatic mutation in KRAS. However, in the present study, we encountered a case of GSD from a consanguineous family member. Whole-exome sequencing (WES) analysis focusing on rare recessive variants with zero homozygotes in population databases identified a homozygous missense variant (c.823G > C, p.Asp275His) in gasdermin D (GSDMD) in the patient and heterozygous in his unaffected brother. Because this variant affects the Asp275 residue that is involved in proteolytic cleavage by caspase-11 (as well as -4 and -5) to generate an activating p30 fragment required for pyroptotic cell death and proinflammation, we confirmed the absence of this cleavage product in peripheral monocytic fractions from the patient. A recent study indicated that a shorter p20 fragment, generated by further cleavage at Asp88, has a cell-autonomous function to suppress the maturation of osteoclasts to resorb bone matrix. Thus, the present study suggests for the first time the existence of hereditary GSD cases or novel GSD-like diseases caused by GSDMD deficiency. © 2023 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.

Gorham-Stout disease of skull base leading to cranial settling and rhinorrhea: a case-based review.

Gorham-Stout disease (GSD) is a rare progressive osteolytic disorder, theoretically caused by lymphovascular endothelial proliferation. Spinal involvement carries a dismal prognosis because of neurological consequences. Lesions of the skull base are extremely rare and entail even more devastating prognosis due to cervical instability and cerebrospinal fluid (CSF) leakage. Due to scarcity of this condition, the aim of this study was to give an overview of skull base GSD and review the cases with such condition reported in the literature. In this case-based review, different aspects of skull base GSD are discussed, and a sample clinical case of GSD leading to cranial settling and rhinorrhea is presented. The characteristics, symptoms, and managements of all English-language PubMed-reported cases were reviewed, and different features of presentation and methods of treatments were analyzed. Based on the literature review, most of the cases encountered serious problems in the course of the disease. Meningitis/CSF leakage was detected in 12 of 26 collected cases, followed by hearing loss/tinnitus/otitis media in 10 cases, headache in 8, and neck pain/stiffness in 8 patients. Despite a variety of treatments, improvement was only observed in 8 of 26 collected cases. The reminders showed either stable condition or worsening and death. All cases of GSD of the skull base should be evaluated for rhinorrhea/otorrhea and cranial settling, both of them being among the most life-threatening conditions. Since definite treatment, in order to stop disease progression, is sometimes impossible, symptomatic and supportive treatment should be started as possible.

Gorham-Stout Disease in a Middle-Aged Patient Treated by Posterior Lateral Fusion: A Case Report and Literature Review

Gorham-Stout disease (GSD) is a rare progressive osteolytic disease with intraosseous lymphangiomatosis. A previously healthy 55-year-old woman presented with left leg hypoesthesia and upper back pain. k pain, back pain, and bilateral shoulder pain. In radiologic examination, there was an osteolytic lesion in T3, 4, 5, 6 vertebra. And a dislocation in the T3/4 vertebrae and a compression fracture in the T4 vertebra were founded. She was treated with posterolateral fusion (PLF) from C7 to T7. For 1 year, she had no specific symptoms but a new osteolytic lesion was found on thoracic T8 on 1 year follow-up magnetic resonance imaging. Radiotherapy was performed with 40 Gy, and chemotherapy was performed with denosumab. This report described a case of GSD that involved the thoracic spine and was appropriately managed. In the present case of a middle-aged Asian woman, correction of severe thoracic instability and prevention of neurologic compromise were accomplished through PLF from C7 to T7. Recurrence was observed 1 year later, but it was appropriately treated with neoadjuvant therapy.

Gorham-Stout disease of the spine presenting with intracranial hypotension and cerebrospinal fluid leak: A case report and review of the literature

Background: Gorham-Stout (GS) disease or “vanishing bone disease” is rare and characterized by progressive, spontaneous osteolysis resulting in loss of bone on imaging studies. Treatment modalities include combinations of medical and/or surgical treatment and radiation therapy.Case Description: A 14-year-old female with GS disease presented with a 1-year history of thoracic back pain and atypical headaches consistent with intracranial hypotension. Magnetic resonance imaging and operative findings demonstrated a spontaneous thoracic cerebrospinal fluid leak (CSF) (e.g., that extended into the pleural cavity) and complete osteolysis of the T9-10 posterior bony elements (e.g., including the rib head, lamina, and transverse processes). The patient underwent repair of CSF fistula followed by a T6-11 instrumented fusion.Conclusion: This case of GS disease, involving a thoracic CSF fistula and absence/osteolysis of the T9-T10 bony elements, could be successfully managed with direct dural repair and an instrumented T6-T11 fusion.

A case report of Gorham-Stout disease diagnosed during the course of recurrent meningitis and cholesteatoma

BackgroundGorham-Stout disease is a rare bone disorder. Here, we present a case of Gorham-Stout disease diagnosed during follow-up of a patient with cholesteatoma; the disease affected the temporal bone and other sites of the skull. To the best of our knowledge, this is the first report of Gorham-Stout disease diagnosed with recurrent cerebrospinal leakage after surgery to treat cholesteatoma.Case presentationA 25-year-old male patient re-presented to our department for the first time in 7 years with otorrhea in the right ear and recurrent meningitis. The patient had a history of multiple surgeries for cholesteatoma and suffered from recurrent cerebrospinal fluid leakage, which initially was thought to be caused by recurrence of cholesteatoma. Therefore, skull base reconstruction was planned. However, the underlying cause was identified eventually as defects in the temporal bone caused by massive osteolysis due to Gorham-Stout disease. Skull base reconstruction was abandoned because the osteolysis was considered to be progressive. Conservative treatment with infectious control was implemented as an alternative.ConclusionThis case describes unusual temporal bone osteolysis after cholesteatoma surgery and the importance of considering the possibility of multiple concurrent diseases in such individuals. The distinguishing features of this case are the fact that the temporal bone had disappeared, and deconstruction was complicated by infection and inflammation caused by cholesteatoma, surgical invasion, and Gorham-Stout disease. Appropriate diagnosis saved the patient from ineffective multiple surgeries for cerebrospinal fluid leakage or cholesteatoma, and improved his quality of life.

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

BackgroundGorham-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 presentationA 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.ConclusionsWe 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-Stout disease in the rib and thoracic spine with spinal injury treated with radiotherapy, zoledronic acid, vitamin D, and propranolol: A case report and literature review.

Gorham-Stout disease (GSD) is a rare bone condition that is characterized by the spontaneous, idiopathic and progressive proliferation of blood or lymphatic vessels, which replace the bone and marrow space. The precise etiology and pathophysiology of GSD remain poorly understood. Therefore, there is no consensus on the treatment of this disease. In the current study, a rare case of GSD in the rib and thoracic spine with spinal injury that was treated with radiotherapy, zoledronic acid, vitamin D and propranolol, is reported. A 77-year-old man visited the hospital complaining of constipation for 10 days. Within a few days, the patient had recognized complete paralysis of the bilateral lower legs. Radiologically, large osteolytic lesions were confirmed in the 6, 7 and 8th right ribs, the 6 and 7th thoracic vertebrae and in the liver and spleen. The lesions were diagnosed as GSD based on clinical findings, imaging characteristics and needle biopsy results. The patient was treated with zoledronic acid, activated vitamin D, propranolol and radiotherapy to the thoracic vertebrae. However, approximately 5 months after the first treatment, the rapidly increasing hemorrhagic pleural effusion compressed the left lung and caused a mediastinal shift to the right thorax. Unfortunately, the patient succumbed to the disease 7 months after first admission. To the best of our knowledge, this is the first reported case of GSD in the rib and thoracic spine with spinal injury to be treated with radiotherapy, propranolol, vitamin D and zoledronic acid. Furthermore, there have been no previous reports of a mediastinal shift caused by intralesional hemorrhage in GSD. For future reference, it should be noted that such processes may occur in GSD lesions of the thoracic spine and/or thorax. The present case will therefore contribute to a deeper understanding of GSD, a rare clinical entity.

Management of a pathological fracture in a rare case of Gorham Stout disease of the hip with a mega prosthesis

Gorham-Stout disease (GSD) is a rare bone disease of unknown etiology, characterized by spontaneous and progressive resorption of bones. This disease occurs most commonly in males of the age group of fewer than 40 years and has no genetic predisposition. It most commonly affects the skull, spine, pelvis and shoulder girdle. The diagnosis of GSD is established based on the combination of clinical, radiologic, and histological features, after excluding other diseases. There is no standard treatment for it so far, and the therapy depends on patient's clinical condition and may include surgery, radiotherapy, and drugs, with varying degrees of success. To the best of our knowledge such involvement of hip and its treatment by a megaprosthesis, in an elderly lady by GSD has not been reported. This case report describes an unusual presentation of the disease of the hip in an elderly female successfully treated with replacement of the deficient proximal femur by using a bipolar hip mega prosthesis of the hip (XLO, India).

A case of Gorham-Stout disease with progressive cutaneous involvement

A case of Gorham-Stout disease with progressive cutaneous involvement

Massive Gorham-Stout syndrome of the pelvis

Gorham-Stout disease is defined as a spontaneous, massive, and nonfamilial idiopathic osteolysis. The diagnosis is based essentially on radiological and histological findings. Biopsy reviews always reveal excessive intraosseous nonmalignant proliferation of small vessels, which results in bone resorption and may extend to adjacent bones and soft tissues. These lesions are progressively replaced by extensive fibrosis. Since its first description in 1955, there is still controversy about its prognosis, etiology, and treatment. A case of Gorham-Stout disease, located on the right pelvis, is reported with 50 years of clinical and radiographic follow-up, in a man who has never been treated. To date, this is the longest documented case report of the disease and its rare natural history. It demonstrates that after a variable time of evolution, the massive osteolysis is able to undergo spontaneous arrest and that the lesions may remain stable during several decades. Besides, no reossification was observed, even after 37 years of disease quiescence. Based on a large review of the literature, the authors then discuss the prognosis, etiopathology, and different therapeutic options available to halt the progression of the osteolysis.