A Case Report of Gorham-Stout Syndrome with Kyphoscoliosis / 罕见病研究

This article reported the treatment of Gorham Stout syndrome (GSS) with kyphoscoliosis. The patient was an 11-year-old male who was presented with kyphoscoliosis, first developed 4 years ago, accompanied by incomplete paralysis of both lower limbs. The syndrome worsened in the previous year. He had a history of chylothorax, ventilation dysfunction, and osteoporosis. The patient underwent skull traction in another hospital for 7 months, which was ineffective. Finally, he underwent posterior correction, internal fixation, and bone graft fusion (C4-T8) in our hospital. The postoperative clinical outcomes and the posterior correction were satisfactory, with significant improvement in incomplete paralysis of both lower limbs. This article aims to improve the understanding of GSS and provided reference for its diagnosis and treatment through a typical case report and review of previous literature.

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.

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

A Successfully Treated Case of Gorham-Stout Syndrome with Sternal Involvement

Gorham-Stout Syndrome (GSS) is a rare disease characterized by localized bone resorption. Any part of the skeleton may be affected; therefore, symptoms can vary depending on the site involved. Pathological analysis reveals lymphovascular proliferation and osteolysis in the affected lesion, but the etiology of the disease is poorly understood. When GSS occurs in the chest, chylothorax or respiratory failure may occur. Thus far, a standard treatment for GSS has not been established, and the prognosis remains unknown. The following case report describes a successfully treated case of GSS in a 16-year-old boy with an affected sternum and ribs.

A Case of an Idiopathic Massive Osteolysis with Skip Lesions

A patient with a 2-year history of pain in the left arm, and decreased strengths unrelieved by non-steroidal anti-inflammatory therapy, was being referred for repeating radiography. The radiologic examinations have demonstrated a unique pattern of non-contiguous osteolysis in the left elbow, proximal and distal radius, ulna, wrist, carpal bones, proximal and distal metacarpals and phalanges. Multi-site biopsies were being performed and confirmed the diagnosis of massive osteolysis. To our knowledge, this is the first case in which multifocal, non-contiguous osteolysis with skip lesions without associated nephropathy and without a hereditary pattern is being described in one extremity.