Isolated Central Nervous System Vasculitis as a Manifestation of Neurosarcoidosis.

A 62-year-old male presented to our clinic with recurrent fever, skin lesions (petechiae), scleral wounds, and hilar adenomegaly. A diagnosis of sarcoidosis was established, which resolved with corticosteroid treatment. After a few months, the patient developed confusion and behavioral changes, with few objective neurological deficits. Brain magnetic resonance imaging showed slight focal meningeal enhancement (prepontine region). The level of angiotensin-converting enzymes was normal in the serum and increased in the cerebrospinal fluid. The patient was diagnosed with neurosarcoidosis, and corticosteroid treatment was prescribed, yielding good clinical response. Nine months later, the patient presented with multiple ischemic strokes, and arteriography demonstrated multiple distal irregularities in all arterial territories, suggesting cerebral vasculitis. Even with corticosteroids, cyclophosphamide, and intravenous immunoglobulin, the patient died. Vasculitis is rarely seen in association with sarcoidosis, and in this case, no systemic manifestation was observed at the time that the patient developed vasculitis.

Neuroimaging in Hereditary Spastic Paraplegias: Current Use and Future Perspectives.

Hereditary spastic paraplegias (HSP) are a large group of genetic diseases characterized by progressive degeneration of the long tracts of the spinal cord, namely the corticospinal tracts and dorsal columns. Genotypic and phenotypic heterogeneity is a hallmark of this group of diseases, which makes proper diagnosis and management often challenging. In this scenario, magnetic resonance imaging (MRI) emerges as a valuable tool to assist in the exclusion of mimicking disorders and in the detailed phenotypic characterization. Some neuroradiological signs have been reported in specific subtypes of HSP and are therefore helpful to guide genetic testing/interpretation. In addition, advanced MRI techniques enable detection of subtle structural abnormalities not visible on routine scans in the spinal cord and brain of subjects with HSP. In particular, quantitative spinal cord morphometry and diffusion tensor imaging look promising tools to uncover the pathophysiology and to track progression of these diseases. In the current review article, we discuss the current use and future perspectives of MRI in the context of HSP.

Frontal functions in depressed and nondepressed Parkinson's disease patients: impact of severity stages.

Severity of Parkinson's disease (PD) and frontal impairment are positively correlated. Testing frontal functions in depressed/nondepressed PD patients with different severity stages may reveal whether depression leads to this impairment. We aimed to relate severity of PD to frontal functional impairment and to test if negative stimuli/depressive symptoms interfered with frontal tasks. The Stroop test and the Emotional Stroop test were performed by 46 PD patients, 18 of whom were depressed. The Hoehn and Yahr scale assessed severity of the disease. We calculated the difference in seconds for each Stroop card and the interference index (C/D) between depressed and nondepressed patients sharing the same severity of disease. The differences among the groups (depressed and nondepressed) according to the severity of the disease (mild and moderate) were compared using the Mann-Whitney test. The depressed patients had a poorer performance on the test than the nondepressed PD patients, although the difference was not statistically significant. In conclusion, there is a clinically relevant but not statistically significant difference on the performance of frontal tasks between depressed and nondepressed PD patients. Neither depression nor the severity of the disease were determinant to the poorer performance on the Stroop and the Emotional Stroop tests.

[Psychotic syndrome developing into dementia as a clinical manifestation of mitochondrial DNA deletion]. / Síndrome psicótica evoluindo com demência como manifestação clinica de deleção do DNA mitocondrial.

The manifestations of mitochondrial disease are variable, affecting more frequently the organs with high aerobic metabolism in which they are more abundant, for example the nervous system. The beginning of symptoms in general is observed at childhood, but some patients presented on adult age. We present an atypical case associated with mitochondrial DNA deletion. A 39-years-old man with psychiatric symptoms that configured initial clinical picture and only after 12 years of the beginning of symptoms neurological alterations became noticeable. The diagnosis of mitochondrial illness was confirmed by muscle biopsy being documented mitochondrial DNA deletion.

Parkinson's disease dementia: Diagnostic criteria and risk factor review.

Cognitive impairment in Parkinson's disease (PD) greatly affects the morbidity and mortality rates of the disease and can be present as mild executive dysfunction even in the early stages. In advanced PD, the prevalence of dementia (PDD) reaches more than 80%. The Movement Disorders Society (MDS) has proposed diagnostic criteria for PDD and Mild Cognitive Impairment (MCI) in PD, raising the sensibility and specificity of those diagnoses compared with DSM IV, for example. Cognition impairment is an important issue to determine in PD because of therapeutic, epidemiologic, and prognostic factors. These guidelines should be applied to a diagnosis of PD-MCI and PDD as soon as possible in order to provide a correct diagnosis. Another important topic to discuss regarding cognition in PD is which patient would be more likely to develop PDD. There are some risk factors for cognitive impairment in PD with cumulative risk. Important risk factors related to PDD are age, time of diagnosis, rigid-akinetic phenotype, severe impairment, impairment of semantic fluency, genetic factors, low education level, and postural instability. Recognizing them is also important for early diagnosis. We discuss the diagnostic criteria of PD cognitive impairment and some aspects of risk factors related to it in this review.

[Myelopathy due to vitamin B12 deficiency presenting as transverse myelitis]. / Mielopatia por deficiência de vitamina B12 apresentando-se como mielite transversa.

Vitamin B12 deficiency may induce neuropathy, myelopathy, dementia and optic neuropathy. The diagnosis is established by vitamin B12, homocysteine and methylmalonic acid measurements. Myelin and axon destruction in the white matter of the spinal cord are observed. The posterior column of the cervical and thoracic level is the most common involved area. The involvement of the anterior column is restricted to advanced and relatively severe cases. Treatment is based on vitamin B12 injections, and the prognosis depends on the stage of vitamin deficiency and deterioration at treatment onset. We report a case with transverse myelitis due to vitamin B12 deficiency. This picture is relatively uncommon, however, we believe patients with transverse myelitis should have vitamin B12 studies as part of the diagnosis work up.

Hoffman's syndrome: pseudohypertrophic myopathy as initial manifestation of hypothyroidism. Case report.

The frequency of myopathy in hypothyroidism ranges from 30 to 80%. The major symptoms related are weakness, muscular cramps and myalgia. The pseudohyperthrophic form is called Hoffman's syndrome. The electrophysiological study reveals myopathy, neuropathy or mixed pattern. Laboratorial investigation generally shows increased levels of muscle enzymes and low serum thyroid hormones, with thyrotrophic-stimulating hormone (TSH) elevated. The treatment consists in hormone replacement and the prognosis is good in most of the cases. We report an adult male who developed muscular cramps, myalgia, weakness, pseudohyperthrophy, associated with facial edema and alteration of his voice. The muscle enzymes were increased and T4 was undetectable with a raised level of TSH. The myopathy was the initial manifestation of hypothyroidism in this case.

Schwanoma gigante do VIII nervo craniano de evolução subaguda: relato de caso / Subacute evolution of giant schwannoma of VIII cranial nerve: case report

O schwanoma vestibular é uma neoplasia que se origina das células de Schwann da porção vestibular do VIII nervo craniano e que corres- ponde a cerca de 10% dos tumores intracranianos e a 80% a 90% daqueles localizados no ângulo pontocerebelar. Apesar do crescimento lento e evolução em geral benigna, estes tumores podem evoluir de maneira desfavorável devido à localização em compartimento anatômico relativamente reduzido no crânio (fossa posterior), o que pode levar a compressão de estruturas nobres (como o tronco encefálico) e a desenvolvimento de hidrocefalia obstrutiva, especialmente nos raros casos de schawanomas gigantes (> 40 mm). Apresentamos relato de caso de paciente com quadro de tinnitus e hipoacusia à esquerda que evoluiu de forma subaguda com alterações do humor, da cognição e da marcha cujo diagnóstico final foi de schwanoma gigante do VIII nervo craniano.

Vestibular schwannoma is a Schwann cells neoplasia of the vestibular branch of the VIII cranial nerve and it accounts for 10% of intracranial tumours and to 80%-90% of those located at the cerebellopontine angle. Despite slow growth and usual benign evolution, unfavourable outcomes may occur, especially in the rare cases of giant schwanno- mas (> 40mm). Owing the fact that this tumours are located in a relatively narrow space (posterior fossa), giant schwannomas may compress noble areas (as the brainstem), which can also cause obstructive hydrocephalus. We discuss a case report of a 48 years old woman complaining of left-sided hearing loss and tinnitus that developed a subacute cognitive impairment, mood disorder and gait disturbance, diagnosed with giant schwannoma of the VIII nerve.

Ataxia, ophthalmoplegia and laryngeal stridor related to glutamic acid decarboxylase antibodies / Ataxia, oftalmoplegia e estridor laríngeo relacionados a anticorpos antidescarboxilase do ácido glutâmico

Glutamic acid decarboxylase (GAD) is the enzyme responsible for the conversion of glutamate to gamma-aminobutyric acid (GABA) in the central nervous system. The presence of anti-GAD antibody in cerebrospinal fluid and high levels in blood have been described in some neurological disorders, such as stiff person syndrome and cerebellar ataxia. It is postulated that African descent with anti-GAD may exhibit more severe neurological impairment. We report a case of a young adult African descent with cerebellar syndrome associ-ated with ophthalmoplegia and laryngeal stridor. We found in the literature relationship of ophthalmoplegia plus ataxia with anti-GAD, but no reports of these symptoms with laryngeal stridor, apparently being the first reported case.

Descarboxilase do ácido glutâmico (GAD) é a enzima responsável pela conversão do glutamato em ácido gama-aminobutírico (GABA) no sistema nervoso central. A presença do anticorpo anti-GAD no líquido cefalorraquidiano e em altos níveis no sangue tem sido descrita em alguns distúrbios neurológicos, tais como a síndrome da pessoa rígida e ataxia cerebelar. Postula-se que pacientes afrodescendentes podem apresentar comprometimento neurológico mais severo. Relatamos o caso de um adulto jovem afrodescendente com síndrome cerebelar associada a oftalmoplegia e estridor laríngeo. Encontramos na literatura relação entre a oftalmoplegia com ataxia e anti-GAD, mas nenhum relato desses sintomas com estridor laríngeo, sendo aparentemente o primeiro caso reportado.

Mielopatia por deficiência de cobalamina: resolução clínica e de imagem / Cobalamin deficiency myelopathy: clinical and imaging resolution

Embora o quadro clássico de mielopatia por deficiência de vitaminaB12 seja a degeneração subaguda combinada da medula, a manifestaçãoclínica pode ser variável. Homem branco de 36 anos de idade com hipotireoidismo e vitiligo apresentou dormência nas mãos de início súbito. Exame físico: sinal de Lhermitte e hipoestesia nas palmas. Evidenciada alteração de sinal na ressonância magnética (RM) da medula cervical. Foram evidenciados nível sérico de vitamina B12 de 150 pg/mL, gastrite atrófica e hemograma normal. Paciente foi tratado com reposição intramuscular de vitamina B12. Após seis meses, houve remissão completa dos sintomas com normalização do exame de imagem em um ano. O presente caso ilustra discreta alteração clínica e lesão extensa na RM (dissociação entre a clínica e o exame de imagem) na deficiência de B12. A melhora dos sintomas precedeu a resolução da alteração no exame de imagem, no presente caso.

Although the classic manifestation of myelopathy due to vitamin B12deficiency is a subacute combined degeneration of the spinal cord, the clinical manifestation may be varied. A 36-year-old white man with hypothyroidism and vitiligo presented sudden onset of numbness in hands. Physical examination: Lhermitte's sign and hypoesthesia in palms. Signal change on magnetic resonance image (MRI) of the cervical spinal cord was evidenced. Serum vitamin B12 of 150 pg/mL, gastric atrophy and normal hemogram were shown. The patient was treated with intramuscular vitamin B12 replacement. After six months there was complete remission of the symptoms, and within one year the MRI was normal. This case illustrates mild clinical signs and extensive changes on MRI (dissociation between clinic and image) in B12 deficiency. Resolution of MRI was observed after the clinical signs, in the present case.

Syphilitic dementia presenting with Adie's tonic pupil and mesial temporal lobes hyperintensities / Demência sifilítica apresentando pupila tônica de Adie e hiperintensidades temporais mesiais

Syphilis became a rare cause of dementia in the present days. Screeningtests for syphilis are no longer recommended according to 2001.American Academy of Neurology guidelines. On the other hand, as itmay represent a potentially treatable cause in developing countries,the Academia Brasileira de Neurologia recommends laboratory screeningfor syphilis in patients with dementia. The diagnosis of neurosyphilisis established with basis on the clinical setting, along withtreponemal and non-treponemal serum antibodies, and cerebrospinalfluid pattern. Magnetic resonance imaging generally reveals cortical atrophy. Focal signs in the temporal lobes are rarely seen. A case of a young man diagnosed with neurosyphilis is presented, on the basis of neuropsychiatric symptoms, uncommon pupillary changes (Adie's tonic pupil), CSF with positive FTA-abs, and increased IgG index, and additionally mesial temporal lobes hypersignal changes.

Considera-se neurossífilis uma causa rara de demência atualmente.Testes para investigação de sífilis não são mais recomendados deacordo com as orientações da Academia Americana de Neurologia,de 2001. Por outro lado, como pode representar uma causa potencialmente tratável, a Academia Brasileira de Neurologia recomendaa investigação de sífilis em pacientes com demência. O diagnósticode neurossífilis é estabelecido pelo quadro clínico em associaçãocom anticorpos treponêmicos e não treponêmicos, e exame de LCR.Ressonância magnética revela, em geral, atrofia cortical. Presençasde sinais focais em lobos temporais são consideradas raras. É apresentado caso de homem jovem com diagnóstico de neurossífilis combase nas manifestações neuropsiquiátricas, alteração incomum aoexame pupilar (pupila de tônica de Adie), LCR com FTA-abs positivoe índice de IgG elevado, e ainda hipersinal nos lobos temporais mesiais.

Neuroimaging in Parkinsonism: a study with magnetic resonance and spectroscopy as tools in the differential diagnosis.

The differential diagnosis of Parkinsonism based on clinical features, sometimes may be difficult. Diagnostic tests in these cases might be useful, especially magnetic resonance imaging, a noninvasive exam, not as expensive as positron emission tomography, and provides a good basis for anatomical analysis. The magnetic resonance spectroscopy analyzes cerebral metabolism, yielding inconsistent results in parkinsonian disorders. We selected 40 individuals for magnetic resonance imaging and spectroscopy analysis, 12 with Parkinson's disease, 11 with progressive supranuclear palsy, 7 with multiple system atrophy (parkinsonian type), and 10 individuals without any psychiatric or neurological disorders (controls). Clinical scales included Hoenh and Yahr, unified Parkinson's disease rating scale and mini mental status examination. The results showed that patients with Parkinson's disease and controls presented the same aspects on neuroimaging, with few or absence of abnormalities, and supranuclear progressive palsy and multiple system atrophy showed abnormalities, some of which statistically significant. Thus, magnetic resonance imaging and spectroscopy could be useful as a tool in differential diagnosis of Parkinsonism.