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.

Diagnosis and treatment progress of primary bone lymphoma / 中国医师进修杂志

Primary bone lymphoma(PBL)is rare and has no specific clinical features.A mouth-eaten pattern of bone destruction in metaphysic or subchondral bone and a large soft-tissue mass with little cortical destruction are important imaging features of primary bone lymphoma. The final diagnosis mainly depends on the histopathological features and the expression of specific proteins showing by immunohistochemical staining. It bears a good outcome after radiation and chemical therapy. The operation is not a routine therapy method.So, it is important to make accurate diagnosis before radiation and chemical therapy. In this article, we reviewed the clinical diagnosis, treatment, and prognosis of primary bone lymphoma.

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.

Clinical and imaging features of Gorham disease:a report of eleven cases and review of literature / 中华放射学杂志

Objective To evaluate the clinical and radiological features of Gorham disease. Methods Clinical and radiological features of Gorham disease were retrospectively analyzed by reviewing the eleven cases from our hospital and the cases reported in the domestic literature in the past fifty years. The diagnoses of all these 11 patients were in accordance with the diagnostic criteria established by Wells and Gray et al. All patients had X?ray plain film, four had CT scan and five had MR examination, with one had additional contrast?enhanced MR examination. Results There were 7 males and 4 females, age ranged from 16 to 66 years with a median age of 32 years. There were six cases involving hand, one involving ulnar and radial bones, one involving acetabulum and three involving jaw bones. The main clinical manifestations were pain, swelling, limited activity, and focal muscular atrophy occurred in 7 cases. On X?ray plain films, the affected bone became thin and the cortexes were not smooth and became coarse in 6 cases. Local lucent area was seen in 5 cases and massive bone absorption was seen in 6 cases. The residual bones showed a tapering appearance in 1 case. Pathological fracture occurred in 1 case. On CT scans, the affected bone became thin and the cortexes became coarse in 4 cases. Local lucent area was seen in 1 case. Massive bone absorption was seen in 3 cases. The adjacent muscular atrophy and widened intermuscular fat space occurred in 2 cases (atrophic bone absorption). On MRI, normal signal intensity of bone marrow disappeared and demonstrated low signal on T1WI and high signal on T2WI. The signal could be homogeneous or heterogeneous. There were widespread strip and patchy high signal areas in the soft tissue around the absorption areas in 4 cases, which resembled the edema?like signal. In 1 case, there was irregular widespread soft tissue mass around the absorption areas with heterogeneous high signal on T2WI. The adjacent muscle showed atrophy, and the intermuscular fat space became wide. There were a total of 92 cases reported cases in the literature including our 11 cases. There were 63 males and 29 females. The onset age ranged from 10 to 40 years in 66/92(72%)cases. The lesion affected one bone in 24 cases, affected two or more bones in 68 cases, out of which 9 cases had single center distribution, 59 cases had multiple centers distribution. Pectoral girdle, pelvis, maxillofacial bones, and hand were the most common sites of involvement in decreasing order. Forty three cases had muscle atrophy and 8 cases had soft tissue mass. Conclusion Gorham disease should be considered when atrophic bone absorption in one bone or continuous bones occurs that does not match clinical symptoms, with soft tissue atrophy but no bone sclerosis or periosteal reaction in the osteolytic areas.

Pamidronate Treatment in 9-Year-Old Boy Diagnosed with Gorham Disease / 대한소아내분비학회지

Gorham disease is a rare disorder characterized by proliferation of vascular channels resulting in destruction and resorption of osseous matrix. There is no standard treatment defined for this disease, and variable therapies such as medical, surgical, and radiation therapy have been used. Antiresorptive medication, such as bisphosphonate, is used in Gorham disease because they suppress the course of osteolysis and angiogenisis. We report a 9-year-old boy with Gorham disease, who was presented with recurrent hemothorax and treated by pamidronate. After treatment, he showed no recurrence of hemothorax for more than 2 years.

Síndrome de Gorham-Stout: doença do osso fantasma / Gorham-Stout syndrome: phantom bone disease

A síndrome de Gorham-Stout é uma doença que apresenta osteólise idiopática de um osso ou área contígua próxima. A etiologia é desconhecida, sendo uma condição rara, de difícil diagnóstico e tratamento controverso. Acomete pessoas sem distinção quanto à idade e ao sexo. Neste trabalho realizamos uma revisão bibliográfica da doença, dando enfoque específico no diagnóstico diferencial, e demonstramos o acompanhamento de um paciente com esta síndrome, desde o seu diagnóstico, tratamento e estado atual de evolução.

Gorham-stout syndrome is a disease that presents idiopathic osteolysis of a bone or contiguous area. The etiology is unknown. It is a rare condition, difficult to diagnose and with controversial treatment. This condition affects persons with no distinction as to age or sex. In this study, we conduct a bibliographic review of the disease, specifically focusing on differential diagnosis, and follow a patient with this syndrome from the time of its diagnosis, through treatment, to its current state of evolution.

Imaging diagnosis of massive osteolysis (areportof 4cases) / 中华放射学杂志

Objective Toevaluatetheradiologicfindingsanditsclinicaluseinmassiveosteolysis (MOL) .Methods FourcasesofMOLwereretrospectivelyanalyzed .X rayexaminationwasperformedinfour, CTintwo ,andMRIinone .Results (1 )Singleskeletallesionwasdemonstratedinthreecases ,andmultiple lesionsinone .(2 )OnX ray ,tubebonelesionwasshowedastaperingintwo ,butbonedefectorbone disappearingwasfoundintheflatbonedisease .Onecasealsoassociatedwithchylothorax .(3)OnCT ,flatbone lesionhadataperingmargin ,riblesionswereshowedasflattenandirregularsurfacewithcorticalorsubcortical bonedefect.Surroundingsofttissueofskeletallesionswasatrophy .(4)NormalMRIsignalintensityofbone marrowdisappearedintwoskeletallesionsandhadalongT1andlongT2 signalintensitychanges .Conclusion X rayexaminationistheessentialmethodforMOL ,CTandMRIarecomplementaryone .