Symptom onset of spinocerebellar ataxia type 10 in pregnancy and puerperium.

Spinocerebellar ataxia type 10 is an autosomal dominant neurodegenerative disorder. It was initially described in Mexican families presenting with ataxia and epilepsy, with or without polyneuropathy, pyramidal signs and cognitive symptoms. The authors report three patients from the same family who were asymptomatic until gestation and puerperium, when they developed symptoms and signs suggestive of the syndrome. Genetic diagnosis was made in the three patients. The authors hypothesize that hormonal changes are likely to influence the manifestation of the condition.

The Brazilian database on pregnancy in multiple sclerosis.

OBJECTIVES: To report the results from the Brazilian database on multiple sclerosis (MS) and pregnancy. METHODS: Retrospective data from MS patients who became pregnant at any time of their disease were sent to a Brazilian database, using a specific file for this purpose. RESULTS: Data on 128 women (142 pregnancies) from 30 neurologists working in 21 cities in Brazil were collected. Patients' average age at pregnancy was 29.8 years (range 16-42). EDSS at start of pregnancy was 1.5±1.4; and the relapse rate in the year preceding pregnancy was 1.2±1.5. Exposure to medication at any time during pregnancy was high (69.7%): 48.6% to interferon beta; 14.1% to glatiramer acetate; and 7% to other immunomodulatory and immunosuppressive drugs. There was a significant decrease in relapse rate during pregnancy. The prevalence of complications was relatively low, with 4.9% of obstetric and 1.4% neonatal unfavorable outcomes. CONCLUSIONS: Our patients had low degrees of disability, short histories of disease, high drug exposure, and relatively high relapse rate in the year previous to pregnancy. Obstetric and neonatal outcomes were successful in over 90% of our patients.

Clinical phenotype of Brazilian families with spinocerebellar ataxia 10.

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant ataxia caused by an ATTCT repeat expansion in an intron of the SCA10 gene. SCA10 has been reported only in Mexican families, in which the disease showed a combination of cerebellar ataxia and epilepsy. The authors report 28 SCA10 patients from five new Brazilian families. All 28 patients showed cerebellar ataxia without epilepsy, suggesting that the phenotypic expression of the SCA10 mutation differs between Brazilian and Mexican families.

Aseptic meningitis in a large MMR vaccine campaign (590,609 people) in Curitiba, Paraná, Brazil, 1998.

The aseptic meningitis after Measles-Mumps-Rubella vaccine (MMR) is a well recognized complication, and different incidences have been observed in several studies. We retrospectively analyzed forty cases of aseptic meningitis, during a large public immunization campaign (1998) in Curitiba, Southern Brazil (590,609 people), admitted in our Service. The vaccine utilized was Leningrad-3-Zagreb mumps strain, Edmonston-Zagreb measles strain, and RA 27#3 rubella strain. In all county, a total number of 87 cases were reported, resulting in a incidence of 1.7 cases per 10,000 given doses. The mean age was 23.7 +/- 12.8 years. The female:male ratio was 1.35:1. Severe headache with meningismus (92.5%), fever (87.5%), nausea/vomiting (82.5%) were the most common clinical findings. Three cases (7.5%) developed mild mumps. All patients underwent cerebrospinal fluid (CSF) tap with the following findings: mononuclear pleocytosis from 100 to 500 cells/mm(3) in 17 cases (42.5%; 257.5 +/- 260.6 cells/mm3); increased protein 28 cases (67.5%; 92.1 +/- 76.9 mg/dL); glucose was normal in all cases (56.8 +/- 11.2 mg/dL) except in 4 (10%) cases, which presented less than 44 mg/dL. All serological tests (latex to bacterial meningitis, Cryptococcus, cysticercosis, VDRL) and bacteriological cultures were negative. Virus identification were also negative in 8 samples. None of the patients had neurological deficits or related symptoms after one year of onset. We believe the benefit of vaccination clearly outweighs the incidence of benign vaccine-associated meningitis.

Amyloidotic muscle pseudohypertrophy: case report.

The authors report one case of amyloidosis associated with muscular pseudohypertrophy in a 46-year-old woman, who developed weakness, macroglossia and muscle hypertrophy associated with primary systemic amyloidosis. Electromyography showed a myopathic pattern and bilateral carpal tunnel syndrome. The muscle biopsy presented with a type I and II fiber hypertrophy and infiltration of amyloid material in the interstitious space and artery walls. She underwent bone marrow transplantation with stabilization and subjective improvement of the clinical picture.

Multiple sclerosis: report on 200 cases from Curitiba, Southern Brazil and comparison with other Brazilian series.

We reviewed the clinical and laboratory findings of 200 patients in Curitiba, Southern Brazil (25 degrees 25'40" S; 49 degrees 16'23" W-GR), with multiple sclerosis (MS)according to Poser's criteria. The patients were classified as: clinically definite (A1 and A2) - 142 patients (71%); laboratory-supported definite - 42 patients (21%); and clinically probable - 16 patients (8%). Relapsing-remitting (RR) form was the most common clinical presentation, with 182 (91%), followed by primary progressive (PP)(16 cases, 8%), and only 2 cases with secondarily progressive form (SP). Nine women and 7 men totalized the 16 PP cases. The mean age of onset was 32.0+/-9.9 (median 32 years). The gender ratio was female 1.8:1 male. All patients, except 3 African-Brazilian, were white. Seven (3.5%) patients developed a clinical history of Devic's syndrome. The initial clinical picture included brainstem/cerebellar syndrome in 126 (63%) cases, sensorial findings in 106 (53%)patients, motor (pyramidal) syndrome in 102 (49.5%), and optic neuritis in 79 (39.5%) cases. 122 (61%) patients had a final EDSS score < 3.5; 45 (22.5%) a score between 3.5 and 5.5, and 33 (16.5%) a score > or = 6.0. There was no significant correlation between the number of relapses or duration of disease with EDSS scores (Spearman's test). Only 14 (7%) of the total number presented the benign form (EDSS< 3.5 after 10 years of disease). We observed a later age of onset and initial clinical findings with higher frequency of brainstem/cerebellar syndrome and optic neuritis, when compared to other Brazilian and Western series

Charcot and Brazil.

OBJECTIVE: To describe the relationship between Professor Charcot and Brazil. BACKGROUND: During the XIX century, French Neurology and its most prominent figure, Professor Charcot, dominated the area of nervous system diseases in the world. METHOD: We have reviewed some of the main publications about Charcot's life, the biography of Dom Pedro II, Emperor of Brazil and the development of Neurology in Brazil. RESULTS: Among the most important patients in Charcot's practice was the Emperor of Brazil. Dom Pedro II became a close friend of Charcot and he was a distinguished guest at Charcot's house, particularly at Tuesday soirées on boulevard St. Germain. In 1887, during the visit of Dom Pedro II to France, Charcot evaluated him and made the diagnosis of surmenage. In 1889, Dom Pedro II was disposed and went to Paris, where he lived until his death in 1891. Charcot signed the death certificate and gave the diagnosis of pneumonitis. Charcot had a passionate affection for animals, a feeling shared by Dom Pedro II. Dom Pedro II was affiliated to the French Society for the Protection of Animals. It is conceivable that Charcot's little monkey, from South America, was given to him by Dom Pedro II. The Brazilian Neurological School was founded by Professor A. Austregésilo in 1911, in Rio de Janeiro. At the time, of Charcot's death in 1893, his influence was still very important in the whole world. He and his pupils played a major role in the development of Brazilian Neurology. CONCLUSION: Professor Charcot had a close relationship with the Emperor of Brazil, Dom Pedro II. He was his private physician and they were close friends. The neurological school, created by professor Charcot, contributed significantly, albeit in an indirect way, to the development of Brazilian Neurology, starting in 1911, in Rio de Janeiro, by Professor A. Austregésilo.

Inflammatory myopathy on HTLV-I infection: case report.

We describe a 41 years old woman who 17 years ago presented hypotonia and proximal muscular weakness in the upper and lower limbs. On neurological examination, the biceps, triceps and Achilles reflexes were absent; the brachioradialis reflexes were decreased and the patellar reflexes were normal. There was bilateral Babinski sign. The remainder of the neurological examination was unremarkable. In the investigation a myopathic pattern was found in the electromyography. The nerve-conduction study was normal; a ELISA method for HTLV-I antibodies was positive in the blood and in the cerebral spinal fluid. The muscle biopsy showed inflammatory myopathy, compatible with polymyositis. This paper focuses the polymyositis in the beginning of an HTLV-I infection case.

Saphenous vein graft bypass in the treatment of giant cavernous sinus aneurysms: report of two cases.

Two cases of giant intracavernous aneurysms treated by high flow bypass with saphenous vein graft between the external carotid artery (ECA) and branches of the middle cerebral artery (MCA) are presented. Very often these aneurysms are unclippable because they are fusiform or have a large neck. Occlusion of the internal carotid artery (ICA) is the treatment of choice in many cases. This procedure has however a high risk of brain infarction. Revascularization of the brain by extra-intracranial anastomosis between the superficial temporal artery (STA) and branches of the MCA is frequently performed. This procedure provides however a low flow bypass and brain infarction may occur. We report two cases of giant cavernous sinus aneurysms treated by high flow bypass and endovascular balloon occlusion of the ICA. Immediate high flow revascularization of MCA branches was achieved and the patients showed no ischemic events. Follow-up of 8 and 14 months after operation shows patency of the venous graft and no neurological deficits. Angiographic control examination showed complete aneurysm occlusion in both cases.

[Arteriovenous malformations of the central nervous system. Analysis of 53 cases]. / Malformações arteriovenosas do sistema nervoso central. Análise de 53 casos.

Fifty-three patients with arteriovenous malformation (AVM) were studied. The mean age at the time of diagnosis was 32.5 +/- 11.5 years (range 3 to 56 years); the sex ratio was male 1.9:1 female. The most common clinical presentation was intracranial hemorrhage, followed by focal neurological signs, headache, epilepsy, and acute deep coma. Fourty-three (82%) out of the total number of AVM were supratentorial and had the following distribution: 10 temporal lobe, 9 pariental lobe, 6 frontal lobe, 3 occipital lobe, 3 frontotemporal, 4 corpus callosum/pericalosal, 1 temporo-occipital, 1 temporoparieto-occipital, 6 deep-located (3 thalamic, 3 basal ganglia). Spetzler-Martin grade II was seen in 17 cases (32%), grade III in 21 cases (39%), and grade IV in 10 cases (19%). AVM-associated aneurysms were detected in 3 patients (5.6%). All three cases were middle artery aneurysms ipsilateral to AVM. Twelve (32%) out of 37 operated patients were submitted to embolization prior to surgery. AVM was totally removed in all cases except one. Embolization without posterior surgery was used in 11 patients; in 3 of them, embolization was partial. Two patients were neither embolized nor operated on. Three patients were, submitted to radiosurgery because they were poor candidates to embolization and/or surgery. Mortality rate was 1.8%. All patients returned to their normal life function after a period of recovery. Associated or isolated therapies should be individualized to each patient with AVM and is likely to provide results better than the expected outcome without any treatment.

Hereditary motor and sensory neuropathy with congenital glaucoma. Report on a family.

We report three siblings of a family with hereditary motor and sensory polyneuropathy (HMSN) and buphthalmos. Electrophysiological studies showed a demyelinating neuropathy and pathological findings showed severe loss of myelinated fibers (MF), thin myelin sheaths and myelin infoldings in a few remaining MF. The presumed mode of inheritance is autosomal recessive. This family probably represents an unique form of CMT4 that may be related to one of the congenital glaucoma genic locus, particularly GLC3A and GLC3B, described in Turkish families.

Chronic Aspergillus sp. meningitis successfully treated with fluconazole. Case report.

We a case of chronic Aspergillus sp. meningitis in a healthy 43-year-old woman successfully treated with fluconazole given orally (300 ms/day). The diagnosis was made by detection of anti-aspergillus antibodies and positive culture to Aspergillus sp. in the cerebrospinal fluid.

Pineal metastasis as first clinical manifestation of colorectal adenocarcinoma. Case report.

Cerebral metastases from colorectal adenocarcinomas occur in 8% of the cases. Diagnosis is usually made when primary disease and widespread metastases are already known. We report the case of a patient with single metastases in the pineal region as the first clinical manifestation of a colorectal adenocarcinoma. A 48-year-old female with Parinaud's syndrome for 15 days prior her admission was evaluated in our clinic. She had no symptoms or signs of colorectal disease. MRI examination revealed an heterogeneous lesion with peritumoral gadolinium enhancement, located in the pineal region. The tumor was radically resected through an infratentorial/supracerebellar approach. Histology showed metastatic carcinoma and immunohistochemical examination showed gastrointestinal tract adenocarcinoma. Metastases to the pineal region are extremely rare and should be considered in the differential diagnosis of tumors of this region.

[Migraine with aphasia. Report of a family]. / Migrânea com afasia. Relato de uma família.

We describe a Brazilian family in which one female patient and her three daughters present a clinical course compatible with migraine, preceded by language disorders (aphasia), without paresis. Several aspects related to genetics of migraine are reviewed. We conclude that further genetical studies are necessary to establish if these cases are different sources of well-known migraine subtypes as the familial hemiplegic migraine.

[Stereotactic implantation of depth electrodes by magnetic resonance image in epilepsy surgery]. / Implantação estereotáxica de eletrodos profundos por ressonância magnética para cirurgia de epilepsia.

We present the case of a 40-year-old woman with refractory epilepsy since aged 18, who was submitted to video-EEG monitoring with intracerebral depth electrodes. The clinical history and examination, magnetic resonance image (MRI), video-EEG and neuropsychological study did not allow the determination of the cerebral onset of epileptic seizures. Depth electrodes inserted by MRI-guided stereotaxis allowed the recording of the epileptic activity and thus showed quite accurately the area of the brain to be surgically resected. She underwent a right anterior temporal lobectomy with amygdalohippocampectomy. The immediate postoperative period was uneventful and she is without epileptic seizures after three months of follow-up. The average pre-operative free-seizure period was two weeks. To our knowledge, this is the first stereotactic surgery for insertion of depth intracerebral electrodes in epilepsy in Brazil.

Primary lateral sclerosis. A case report with SPECT study.

Primary lateral sclerosis (PLS) is a neurodegenerative disease with progressive corticospinal involvement and characterized by lower limbs spasticity followed by upper limbs involvement,rare cranial nerve involvement, typical sparing of all sensory modalities, sphincteric function and eventually mild cognitive changes. The authors report a case of PLS in a 43-year-old woman with 3 years of clinical follow-up and extensive laboratory investigation, including a SPECT study which disclosed bilateral frontal motor area hypometabolism. Several aspects about this unique disease were reviewed,including differential diagnosis with other more common neurological disorders.

[Neurocysticercosis. A tomographic diagnosis in neurological patients]. / Neurocisticercose. Diagnóstico tomográfico em pacientes neurológicos.

Neurocysticercosis (NC) is the most common parasitic disease of the central nervous system and accounts for a significant proportion of morbidity and mortality, in special epilepsy. The authors reviewed 3093 computed tomography scans out of 2554 randomized neurological patients evaluated during a one year period. Most patients (77.3%) were living in Curitiba, Paraná, Brazil. 1821 (58.9%) CT scans were normal. NC was diagnosed in 236 patients based on tomographic criteria; the sex ratio was F:M 1.6:1. 219 (92.8%) patients had the inactive form of NC: 195 (89%) had only isolated intraparenchymal calcifications, and 24 calcifications plus hydrocephalus. Active forms were observed in 14 patients: 8 with degenerating cysts, 4 with viable cysts, 1 with intraventricular cyst, and 1 with racemose form. Three patients had both forms, active (cysts) and inactive (calcifications). The most common clinical finding among patients with tomographic diagnosis of NC was headache alone (35.5%), followed by epilepsy (20.9%). There is a potential role of NC as a causal factor of epilepsy in most of our patients, but surely not in all of them. On the other hand, the finding of inactive NC (calcifications without hydrocephalus and/or meningitic reaction) in patients with headache is probably fortuitous in most cases. In fact, the occasional finding of isolated calcifications in general population is not quite rare, as it was observed in 3.3% of another series of 973 patients with head trauma submitted to CT scan and without epilepsy previous history. The presence of CT findings compatible with NC, especially calcifications, must be carefully correlated with the clinical context in each case. Only then, an unequivocal cause-effect with all its medical and epidemiological implications role can be established.