Síndrome POEMS: um diagnóstico desafiador / POEMS Syndrome: a challenging diagnosis

A síndrome POEMS é um distúrbio multissistêmico. Sua patogênese não está totalmente estabelecida, mas sabe-se que tem relação com fator de crescimento vascular endotelial, interleucinas e fator de necrose tumoral alfa. A idade média de incidência é 50 anos, com maior prevalência em homens. Neuropatia periférica e gamopatia monoclonal estão presentes em todos os pacientes e são consideradas critérios maiores; quando associadas a pelo menos um critério menor, estabelecem diagnóstico da síndrome. As opções de tratamento são radioterapia, corticosteroides e quimioterapia, além de transplante autólogo de células-tronco hematopoiéticas. (AU)

POEMS syndrome is a multisystem disorder. Its pathogenesis isn't fully established, but it is known to be related to endothelial vascular growth factor, interleukins, and tumoral necrosis factor alpha (TNF-α). The mean age at incidence is 50 years, with a higher prevalence in men. Peripheral neuropathy and monoclonal gammopathy are present in all patients, and are considered major criteria; when associated with at least one minor criterium, they establish the diagnosis of the syndrome. Treatment options are radiotherapy, corticosteroids, chemotherapy, as well as autologous hematopoietic stem cell transplantation. (AU)

Otoesclerosis: revisión de aspectos etiopatogénicos, clínico-demográficos e imagenológicos / Otosclerosis: a review of aetiopathogenic, clinical-demographic and imaging aspects

Abstract. Otosclerosis is a common cause of progressive hearing loss in the young adult population. Most of the time the diagnosis is suspected based on consistent clinical symptoms and physical examination. The role of imaging in this pathology consists of confirmation of doubtful cases, ruling out by differential diagnoses, level of affection, and the pre-postoperative evaluation of patients. High-resolution computed tomography of the temporal bone is the imaging method of choice.

Resumen. La otoesclerosis corresponde a una causa común de hipoacusia progresiva en población adulta joven. La mayoría de las veces el diagnóstico es sospechado en base a un cuadro clínico y examen físico concordantes. El rol de las imágenes en esta enfermedad consiste en la confirmación de los casos dudosos, el descarte de diagnósticos diferenciales, la graduación del compromiso y la evaluación pre- y posquirúrgica de los pacientes. La tomografía computada de alta resolución del hueso temporal es el método de estudio imagenológico de elección.

Osteopetrosis: reporte de un caso en paciente de 20 años / Osteopetrosis: a case report in a 20 years old patient

Introducción: El concepto de Osteopetrosis agrupa un conjunto de enfermedades óseas caracterizadas por aumento de la densidad ósea, debido a una disfunción osteoclástica. Esto determina una insuficiente resorción ósea, provocando un aumento en la densidad ósea, osteoesclerosis generalizada, disminución de la resistencia ósea e incluso supresión de la médula ósea. Presentación del caso: Paciente de sexo masculino, de 20 años de edad, antecedentes de consanguinidad, con diagnóstico de osteopetrosis. Se destacan hidrocefalia, retraso del desarrollo psicomotor, anopsia bilateral, fracturas reiteradas, osteomielitis maxilar bilateral crónica e hipoplasia medular. Consulta frecuentemente por episodios reiterados de diátesis hemorrágica (epistaxis y gingivorragia). Radiografías revelan aumento de la densidad ósea, deformidades y esclerosis ósea difusa. Discusión: Llama la atención la prolongada sobrevivencia de este paciente, mantenido con transfusiones de eritrocitos y plaquetas frente a cada episodio hemorragíparo. Conclusiones: El diagnóstico precoz y tratamiento oportuno evitarán alteraciones irreversibles, optimizando la calidad de vida de los pacientes y sus familias.

Introduction: Osteopetrosis refers to a group of bone diseases characterized by increased bone density due to osteoclast dysfunction. This leads to insufficient bone resorption, leading to increased bone density, generalized osteosclerosis, decreased bone strength and even bone marrow suppression. Case report: Man 20 years old, history of consanguinity, diagnosticated with osteopetrosis. Stands out hydrocephalus, psychomotor developmental delay, bilateral anopsia, repeated fractures, chronic bilateral maxillary osteomyelitis, and bone marrow hypoplasia. Frequently consult by repeated episodes of hemorrhagic diathesis (epistaxis and gingivorrhagia). X-rays revealed increased bone density, bone deformities and diffuse osteosclerosis. Discussion: Calls the attention the prolonged survival of this patient, maintained with red cell and platelets transfusions after each bleeding episode. Conclusions: Early diagnosis and prompt treatment prevent irreversible damage, optimizing quality of life of patients and their families.

Prevalence of radiological findings among cases of severe secondary hyperparathyroidism / Prevalência de achados radiológicos em pacientes com grave hiperparatireoidismo secundário

CONTEXT AND OBJECTIVE: Patients with end stage renal disease (ESRD) and secondary hyperparathyroidism (HPT2) are prone to develop heterotopic calcifications and severe bone disease. Determination of the sites most commonly affected would decrease costs and patients' exposure to X-ray radiation. The aim here was to determine which skeletal sites produce most radiographic findings, in order to evaluate hemodialysis patients with HPT2, and to describe the most prevalent radiographic findings. DESIGN AND SETTING: This study was cross-sectional, conducted in one center, the Hospital Universitário Clementino Fraga Filho (HUCFF), in Rio de Janeiro, Brazil. METHODS: Whole-body radiographs were obtained from 73 chronic hemodialysis patients with indications for parathyroidectomy due to severe HPT2. The regions studied were the skull, hands, wrists, clavicles, thoracic and lumbar column, long bones and pelvis. All the radiographs were analyzed by the same two radiologists, with great experience in bone disease interpretation. RESULTS: The most common abnormality was subperiosteal bone resorption, mostly at the phalanges and distal clavicles (94 percent of patients, each). "Rugger jersey spine" sign was found in 27 percent. Pathological fractures and deformities were seen in 27 percent and 33 percent, respectively. Calcifications were presented in 80 percent, mostly at the forearm fistula (42 percent), abdominal aorta and lower limb arteries (35 percent each). Brown tumors were present in 37 percent of the patients, mostly on the face and lower limbs (9 percent each). CONCLUSION: The greatest prevalence of bone findings were found on radiographs of the hands, wrists, lateral view of the thoracic and lumbar columns and femurs. The most prevalent findings were bone resorption and ectopic calcifications.

CONTEXTO E OBJETIVO: Pacientes com hiperparatireoidismo secundário (HPT2) à insuficiência renal crônica são propensos a desenvolver calcificações ectópicas e grave doença óssea. A determinação dos sítios mais revelantes pode diminuir o custo e a exposição do paciente a radiação desnecessária. O objetivo foi determinar quais locais radiológicos apresentam mais achados radiográficos para avaliar o HPT2 em pacientes em hemodiálise, assim como os achados mais prevalentes. TIPO DE ESTUDO E LOCAL: Estudo transversal, realizado no Hospital Universitário Clementino Fraga Filho (HUCFF), no Rio de Janeiro, Brasil. MÉTODOS: Radiografias de corpo inteiro foram obtidas de 73 pacientes em hemodiálise crônica que tiveram indicação de paratireoidectomia devido a HPT2 grave. As regiões estudadas foram crânio, mãos e punhos, clavículas, coluna torácica e lombar, ossos longos e pélvis. Todas as imagens foram analisadas pelos mesmos dois radiologistas, com grande experiência na interpretação de doenças do osso. RESULTADOS: A alteração mais comum foi reabsorção óssea subperiosteal, principalmente nas falanges distais e clavículas (ambos em 94 por cento de pacientes). Sinal de "rugger jersey" foi descoberto em 27 por cento. Fratura patológica e deformidades foram visualizadas em 27 por cento e 33 por cento, respectivamente. As calcificações foram encontradas em 80 por cento dos pacientes, principalmente na fístula de antebraço (42 por cento), aorta abdominal e artérias dos membros inferiores (ambos 35 por cento). Tumores marrons estavam presentes em 37 por cento dos pacientes, principalmente na face e nos membros inferiores (ambos 9 por cento). CONCLUSÃO: As radiografias com achados mais prevalentes foram mãos e punhos, radiografia lateral da coluna torácica e lombar e fêmur. Os achados mais prevalentes foram reabsorção óssea e calcificação ectópica.

Garre's osteomyelitis: a case report.

Garre's Osteomyelitis is a distinctive type of chronic osteomyelitis associated with gross thickening of the periosteum of the bones and peripheral reactive bone formation resulting from mild irritation or infections. The condition is seen exclusively in children or young adults. Mandible is more often affected than the maxilla. Clinically it manifests as bony hard, non-tender swelling which is slowly progressive and associated with painful carious tooth. In this article, a case report of a eight year old female is presented along with complete investigations and treatment.