Clinical and radiological improvement in Gorham-Stout disease after sirolimus treatment.

BACKGROUND: Gorham-Stout disease (GSD) is a rare syndrome characterized by lymphatic malformations, mainly in bone structures, causing progressive osteolysis. Lymphatic endothelial cell proliferation depends on several growth factors that use the phosphoinositide-3 kinase (PI3K)/Akt pathway and converge on the mammalian target molecule of the rapamycin (mTOR) pathway. These findings have allowed treating GSD with mTOR pathway inhibitors such as sirolimus or everolimus. CASE REPORT: We present the case of a one-year-old female patient referred to our institution after a right femur fracture and progressive limb volume increase, disproportionately to the trauma. After several episodes of soft tissue infections, imaging studies showed pseudarthrosis, lytic lesions, and progressive loss of the right femur that ended in total absence. A femur biopsy showed lymphatic structures positive with D2-40 staining, diagnosing GSD. After six months of non-response to traditional treatments, the limb was disarticulated at the hip level, and oral sirolimus treatment was initiated, showing clinical and radiological improvement with minor lytic lesions and evidence of ossification after 20 months of treatment. CONCLUSIONS: Oral sirolimus treatment for GSD inhibits angiogenesis and osteoclastic activity, stimulating bone anabolism and leading to arrested osteolysis progression and improved ossification, quality of life, and patient prognosis. Therefore, sirolimus should be considered a therapeutic option for this rare disease.

INTRODUCCIÓN: La enfermedad de Gorham-Stout es un trastorno poco frecuente caracterizado por malformaciones linfáticas localizadas sobre estructuras óseas que causan osteólisis progresiva. La proliferación de células endoteliales linfáticas depende de factores de crecimiento que utilizan la vía de la fosfoinositida-3 cinasa (PI3K)/Akt y convergen en la vía de la molécula diana de rapamicina de los mamíferos (mTOR). Este conocimiento ha permitido el tratamiento de esta enfermedad con inhibidores de esta vía como sirolimus o everolimus. CASO CLÍNICO: Se presenta el caso de una paciente de sexo femenino de un año referida a nuestra institución tras presentar fractura de fémur derecho y aumento de volumen de dicha extremidad posterior a un traumatismo. Después de diversos episodios de infecciones de tejidos blandos se realizaron estudios de imagen que mostraron pseudoartrosis, lesiones líticas y ausencia total del fémur derecho, así como una biopsia de fémur que mostró estructuras vasculares positivas con tinción D2-40, diagnosticándose enfermedad de Gorham-Stout. Durante su abordaje, se realizó la desarticulación de la extremidad a nivel de la cadera y se inició tratamiento con sirolimus oral, presentando una mejoría clínica y radiológica con menores lesiones líticas y evidencia de osificación posterior a 20 meses de tratamiento. CONCLUSIONES: El tratamiento con sirolimus oral para la enfermedad de Gorham-Stout inhibe la actividad osteoclástica y la angiogénesis, estimulando el anabolismo óseo que resulta en la detención de la progresión de la osteólisis y una mejoría en la osificación, la calidad de vida y el pronóstico del paciente. Por tal motivo, el sirolimus debe considerarse como una opción terapéutica para esta enfermedad.

Clinical and radiological improvement in Gorham-Stout disease after sirolimus treatment / Mejoría clínica y radiológica en la enfermedad de Gorham-Stout después del tratamiento con sirolimus

Abstract Background: Gorham-Stout disease (GSD) is a rare syndrome characterized by lymphatic malformations, mainly in bone structures, causing progressive osteolysis. Lymphatic endothelial cell proliferation depends on several growth factors that use the phosphoinositide-3 kinase (PI3K)/Akt pathway and converge on the mammalian target molecule of the rapamycin (mTOR) pathway. These findings have allowed treating GSD with mTOR pathway inhibitors such as sirolimus or everolimus. Case report: We present the case of a one-year-old female patient referred to our institution after a right femur fracture and progressive limb volume increase, disproportionately to the trauma. After several episodes of soft tissue infections, imaging studies showed pseudarthrosis, lytic lesions, and progressive loss of the right femur that ended in total absence. A femur biopsy showed lymphatic structures positive with D2-40 staining, diagnosing GSD. After six months of non-response to traditional treatments, the limb was disarticulated at the hip level, and oral sirolimus treatment was initiated, showing clinical and radiological improvement with minor lytic lesions and evidence of ossification after 20 months of treatment. Conclusions: Oral sirolimus treatment for GSD inhibits angiogenesis and osteoclastic activity, stimulating bone anabolism and leading to arrested osteolysis progression and improved ossification, quality of life, and patient prognosis. Therefore, sirolimus should be considered a therapeutic option for this rare disease.

Resumen Introducción: La enfermedad de Gorham-Stout es un trastorno poco frecuente caracterizado por malformaciones linfáticas localizadas sobre estructuras óseas que causan osteólisis progresiva. La proliferación de células endoteliales linfáticas depende de factores de crecimiento que utilizan la vía de la fosfoinositida-3 cinasa (PI3K)/Akt y convergen en la vía de la molécula diana de rapamicina de los mamíferos (mTOR). Este conocimiento ha permitido el tratamiento de esta enfermedad con inhibidores de esta vía como sirolimus o everolimus. Caso clínico: Se presenta el caso de una paciente de sexo femenino de un año referida a nuestra institución tras presentar fractura de fémur derecho y aumento de volumen de dicha extremidad posterior a un traumatismo. Después de diversos episodios de infecciones de tejidos blandos se realizaron estudios de imagen que mostraron pseudoartrosis, lesiones líticas y ausencia total del fémur derecho, así como una biopsia de fémur que mostró estructuras vasculares positivas con tinción D2-40, diagnosticándose enfermedad de Gorham-Stout. Durante su abordaje, se realizó la desarticulación de la extremidad a nivel de la cadera y se inició tratamiento con sirolimus oral, presentando una mejoría clínica y radiológica con menores lesiones líticas y evidencia de osificación posterior a 20 meses de tratamiento. Conclusiones: El tratamiento con sirolimus oral para la enfermedad de Gorham-Stout inhibe la actividad osteoclástica y la angiogénesis, estimulando el anabolismo óseo que resulta en la detención de la progresión de la osteólisis y una mejoría en la osificación, la calidad de vida y el pronóstico del paciente. Por tal motivo, el sirolimus debe considerarse como una opción terapéutica para esta enfermedad.

Síndrome de Gorham Stout en un paciente pediátrico. Presentación de un caso

Dentro de la clasificación de los síndromes de osteòlisis idiopática, la enfermedad de Gorham-Stout ocupa el cuarto lugar. Es un cuadro clínico caracterizado por la destrucción progresiva de tejido óseo y proliferación vascular, con angiomatosis y linfangiomatosis ósea que produce una osteòlisis progresiva del esqueleto, con pérdida de masa ósea en las áreas afectadas. Este artículo tiene como objetivo presentar un paciente pediátrico con síndrome de Gorham Stout atendido en el Hospital Provincial Pediátrico Universitario José Luis Miranda, de Villa Clara. Es una paciente femenina, de dos años de edad, con cuadro febril de una semana de evolución, aumento de volumen en región dorsal y pérdida de peso. Al examen físico se constataron palidez cutáneo-mucosa y lesión nodular indolora de tres centímetros en la región dorsal. Reapareció la fiebre y se observó marcado aumento de volumen en la región dorso lumbar. Mediante tomografía axial computarizada y resonancia magnética se evidenció osteòlisis de cuerpos vertebrales desde D8 a L2 y aumento de las partes blandas adyacentes. Las manifestaciones clínicas e imagenológicas obligaron a descartar etiologías infecciosas y neoformativas. Se descartaron las primeras y por cumplir con los criterios requeridos se concluyó como enfermedad de Gorham. Esta es una rara y peculiar condición patológica músculo-esquelética en la cual el hueso, virtualmente, se desintegra y es reemplazado por tejido conectivo vascular. Su etiología es especulativa, con una presentación clínica muy variable. Los estudios imagenológicos resultan de gran utilidad. Posee un pronóstico indeterminado a pesar de las opciones terapéuticas empleadas. Por ser un síndrome extremadamente raro se decidió la presentación del caso.

Within the idiopathic osteolysis syndromes classification, Gorham-Stout disease ranks fourth. It is a clinical picture characterized by the progressive destruction of bone tissue and vascular proliferation, with angiomatosis and bone lymphangiomatosis that produces a progressive osteolysis of the skeleton, with loss of bone mass in the affected areas. This article aims to present a pediatric patient with Gorham Stout syndrome treated at the José Luis Miranda University Pediatric Provincial Hospital in Villa Clara. A 2-years-old female patient with a one week fever evolution, increased volume in the dorsal region and weight loss. The physical examination revealed cutaneous-mucosal pallor and a three centimeters painless nodular lesion in the dorsal region. The fever recurred and a marked increase in volume was observed in the dorsal lumbar region. Computed axial tomography and magnetic resonance imaging revealed osteolysis of the vertebral bodies from D8 to L2 and an increase in the adjacent soft tissues. The clinical and imaging manifestations made it necessary to dismiss infectious and neoformative etiologies. The former were dismissed and because they fulfill the required criteria it was concluded as Gorham's disease. This is a rare and peculiar musculoskeletal pathological condition in which bone virtually disintegrates and is replaced by vascular connective tissue. Its etiology is speculative, with a highly variable clinical presentation. Imaging studies are very useful. It has an indeterminate prognosis despite the therapeutic options used. Because it is an extremely rare syndrome, the presentation of the case was decided.

Gorham-Stout Disease with Clinical Response to Sirolimus Treatment.

Gorham-Stout disease (GSD) is a rare clinical entity of unknown aetiology, with osseous resorption, vascular structure proliferation and inflammation of adjacent soft tissues. The clinical spectrum varies from asymptomatic patients to patients with pain, functional limitation or deformity. GSD may affect 1 or multiple bones in any location; however, predilection for the maxillofacial area and upper limbs has been described. We present the case report of a 33-year-old male patient with facial pain and loss of dental pieces; imaging showed extensive lytic involvement of the mandible and cranial bones. After exclusion of malignant, metabolic, infectious, or autoimmune disease, a diagnosis of GSD was made. Treatment with sirolimus was prescribed, achieving a symptomatic improvement and stability of imaging findings. The importance of the knowledge of this orphan disease is highlighted, to achieve a prompt diagnosis and medical treatment. LEARNING POINTS: Gorham-Stout syndrome constitutes an orphan disease with an unknown aetiology, it must be considered in young patients with osteolysis of unknown cause.The diagnosis of Gorham-Stout syndrome is an exclusion one.Drugs with antiproliferative and antiangiogenic activity such as mTOR inhibitors are an attractive option for the management of this disease.

Correlación clínico-radiológica como primera ruta en el diagnóstico de síndrome de Gorham-Stout / Clinical-radiological correlation as the first route in the diagnosis of Gorham-Stout syndrome

Resumen El síndrome de Gorham-Stout constituye una rara enfermedad ósea cuya etiología sigue siendo desconocida, que se caracteriza por presentar osteólisis y proliferación anormal de canales vasculares. Se describe el caso de un paciente masculino de 47 años quien consultó por un cuadro de aproximadamente 15 días de evolución consistente en edema, dolor, eritema y secreción sero-hemática por herida quirúrgica en hombro derecho, con diagnóstico reciente de artritis séptica. Refería antecedente de síndrome de Gorham-Stout, evidenciándose al examen físico y radiografía comparativa de hombros. La presentación clínica de estos pacientes depende del área afectada y la extensión de la enfermedad, convirtiéndose su diagnóstico en un desafío en caso de que el deterioro se presente en zonas no expuestas. El principal síntoma consiste en dolor localizado, acompañado de hinchazón, debilidad y deterioro funcional de las extremidades afectadas. Estos pacientes pueden permanecer asintomáticos hasta sufrir una fractura ósea espontáneamente o después de un trauma menor

Abstract Gorham-Stout syndrome is a rare bone disease whose etiology remains unknown, characterized by osteolysis and abnormal proliferation of vascular channels. We describe the case of a 47-year-old male patient who consulted for 15 days of evolution of edema, pain, erythema and seroma expulsion from surgical wound in the right shoulder, with a recent diagnosis of septic arthritis. He referred a history of Gorham-Stout syndrome, evidenced with physical examination and comparative radiography of the shoulders. The clinical presentation of these patients depends on the affected area and the extent of the disease, making their diagnosis a challenge in case the deterioration occurs in unexposed areas. The main symptom is localized pain, accompanied by swelling, weakness and functional impairment of the affected limbs. These patients may remain asymptomatic until suffering a bone fracture spontaneously or after minor trauma

Síndrome de Gorham Stout. Reporte de Caso

RESUMEN El Síndrome de Gorham Stout (GSS) es una enfermedad ósea de etiología desconocida, caracterizada por osteólisis, absorción idiopática y progresiva. Se presenta a cualquier edad, sin predilección por género o raza, puede afectar cualquier parte del esqueleto, el diagnóstico que se realiza es clínico, radiológico e histopatológico y por exclusión de otras afecciones comunes. El compromiso espinal es extremadamente raro y de mal pronóstico. También afecta las vísceras, una complicación común es el desarrollo de quilotórax, que ocurre en aproximadamente 20% de los pacientes y con lleva una alta tasa de mortalidad. No existen métodos de diagnósticos o tratamientos estándar para la enfermedad. Plantea un desafío para los médicos a la hora de diagnosticar y tratar adecuadamente al paciente. Se presenta el caso de una paciente de 5 años de edad, diagnosticada y manejada por un equipo multidisciplinario en el Hospital General Pediátrico (HGP), con revisión de la literatura.

ABSTRACT Gorham Stout Syndrome (GSS) is a bone disease of unknown etiology, characterized by idiopathic osteolysis and progressive absorption. It occurs at any age, without predilection for gender or race; it can affect any part of the skeleton, the diagnosis is clinical, radiological and histopathological and by exclusion of other common conditions. Spinal involvement is extremely rare and has a poor prognosis. It also affects the viscera, a common complication is the development of chylothorax, which occurs in approximately 20% of patients and carries a high mortality rate. There are no standard diagnostic methods or treatments for the disease. It poses a diagnostic and therapeutic challenge for clinicians. We present the case of a 5-year-old patient, diagnosed and managed by a multidisciplinary team at the Pediatric General Hospital (HGP), with a review of the literature on the topic.

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.

Thoracic spine dislocation in Gorham-Stout Syndrome: Case report and literature review.

BACKGROUND: The Gorham-Stout syndrome (GSS), also known as phantom bone disease, is a rare bone condition of unknown etiology. Involvement of the spine is described in <50 cases in the literature. Here, we report a case of thoracic spine fracture dislocation in a young female who was known to have GSS. CASE DESCRIPTION: A 23-year-old female developed a left spontaneous hemothorax 10 years previously along with left ribs lytic lessions. Pleural and rib biopsies diagnosed angiomatosis and the clinical diagnosis of GSS was established. Following a minor trauma, she presented with a Frankel B deficit attributed to a T3-T4 fracture dislocation with severe spinal cord compression. The patient underwent halo traction with CT. Following reduction, decompression and C5 to T8 with instrumented fusion (posterior only), she neurologically improved to Frankel D, 2 years postoperatively. CONCLUSION: Although GSS is a rare condition in the spine, it may lead to gross instability and catastrophic vertebral fracture/dislocation with paraparesis. Acute spinal cord decompression with stabilization may be warranted to achieve neurological improvement.

Two cases of Gorham-Stout disease with good response to zoledronic acid treatment.

Gorham-Stout disease - also called vanishing bone syndrome - is a rare bone disease characterized by a progressive intra-osseous proliferation of non-neoplastic vascular tissue resulting in massive osteolysis. Here, we report two clinical cases of Gorham-Stout disease. Case 1: a 56-year-old woman with 20 years of history of pain and swell in elbows, ankles and wrist. Then she was diagnosed as systemic lupus erythematosus (SLE) with glomerulonephritis type III. After other pathologies were ruled out Gorham-Stout disease was diagnosed. Intravenous zoledronic acid (5 mg) was indicated and after third infusion a progressive improvement of pain, mobility and daily activities were observed. Case 2: a 70-years-old man with a history of pain and limited motion in the left shoulder without X-ray abnormality. Six months later pathological fracture in the left humerus occurred and after ruled out other pathologies Gorham-Stout disease was diagnosed. Intravenous zoledronic acid (5 mg) was indicated and a good response was observed after the first infusion. Nowadays just over 200 cases were reported. Gorham-Stout disease was reported in different bones, at different age presentation and severe physical deformities, disabilities, and life-threatening complications can occur. Two cases of Gorham-Stout disease with good response to zoledronic acid was reported in this article.

Gorham-Stout Disease: a Clinical Case Report and Immunological Mechanisms in Bone Erosion.

Gorham-Stout disease (GSD) is a rare condition of osteolysis with excessive lymphangiogenesis within bone tissue. The etiology of this condition remains unknown but seems to affect mainly children and young adults of both genders all over the world. Unfortunately, there is no standardized method for diagnosis; however, histopathology remains as the gold standard. This condition is often misdiagnosed due to its varying clinical presentations from case-to-case. Here, we report the case of an 8-year-old girl who presented with chronic mandibular pain during mastication and received multiple antibiotic treatment due to infectious origin suspicion. After integrating information from clinical manifestations, radiographic, laboratory, and histopathology information, she was diagnosed with GSD. Additionally, due to the lack of literature with respect to insights into biological mechanisms and standardized treatment for this condition, we underwent a literature revision to provide information related to activation of cells from the immune system, such as macrophages, T-cells, and dendritic cells, and their contribution to the lymphangiogenesis, angiogenesis, and osteoclastogenic process in GSD. It is important to consider these mechanisms in patients with GSD, especially since new studies performed in earlier stages are required to confirm their use as novel diagnostic tools and find new possibilities for treatment.

Sirolimus on Gorham-Stout disease. Case report / Sirolimus en la enfermedad de Gorham-Stout. Caso clínico

Abstract Background: Gorham-Stout disease (GSD) is a rare disease of unknown etiology characterized by vascular proliferation that produces destruction of bone matrix. Case description: This case is about 43 year old woman who begins with pain in sternum, dyspnea, abdominal mass and, serous-hematic pleural effusion. Imaging tests were performed showing lesions on 6th and 10th left ribs archs. Later, a thoracotomy was performed observed absence of the end of the 6th and lung, pleural and costal biopsy was token. The histologic features described lymphatic vascular proliferation in bone tissue of chest wall. Other pathologies were excluded and in view of the findings, GSD diagnosis was made. Treatment and outcome: treatment was initiated with sirolimus achieving remission of the disease after the first month; however, because the presence of metrorrhagia the treatment was discontinued, reappearing symptoms afterwards. For that reason the treatment was restarted getting disappearance of the symptoms again, 4 weeks later. Clinical relevance: we present the first clinical cases of EGS with pleural effusion with response to sirolimus treatment that could be an alternative to the current therapy.

Resumen Antecedentes: La enfermedad de Gorham-Stout (EGS), es una enfermedad poco común, de etiología desconocida, caracterizada por la proliferación vascular que produce destrucción de la matriz ósea. Caso clínico: Se presenta el caso de mujer de 43 años que comienza con dolor en el esternón, disnea y tumoración abdominal junto con derrame pleural izquierdo de características serohemáticas como forma de presentación de una EGS. En pruebas de imagen que mostraron lesiones líticas en el 6º y 10º arcos costales izquierdos. Posteriormente se realizó toracotomía con biopsia pulmonar, pleural y costal observándose ausencia del extremo de la 6ª costilla. En el estudio histopatológico se describe proliferación vascular linfática en tejido óseo de pared costal. Se excluyeron otras patologías y se diagnosticó EGS. Tratamiento y resultado: Se inició tratamiento con sirolimus consiguiendo remisión completa desde el primer mes. Sin embargo, tras la suspensión del tratamiento por metrorragias, presentó reaparición de los síntomas. Se decide entonces reiniciar el tratamiento, consiguiendo nuevamente desaparición de los síntomas, tras 4 semanas de tratamiento. Relevancia clínica: Se presenta el primer caso clínico de EGS en edad adulta con derrame pleural asociado y con respuesta clínica a sirolimus, fármaco que podría ser una alternativa a la terapéutica actual.

Sirolimus on Gorham-Stout disease. Case report.

BACKGROUND: Gorham-Stout disease (GSD) is a rare disease of unknown etiology characterized by vascular proliferation that produces destruction of bone matrix. CASE DESCRIPTION: This case is about 43 year old woman who begins with pain in sternum, dyspnea, abdominal mass and, serous-hematic pleural effusion. Imaging tests were performed showing lesions on 6th and 10th left ribs archs. Later, a thoracotomy was performed observed absence of the end of the 6th and lung, pleural and costal biopsy was token. The histologic features described lymphatic vascular proliferation in bone tissue of chest wall. Other pathologies were excluded and in view of the findings, GSD diagnosis was made. TREATMENT AND OUTCOME: treatment was initiated with sirolimus achieving remission of the disease after the first month; however, because the presence of metrorrhagia the treatment was discontinued, reappearing symptoms afterwards. For that reason the treatment was restarted getting disappearance of the symptoms again, 4 weeks later. CLINICAL RELEVANCE: we present the first clinical cases of EGS with pleural effusion with response to sirolimus treatment that could be an alternative to the current therapy.

ANTECEDENTES: La enfermedad de Gorham-Stout (EGS), es una enfermedad poco común, de etiología desconocida, caracterizada por la proliferación vascular que produce destrucción de la matriz ósea. CASO CLÍNICO: Se presenta el caso de mujer de 43 años que comienza con dolor en el esternón, disnea y tumoración abdominal junto con derrame pleural izquierdo de características serohemáticas como forma de presentación de una EGS. En pruebas de imagen que mostraron lesiones líticas en el 6º y 10º arcos costales izquierdos. Posteriormente se realizó toracotomía con biopsia pulmonar, pleural y costal observándose ausencia del extremo de la 6ª costilla. En el estudio histopatológico se describe proliferación vascular linfática en tejido óseo de pared costal. Se excluyeron otras patologías y se diagnosticó EGS. TRATAMIENTO Y RESULTADO: Se inició tratamiento con sirolimus consiguiendo remisión completa desde el primer mes. Sin embargo, tras la suspensión del tratamiento por metrorragias, presentó reaparición de los síntomas. Se decide entonces reiniciar el tratamiento, consiguiendo nuevamente desaparición de los síntomas, tras 4 semanas de tratamiento. RELEVANCIA CLÍNICA: Se presenta el primer caso clínico de EGS en edad adulta con derrame pleural asociado y con respuesta clínica a sirolimus, fármaco que podría ser una alternativa a la terapéutica actual.

Presentación atípica del síndrome de Gorham-Stout: Caso clínico / Atypical presentation of Gorham-Stout syndrome: Case report

El síndrome de Gorham-Stout es una patología ósea extremadamente rara de etiología desconocida, caracterizada histopatológicamente por proliferación de los canales vasculares, que origina destrucción y resorción de la matriz ósea. Se presenta el caso de un paciente varón de nueve años de edad con un cuadro agudo caracterizado por fiebre, dolor torácico, dificultad respiratoria y disnea ante pequeños esfuerzos. Se realizaron estudios de imágenes y patología, en los que se encontraron lesiones liticas múltiples y presencia de un linfangioma mediastínico. Se diagnosticó síndrome de Gorham-Stout. Esta es una presentación atípica debido a la localización de la linfangiomatosis y al tamaño de la masa.

Gorham-Stout syndrome is an extremely rare pathology, of unknown etiology. It is characterized by proliferation of vascular channels that causes destruction and reabsorption of the bone matrix. We present a nine year-old male patient with an acute episode characterized by fever, chest pain, respiratory distress and dyspnea. The patient was submitted to computed tomography scan and a biopsy. The findings in the biopsy were multiple lytic lesions, osteolysis, and a mediastinal lymphangioma (lymphangiomatosis). The diagnosis was Gorham-Stout syndrome with atypical presentation.

Presentación atípica del síndrome de Gorham-Stout: Caso clínico / Atypical presentation of Gorham-Stout syndrome: Case report

El síndrome de Gorham-Stout es una patología ósea extremadamente rara de etiología desconocida, caracterizada histopatológicamente por proliferación de los canales vasculares, que origina destrucción y resorción de la matriz ósea. Se presenta el caso de un paciente varón de nueve años de edad con un cuadro agudo caracterizado por fiebre, dolor torácico, dificultad respiratoria y disnea ante pequeños esfuerzos. Se realizaron estudios de imágenes y patología, en los que se encontraron lesiones liticas múltiples y presencia de un linfangioma mediastínico. Se diagnosticó síndrome de Gorham-Stout. Esta es una presentación atípica debido a la localización de la linfangiomatosis y al tamaño de la masa.(AU)

Gorham-Stout syndrome is an extremely rare pathology, of unknown etiology. It is characterized by proliferation of vascular channels that causes destruction and reabsorption of the bone matrix. We present a nine year-old male patient with an acute episode characterized by fever, chest pain, respiratory distress and dyspnea. The patient was submitted to computed tomography scan and a biopsy. The findings in the biopsy were multiple lytic lesions, osteolysis, and a mediastinal lymphangioma (lymphangiomatosis). The diagnosis was Gorham-Stout syndrome with atypical presentation.(AU)

Doença de Gorham da escápula e clavícula: relato de caso e evolução de dois anos de uma afecção rara / Gorham's disease of scapula and clavicle: case report and two-year follow-up of a rare disorder

A doença de Gorham é uma rara desordem osteolítica, de etiologia controversa, que pode afetar qualquer osso. O substrato histopatológico é a substituição óssea por uma formação expansiva de natureza vascular agressiva, não neoplásica. Descrevemos os achados radiográficos, tomográficos e de ressonância magnética de um caso desta afecção acometendo a escápula esquerda e, dois anos depois, a clavícula ipsilateral.

Gorham's disease is a rare osteolytic disorder of still controversial etiology that may affect any bone. The histopathological substrate for such a condition is the replacement of normal bone by aggressive non-neoplastic expansile vascular tissue. The authors describe radiographic, computed tomography and magnetic resonance imaging findings in a case of this entity initially affecting the left scapula and, two years later, the ipsilateral clavicle.