Neuroimaging Findings in Patients with Mucopolysaccharidosis: What You Really Need to Know.

Mucopolysaccharidosis (MPS) is an inherited metabolic disease and a member of the group of lysosomal storage disorders. Its hallmark is a deficiency of lysosomal enzymes involved in the degradation of mucopolysaccharides, also known as glycosaminoglycans (GAGs). The products of GAG degradation accumulate within lysosomes and in the extracellular space, thereby interfering with the degradation of other macromolecules. This process leads to chronic degeneration of cells, which in turn affects multiple organs and systems. There are seven distinct types of MPS (I, II, III, IV, VI, VII, and IX), which are divided into subtypes according to the deficient enzyme and the severity of the clinical picture. Although clinical manifestations vary considerably among the different types of MPS, the central nervous system (CNS) is characteristically affected, and magnetic resonance (MR) imaging is the method of choice to evaluate brain and spinal cord abnormalities. Enlarged perivascular spaces, white matter lesions, hydrocephalus, brain atrophy, cervical spinal canal stenosis with or without spinal cord compression and myelopathy, and bone abnormalities in the skull and spine (dysostosis multiplex) are typical imaging findings described in the literature and reviewed in this article. The differential diagnosis of MPS is limited because the constellation of imaging findings is highly suggestive. Thus, radiologists should be aware of its typical neuroimaging findings so they can recognize cases not yet diagnosed, exclude other metabolic diseases, monitor CNS findings over time, and assess treatment response. (©)RSNA, 2016.

A rare cause of postpartum seizure: Cerebral tuberculoma.

Tuberculomas are rare and a life-threatening condition. Diagnosis followed by appropriate treatment can lead to complete resolution of the disease. A suggestive imaging study in an appropriate clinical setting can lead to the diagnosis. We describe a case of a postpartum woman with a headache and seizure in which eclampsia was the initial suspicion. Imaging exams demonstrated a solitary expansile lesion in the left parietal lobe suspicious of neoplasia. A biopsy, instead, confirmed a tuberculoma. In addition to eclampsia, many other differential diagnoses are possible in the context of seizures in pregnant and peripartum patients, including central nervous system tuberculosis. Brain imaging studies can be crucial in the diagnostic process.

Central nervous system infection: imaging findings suggestive of a fungus as the cause.

Fungal infections of the central nervous system (CNS) are rare. However, because of the increase in the number of immunocompromised individuals, they have been gaining prominence in the differential diagnosis of CNS infections. Imaging techniques are sensitive for detecting and localizing an abnormality, in many cases allowing the origin of a lesion to be categorized as infectious, inflammatory, neoplastic, or vascular. This essay illustrates the magnetic resonance imaging and computed tomography findings of the most common fungal infections of the CNS, based on the experience of the Radiology Department of the Hospital de Clínicas de Porto Alegre, in the city of Porto Alegre, RS, Brazil.

As infecções fúngicas do sistema nervoso central (SNC) são raras, entretanto, com o aumento no número de indivíduos imunocomprometidos elas têm ganhado destaque no diagnóstico diferencial de infecções no SNC. As atuais técnicas de imagem são sensíveis para detectar uma anormalidade, localizá-la, e em muitos casos categorizar a lesão como de origem infecciosa e/ou inflamatória, neoplásica ou vascular. Este ensaio ilustra os achados de ressonância magnética e tomografia computadorizada mais comuns nas infecções fúngicas do SNC baseadas na experiência do Serviço de Radiologia do Hospital de Clínicas de Porto Alegre.

Central nervous system infection: imaging findings suggestive of a fungus as the cause / Infecção do sistema nervoso central: os achados de imagem sugestivos de fungo como causa

Abstract Fungal infections of the central nervous system (CNS) are rare. However, because of the increase in the number of immunocompromised individuals, they have been gaining prominence in the differential diagnosis of CNS infections. Imaging techniques are sensitive for detecting and localizing an abnormality, in many cases allowing the origin of a lesion to be categorized as infectious, inflammatory, neoplastic, or vascular. This essay illustrates the magnetic resonance imaging and computed tomography findings of the most common fungal infections of the CNS, based on the experience of the Radiology Department of the Hospital de Clínicas de Porto Alegre, in the city of Porto Alegre, RS, Brazil.

Resumo As infecções fúngicas do sistema nervoso central (SNC) são raras, entretanto, com o aumento no número de indivíduos imunocomprometidos elas têm ganhado destaque no diagnóstico diferencial de infecções no SNC. As atuais técnicas de imagem são sensíveis para detectar uma anormalidade, localizá-la, e em muitos casos categorizar a lesão como de origem infecciosa e/ou inflamatória, neoplásica ou vascular. Este ensaio ilustra os achados de ressonância magnética e tomografia computadorizada mais comuns nas infecções fúngicas do SNC baseadas na experiência do Serviço de Radiologia do Hospital de Clínicas de Porto Alegre.

Rhombencephalitis: pictorial essay.

The term rhombencephalitis refers to inflammatory diseases affecting the hindbrain (brainstem and cerebellum). Rhombencephalitis has a wide variety of etiologies, including infections, autoimmune diseases, and paraneoplastic syndromes. Infection with bacteria of the genus Listeria is the most common cause of rhombencephalitis. Primary rhombencephalitis caused by infection with Listeria spp. occurs in healthy young adults. It usually has a biphasic time course with a flu-like syndrome, followed by brainstem dysfunction; 75% of patients have cerebrospinal fluid pleocytosis, and nearly 100% have an abnormal brain magnetic resonance imaging scan. However, other possible causes of rhombencephalitis must be borne in mind. In addition to the clinical aspects, the patterns seen in magnetic resonance imaging can be helpful in defining the possible cause. Some of the reported causes of rhombencephalitis are potentially severe and life threatening; therefore, an accurate initial diagnostic approach is important to establishing a proper early treatment regimen. This pictorial essay reviews the various causes of rhombencephalitis and the corresponding magnetic resonance imaging findings, by describing illustrative confirmed cases.

O termo rombencefalite se refere a doenças inflamatórias que afetam o rombencéfalo (tronco cerebral e cerebelo). Rombencefalites possuem grande variedade de causas, incluindo infecciosas, autoimunes e síndromes paraneoplásicas. Listeria é a causa mais comum das rombencefalites infecciosas. A rombencefalite primária por Listeria ocorre em adultos jovens e saudáveis, com um curso de tempo bifásico, como uma síndrome gripal acompanhada de disfunção do tronco cerebral. Em 75% dos pacientes manifesta-se pleiocitose no líquido cefalorraquidiano e em quase 100% a ressonância magnética cerebral é anormal. Mas há outras causas possíveis para rombencefalites que devem ser lembradas. Além de aspectos clínicos, os padrões de imagem encontrados na ressonância magnética podem ser úteis na definição da possível causa. Algumas das causas descritas de rombencefalites são potencialmente graves e fatais; assim, uma abordagem diagnóstica inicial precisa é importante para estabelecer um tratamento precoce adequado. Este ensaio iconográfico revisa as diversas causas de rombencefalites e os seus achados de ressonância magnética, por meio de casos ilustrativos confirmados.

Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.

OBJECTIVE: To describe survival and neurological outcomes after HSCT for these disorders. METHODS: Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated. RESULTS: Favorable outcomes were obtained with 4/5 related and 3/6 unrelated donors. Two patients died from procedure-related complications. Nine transplanted patients were alive after a median of 3.7 years: neurological stabilization was obtained in 5/6 CALD, 1/2 MLD, and one MPS-IH patient. Brain lesions of the MPS-IH patient were reduced four years after HSCT. CONCLUSION: Good outcomes were obtained when HSCT was performed before adulthood, early in the clinical course, and/or from a related donor.

The central vein sign in multiple sclerosis: a biomarker evaluated on a 3T MRI scanner

The central vein sign (CVS) is a promising MRI biomarker in multiple sclerosis (MS). CVS has recently been proposed to improve the accuracy and speed of MS diagnosis. Evidence indicates that the presence of CVS in individual lesions can accurately differentiate MS from other diseases that mimic this condition, such as hypertensive microangiopathy, atypical demyelination, and neuromyelitis optica. Most studies have used 7T MRI scanners, which limits their clinical applicability. Recently, it has been demonstrated that the fusion of the FLAIR and SWI sequences, generating FLAIR*, allows CVS visualization even on 3T scanners. Many studies have confirmed that CVS at 3T is a specific imaging finding for MS. (AU)

Rhombencephalitis: pictorial essay / Rombencefalites: ensaio iconográfico

Abstract The term rhombencephalitis refers to inflammatory diseases affecting the hindbrain (brainstem and cerebellum). Rhombencephalitis has a wide variety of etiologies, including infections, autoimmune diseases, and paraneoplastic syndromes. Infection with bacteria of the genus Listeria is the most common cause of rhombencephalitis. Primary rhombencephalitis caused by infection with Listeria spp. occurs in healthy young adults. It usually has a biphasic time course with a flu-like syndrome, followed by brainstem dysfunction; 75% of patients have cerebrospinal fluid pleocytosis, and nearly 100% have an abnormal brain magnetic resonance imaging scan. However, other possible causes of rhombencephalitis must be borne in mind. In addition to the clinical aspects, the patterns seen in magnetic resonance imaging can be helpful in defining the possible cause. Some of the reported causes of rhombencephalitis are potentially severe and life threatening; therefore, an accurate initial diagnostic approach is important to establishing a proper early treatment regimen. This pictorial essay reviews the various causes of rhombencephalitis and the corresponding magnetic resonance imaging findings, by describing illustrative confirmed cases.

Resumo O termo rombencefalite se refere a doenças inflamatórias que afetam o rombencéfalo (tronco cerebral e cerebelo). Rombencefalites possuem grande variedade de causas, incluindo infecciosas, autoimunes e síndromes paraneoplásicas. Listeria é a causa mais comum das rombencefalites infecciosas. A rombencefalite primária por Listeria ocorre em adultos jovens e saudáveis, com um curso de tempo bifásico, como uma síndrome gripal acompanhada de disfunção do tronco cerebral. Em 75% dos pacientes manifesta-se pleiocitose no líquido cefalorraquidiano e em quase 100% a ressonância magnética cerebral é anormal. Mas há outras causas possíveis para rombencefalites que devem ser lembradas. Além de aspectos clínicos, os padrões de imagem encontrados na ressonância magnética podem ser úteis na definição da possível causa. Algumas das causas descritas de rombencefalites são potencialmente graves e fatais; assim, uma abordagem diagnóstica inicial precisa é importante para estabelecer um tratamento precoce adequado. Este ensaio iconográfico revisa as diversas causas de rombencefalites e os seus achados de ressonância magnética, por meio de casos ilustrativos confirmados.

Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome / Desfechos neurológicos após transplante de células tronco hematopoiéticas na adrenoleucodistrofia ligada ao X, forma cerebral, na leucodistrofia metacromática de início tardio e na síndrome de Hurler

ABSTRACT Hematopoietic stem cell transplantation (HSCT) is the only available treatment for the neurological involvement of disorders such as late-onset metachromatic leukodystrophy (MLD), mucopolysaccharidosis type I-Hurler (MPS-IH), and X-linked cerebral adrenoleukodystrophy (CALD). Objective To describe survival and neurological outcomes after HSCT for these disorders. Methods Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated. Results Favorable outcomes were obtained with 4/5 related and 3/6 unrelated donors. Two patients died from procedure-related complications. Nine transplanted patients were alive after a median of 3.7 years: neurological stabilization was obtained in 5/6 CALD, 1/2 MLD, and one MPS-IH patient. Brain lesions of the MPS-IH patient were reduced four years after HSCT. Conclusion Good outcomes were obtained when HSCT was performed before adulthood, early in the clinical course, and/or from a related donor.

RESUMO O transplante de células tronco hematopoiéticas (TCTH) é o único tratamento disponível para o envolvimento neurológico de doenças como a leucodistrofia metacromática (MLD), a mucopolissacaridose tipo I-Hurler (MPS-IH) e a adrenoleucodistrofia (CALD). Objetivos Descrever a sobrevida e os desfechos neurológicos após o TCTH nessas doenças. Métodos Sete pacientes CALD, 2 MLD e 2 MPS-IH realizaram TCTH entre 2007 e 2014. Avaliações neurológicas, ressonância nuclear magnética e estudos bioquímicos e moleculares foram feitos no baseline e repetidos quando apropriado. Resultados Desfechos favoráveis foram obtidos em 4/5 TCTH de doadores relacionados e em 3/6 não relacionados. Dois pacientes faleceram de complicações do procedimento. Nove transplantados sobreviveram após uma mediana de 3,7 anos: estabilização neurológica foi obtida em 5/6 CALD, ½ MLD e em um caso MPS-IH. As lesões encefálicas de um caso MPS-IH reduziram-se quatro anos após o TCTH. Conclusão Bons desfechos foram obtidos quando o TCTH foi feito antes da vida adulta, cedo no curso clínico e/ou a partir de um doador relacionado.

Sobrevida de pacientes submetidos a transplante alogênico de medula óssea / Survival of patients submittes to allogeneic boné marrow transplantation

Introdução: O transplante de células-tronco hematopoiéticas (TCTH) alogênico é um procedimento que oferece um potencial de cura para doenças hematológicas malignas e benignas. O benefício da técnica está especialmente relacionado ao aumento da sobrevida em pacientes com doadores HLA-compatíveis em cujos casos o tratamento quimioterápico mostrou-se insuficiente ou ineficaz. Objetivos: Analisar a sobrevida de pacientes que receberam TCTH alogênico aparentado no Serviço de Hematologia Clínica e Transplante de Medula Óssea (SHCTMO) do Hospital de Clínicas de Porto Alegre (HCPA). Métodos: Estudo de coorte prospectiva com análise de sobrevida de pacientes transplantados entre 1994 e 2003. Resultados: Foram analisados 133 pacientes com idade média de 30,8±14,8 anos com um tempo médio de 26,8 meses entre o diagnóstico e o TCTH. Cinco anos após o transplante, 71 pacientes (53,4%) estavam vivos, 22 pacientes tinham leucemia mieloide aguda (LMA), 54, leucemia mieloide crônica (LMC), e seis padeciam de síndrome mielodisplásica (SMD), sendo que, em 5 anos, a sobrevida foi de 52, 50 e 33%, respectivamente. Dos 26 pacientes transplantados por anemia aplásica (AA), 66,7% tinham idade inferior a 20 anos, e 61,5% dos que tinham mais de 20 anos estavam vivos. Conclusão: Embora, no nosso estudo, o tempo médio entre o diagnóstico e o transplante tenha sido superior a 2 anos, e embora nossa análise tenha sido apenas estratificada pelo tipo da doença, independentemente do regime de condicionamento ou da fase da doença no momento do TCTH, nossos resultados são superponíveis aos descritos na literatura mundial.

Background: Hematopoietic stem cell transplantation (HSCT) represents a curative alternative for malignant and benign hematological diseases. The benefits of the technique are especially related to an increase in the survival of patients with HLA-compatible hematopoietic stem cell donors when chemotherapy or clinical therapy has resulted ineffective. Objectives: To analyze the survival of patients submitted to allogeneic HSCT at the Hematology and Bone Marrow Transplant Service of Hospital de Clínicas de Porto Alegre. Methods: A prospective cohort of all patients submitted to transplantation between 1994 and 2003 was analyzed for overall survival. Results: A total of 133 patients were submitted to transplantation in the study period, with a mean age of 30.8±14.8 years; mean time elapsed between diagnosis and transplant was 26.8 months. Five years after the procedure, 71 patients (53.4%) were alive, 22 patients had acute and 54 had chronic myeloid leukemia, and six patients presented myelodysplastic syndrome; the 5 year overall survival was 52, 50, and 33%, respectively. Of the 26 patients transplanted for aplastic anemia, 66.7% had 20 or less years of age, and 61.5% of the patients older than 20 years were alive. Conclusion: Although the mean time elapsed between diagnosis and transplantation was over 2 years and although our results were stratified by type of disease only, the findings herein reported are similar to those found in the literature, independently of conditioning regimen or disease stage at the time of transplant.