Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study.

BACKGROUND: Spinal cord damage is a feature of many spinocerebellar ataxias (SCAs), but well-powered in vivo studies are lacking and links with disease severity and progression remain unclear. Here we characterise cervical spinal cord morphometric abnormalities in SCA1, SCA2, SCA3 and SCA6 using a large multisite MRI dataset. METHODS: Upper spinal cord (vertebrae C1-C4) cross-sectional area (CSA) and eccentricity (flattening) were assessed using MRI data from nine sites within the ENIGMA-Ataxia consortium, including 364 people with ataxic SCA, 56 individuals with preataxic SCA and 394 nonataxic controls. Correlations and subgroup analyses within the SCA cohorts were undertaken based on disease duration and ataxia severity. RESULTS: Individuals in the ataxic stage of SCA1, SCA2 and SCA3, relative to non-ataxic controls, had significantly reduced CSA and increased eccentricity at all examined levels. CSA showed large effect sizes (d>2.0) and correlated with ataxia severity (r<-0.43) and disease duration (r<-0.21). Eccentricity correlated only with ataxia severity in SCA2 (r=0.28). No significant spinal cord differences were evident in SCA6. In preataxic individuals, CSA was significantly reduced in SCA2 (d=1.6) and SCA3 (d=1.7), and the SCA2 group also showed increased eccentricity (d=1.1) relative to nonataxic controls. Subgroup analyses confirmed that CSA and eccentricity are abnormal in early disease stages in SCA1, SCA2 and SCA3. CSA declined with disease progression in all, whereas eccentricity progressed only in SCA2. CONCLUSIONS: Spinal cord abnormalities are an early and progressive feature of SCA1, SCA2 and SCA3, but not SCA6, which can be captured using quantitative MRI.

Massive calcification in a pleomorphic adenoma: report of an unusual presentation.

We report a case of histology-proven pleomorphic adenoma of the parapharyngeal space in a 20-year-old man. This case was unusual in that a massive amount of dystrophic calcification was scattered throughout the tumor. The patient underwent successful surgical resection, and he exhibited no signs of recurrence during follow-up. Literature about such an unusual presentation is scarce.

Tomografia computadorizada de alta resolução nas complicações pulmonares pós-transplante de medula óssea: ensaio iconográfico / High-resolution computed tomography findings in pulmonary complications after bone marrow transplantation: iconographic essay

O transplante de medula óssea (TMO) tem sido utilizado como tratamento de escolha para diversas doenças hematológicas. Entretanto, as complicações pulmonares, que podem ocorrer em até 60 por cento dos pacientes, são o principal motivo de falha no tratamento. As complicações pulmonares pós-TMO podem ser divididas em três fases, de acordo com a imunidade do paciente. Na primeira fase, até 30 dias após o procedimento, predominam as complicações não infecciosas e as pneumonias fúngicas. Na fase precoce, que vai até o 100º dia pós-TMO, as infecções virais, principalmente por citomegalovírus, são mais comuns. Finalmente, na fase tardia pós-TMO, complicações não infecciosas como bronquiolite obliterante com pneumonia em organização e doença do enxerto contra o hospedeiro são mais comumente observadas. Os autores apresentam um ensaio iconográfico, enfatizando os aspectos de tomografia de alta resolução em pacientes com complicações pulmonares pós-TMO.

Bone marrow transplantation has been the treatment of choice for many hematologic diseases. However, pulmonary complications, which may occur in up to 60% of the patients, are the main cause of treatment failure and may be divided in three phases according to the patient's immunity. In the first phase, up to 30 days after the procedure, there is a predominance of non-infectious complications and fungal pneumonia. Viral infections, mainly by cytomegalovirus, are common in the second phase (up to 100 days after bone marrow transplantation). Finally, in the late phase after bone marrow transplantation, non-infectious complications as bronchiolitis obliterans organizing pneumonia and graft-versus-host disease are most commonly seen. The authors present a pictorial essay of the high-resolution computed tomography findings in patients with pulmonary complications after bone marrow transplantation.

Esclerose sistêmica progressiva: aspectos na tomografia computadorizada de alta resolução / Progressive systemic sclerosis: high-resolution computed tomography findings

OBJETIVO: Descrever os achados de tomografia computadorizada de alta resolução de pacientes com esclerose sistêmica pulmonar, independentemente dos sintomas respiratórios. MATERIAIS E MÉTODOS: Foram revisados 73 exames de tomografia computadorizada de alta resolução de 44 pacientes com diagnóstico de esclerodermia estabelecido através de critérios clínicos e laboratoriais. Os exames foram revisados por dois radiologistas, que estabeleceram os achados por consenso. RESULTADOS: Em 91,8 por cento (n = 67) dos exames observaram-se alterações. Os principais achados foram lesões de padrão reticular (90,4 por cento), opacidades em vidro-fosco (63 por cento), bronquiectasias e bronquiolectasias de tração (56,2 por cento), dilatação esofagiana (46,6 por cento), faveolamento (28,8 por cento) e sinais de hipertensão pulmonar (15,6 por cento). Na maioria dos casos as lesões eram bilaterais (89 por cento) e simétricas (58,5 por cento). Quanto à localização, houve predomínio de lesões basais (91,2 por cento) e periféricas (92,2 por cento). CONCLUSÃO: A esclerose sistêmica progressiva acarreta fibrose pulmonar na maioria dos pacientes, caracterizada principalmente por lesão reticular basal e periférica.

OBJECTIVE: To describe the high-resolution computed tomography findings in the lung of patients with systemic sclerosis, independently of the respiratory symptoms. MATERIALS AND METHODS: Seventy-three high-resolution computed tomography scans of 44 patients with clinical diagnosis of systemic sclerosis were reviewed and defined by the consensus of two radiologists. RESULTS: Abnormalities were seen in 91.8% (n = 67) of the scans. The most frequent findings were reticular pattern (90.4%), ground-glass opacities (63%), traction bronchiectasis and bronchiolectasis (56.2%), esophageal dilatation (46.6%), honeycombing pattern (28.8%) and signs of pulmonary hypertension (15.6%). In most cases the lesions were bilateral (89%) and symmetrical (58.5%). The lesions were predominantly located in the basal (91.2%) and peripheral (92.2%) regions. CONCLUSION: In the majority of the patients, progressive systemic sclerosis can cause pulmonary fibrosis mainly characterized by reticular pattern with basal and peripheral distribution on high-resolution computed tomography.

Sarcoma fibromixóide de baixo grau da parede torácica: relato de caso / Low-grade fibromyxoid sarcoma of the chest wall: a case report

Este relato descreve um caso de sarcoma fibromixóide de baixo grau na parede torácica em uma paciente feminina de 23 anos de idade. A radiografia de tórax e a tomografia computadorizada demonstraram massa heterogênea na região inferior do hemitórax direito, com necrose e focos de calcificação. O exame histológico foi sugestivo de leiomioma, mas a imuno-histoquímica definiu o diagnóstico de sarcoma fibromixóide de baixo grau. A evolução clínica do caso foi boa, apesar dos aspectos de malignidade demonstrados na tomografia computadorizada.

We report the case of a 23-year-old female patient with a low-grade fibromyxoid sarcoma involving the chest wall. The chest radiography and computed tomography scan showed a heterogeneous mass in the lower right hemithorax, with necrosis and calcification foci. Histological examination was suggestive of a leiomyoma but the immunohistochemical study proved to be a low-grade fibromyxoid sarcoma. The clinical outcome of this patient was good, although the computed tomography scan showed signs of malignancy.

Calcificações intracranianas maciças em um paciente com lúpus eritematoso sistêmico / Massive intracranial calcifications in a patient with systemic lupus erythematosus

O envolvimento do sistema nervoso central em pacientes com lúpus eritematoso sistêmico é freqüentemente relatado. Os exames de tomografia computadorizada e ressonância magnética demonstram achados como atrofia cerebral, infarto cerebral e/ou hemorragia intracraniana. Calcificações intracranianas maciças em pacientes com lúpus eritematoso sistêmico são raras. Os autores apresentam um paciente com lúpus eritematoso sistêmico e crises convulsivas, cuja tomografia computadorizada demonstrou extensas calcificações nos gânglios da base e focos de calcificação nos lobos frontais. A ressonância magnética revelou imagens hiperintensas na seqüência FLAIR e hipointensas em gradiente eco T2* na topografia dos gânglios da base.

Adult cerebellar medulloblastoma: CT and MRI findings in eight cases.

Medulloblastoma is a brain tumor of neuroepithelial origin, which represents 15 to 30% of all pediatric brain tumors, and less than 1% of CNS adult neoplasms. We report the imaging findings of 8 adult patients with medulloblastoma. The mean age was 35 years, ranging from 20 to 65 years, and the male:female rate was 3:5. The tumors were predominantly lateral (63%), hyperdense on CT scans (83%), and on the MRI, hypointense on T1 (100%) and hyperintense on T2 (80%) weighted images. It was seen intratumoral necrosis and cysts in six cases and calcifications in three. Hydrocephalus was observed in 5 cases and brain stem invasion in four. The imaging findings of medulloblastomas in adults are different of those in child, and also nonspecific. Although these tumors are uncommon in adults, they must be considered in the differential diagnosis of cerebellar masses in the posterior fossa of this age group.

Adult cerebellar medulloblastoma: CT and MRI findings in eight cases

Medulloblastoma is a brain tumor of neuroepithelial origin, which represents 15 to 30 percent of all pediatric brain tumors, and less than 1 percent of CNS adult neoplasms. We report the imaging findings of 8 adult patients with medulloblastoma. The mean age was 35 years, ranging from 20 to 65 years, and the male:female rate was 3:5. The tumors were predominantly lateral (63 percent), hyperdense on CT scans (83 percent), and on the MRI, hypointense on T1 (100 percent) and hyperintense on T2 (80 percent) weighted images. It was seen intratumoral necrosis and cysts in six cases and calcifications in three. Hydrocephalus was observed in 5 cases and brain stem invasion in four. The imaging findings of medulloblastomas in adults are different of those in child, and also nonspecific. Although these tumors are uncommon in adults, they must be considered in the differential diagnosis of cerebellar masses in the posterior fossa of this age group