Atypical imaging features of multiple sclerosis lesions include size >2 cm, mass effect, oedema and/or ring enhancement. This constellation is often referred to as 'tumefactive multiple sclerosis'. Previous series emphasize their unifocal and clinically isolated nature, however, evolution of these lesions is not well defined. Biopsy may be required for diagnosis. We describe clinical and radiographic features in 168 patients with biopsy confirmed CNS inflammatory demyelinating disease (IDD). Lesions were analysed on pre- and post-biopsy magnetic resonance imaging (MRI) for location, size, mass effect/oedema, enhancement, multifocality and fulfilment of Barkhof criteria. Clinical data were correlated to MRI. Female to male ratio was 1.2: 1, median age at onset, 37 years, duration between symptom onset and biopsy, 7.1 weeks and total disease duration, 3.9 years. Clinical course prior to biopsy was a first neurological event in 61%, relapsing-remitting in 29% and progressive in 4%. Presentations were typically polysymptomatic, with motor, cognitive and sensory symptoms predominating. Aphasia, agnosia, seizures and visual field defects were observed. At follow-up, 70% developed definite multiple sclerosis, and 14% had an isolated demyelinating syndrome. Median time to second attack was 4.8 years, and median EDSS at follow-up was 3.0. Multiple lesions were present in 70% on pre-biopsy MRI, and in 83% by last MRI, with Barkhof criteria fulfilled in 46% prior to biopsy and 55% by follow-up. Only 17% of cases remained unifocal. Median largest lesion size on T2-weighted images was 4 cm (range 0.5-12), with a discernible size of 2.1 cm (range 0.5-7.5). Biopsied lesions demonstrated mass effect in 45% and oedema in 77%. A strong association was found between lesion size, and presence of mass effect and/or oedema (P < 0.001). Ring enhancement was frequent. Most tumefactive features did not correlate with gender, course or diagnosis. Although lesion size >5 cm was associated with a slightly higher EDSS at last follow-up, long-term prognosis in patients with disease duration >10 years was better (EDSS 1.5) compared with a population-based multiple sclerosis cohort matched for disease duration (EDSS 3.5; P < 0.001). Given the retrospective nature of the study, the precise reason for biopsy could not always be determined. This study underscores the diagnostically challenging nature of CNS IDDs that present with atypical clinical or radiographic features. Most have multifocal disease at onset, and develop RRMS by follow-up. Although increased awareness of this broad spectrum may obviate need for biopsy in many circumstances, an important role for diagnostic brain biopsy may be required in some cases.

Made available in DSpace on 2015-06-26T13:08:44Z (GMT). No. of bitstreams: 2 stella_aparecida_iff_mest_2013.pdf: 2260165 bytes, checksum: eb12d331363220960351de6e8f16c16d (MD5) license.txt: 1748 bytes, checksum: 8a4605be74aa9ea9d79846c1fba20a33 (MD5) Previous issue date: 2013 / Fundação Oswaldo Cruz. Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira. Departamento de Ensino. Programa de Pós-Graduação em Saúde da Criança e da Mulher. Rio de Janeiro, RJ, Brasil. / As lesões tumefativas desmielinizantes (LTD) do SNC apresentam extrema dificuldade diagnóstica em virtude da similaridade clínica e radiológica com outras entidades nosológicas, incluindo doenças neoplásicas, inflamatórias e infecciosas. Frequentemente, o caráter indefinido das lesões aponta para a necessidade de biópsia cerebral com alto risco de morbidade. Portanto, o reconhecimento das características neurorradiológicas da LTD é fundamental para evitar a utilização de procedimentos invasivos. Na prática clínica, os exemplos das formas tumefativas não tumorais são os seguintes: esclerose múltipla (EM), neuromielite óptica (NMO), doença de Schilder e encefalomielite agudadisseminada (ADEM).Objetivo e Métodos: Analisar, através de revisão sistemática da literatura, quais ferramentas diagnósticas clínicas, radiológicas e laboratoriais são utilizadas pelos autores na investigação da etiologia das LTDs do SNC na infância.Resultados: As doenças desmielinizantes encontradas foram as seguintes: EM em 36% dos casos; LTD, sem classificação específica, em 27%; ADEM 17%;doença de Schilder 13 % e NMO 7%. De todos os casos estudados, em 45% houve recorrência de eventos desmielinizantes. Não há protocolo definido em relação aos tipos de exame solicitados nem a sequência apropriada ou oportunidade de indicá-los. Os exames mais realizados pelos autores foram os seguintes: RM de crânio, exame histopatológico, pesquisa de bandas oligoclonais e índice de IgG no líquor, RM de coluna e pesquisa de anticorpo antiaquaporina 4. Conclusão: A análise da literatura mostra que os dados mais relevantes para se definir o diagnóstico das LTDs são obtidos através da história e evolução clínica dos pacientes, e exames de neuroimagem; é fundamental que pacientes portadores de LTD sejam acompanhados a médio/longo prazo na tentativa de aumentar as possibilidades diagnósticas; não existe protocolo universal de abordagem das LTDs; há necessidade incondicional de implementação de fluxo de procedimentos capazes de orientar o diagnóstico das LTDs na infância e adolescência. / Introduction: The tumefactive demyelinating lesions (TDL) of the CNS have extremely difficult diagnosis due to the clinical and radiological similarity with other nosological entities, including neoplastic, inflammatory and infectious diseases. Commonly, the undefined character of the lesions points to the need of brain biopsy with high risk of morbidity. Thus, the recognition of neuroradiological characteristics of the TDL is critical to avoid the use of invasive procedures. In the clinical practice, the examples of the non tumorous forms of tumefactive lesions are the following: multiple sclerosis (MS), optic neuromyelitis (ONM), Schilder`s disease and acute disseminated encephalomyelitis (ADEM). Objective and Methods: Analysis, through the systematic review of the literature, which clinic, radiological and laboratorial diagnostic tools are used by the authors in the investigation of the etiology of the TDL`s of the CNS in the childhood. Results: The following demyelinating diseases have been found: MS in 36% of the cases; TDL without a specific classification in 27%; ADEM 17%;Schilder`s disease 13 % and ONM 7%. Considering all the cases studied, in 45% had recurrence of demyelinating events. There is no defined protocol with respect to the types with medical exams requested neither the appropriate sequence or the opportunity of indicate them. The medical exams more conducted by the authors were the following: MRI of skull,histopathological exam, research of oligoclonal bands and IgGindex in the liquor, MRI of spine and research of anti-aquaporin-4 antibody. Conclusion: The analysis of the literature shows that the most relevant data to define the diagnosis of the TDLs are obtained through the history and clinical evolution of the patients and neuroimaging tests.It is critical that the patients with TDL be accompanied over the medium/long term in an attempt of increase the diagnostic possibilities; there is not an universal protocol of approach of the TDL; there is unconditional necessity of implementation of flow of procedures able to guide the diagnosis of the TDLs in the childhood and adolescence.