Elza Dias-Tosta

Amyotrophic lateral sclerosis in Brazil: 1998 national survey

OBJECTIVES To assess the epidemiologic characteristics of amyotrophic lateral sclerosis (ALS) in Brazil in 1998. METHOD Structured Clinical Report Forms (CRFs) sent to 2,505 Brazilian neurologists from January to September 1998 to be filled with demographic and clinical data regarding any ALS patient seen at any time during that year. RESULTS Five hundred and forty CRFs were returned by 168 neurologists. Data on 443 patients meeting the criteria of probable or definite ALS according to El Escorial definition were analysed: 63 probable (14.2%) and 380 definite (85. 8%). Two hundred and fifty-nine (58.5%) of the patients were male, mean age of onset was 52. Spinal onset occurred in 306 patients (69%); bulbar onset in 82 (18.5%), and both in 52 (11.7%). Twenty-six (5.9%) had a family history of ALS. Two hundred and fifty-nine (58.6%) were seen by private practitioners, and 178 (40. 2%) at a hospital clinic. Age-ajusted incidence shows a peak incidence at the 65-74 years old range. CONCLUSIONS The diseases characteristics are similar to those described in international studies, except for age of onset (Brazilian patients are younger). This difference is not confirmed when figures are age-adjusted.

Guillain Barré syndrome in a population less than 15 years old in Brazil

To know the impact of the Guillain Barré syndrome (GBS) in the population less than 15 years old, after the eradication of poliomyelitis. Data bank from the program of epidemiological surveillance of acute flaccid palsies (AFP) from the Fundação Nacional de Saúde were analyzed between 1990-1996. From 3619 notifications of AFP there were 1678 GBS. GBS yearly incidence rates is 0.39-0.63 cases/100,000. No consistent seasonal variation existed or relationship to vaccines. Weakness at inclusion were, moderate 52.1%, severe in 47.9%, sixty days after 57.1% normal, 7.4% mild, 15.7% moderate, 10.4% with severe deficits, death in 5.4%. 67 (4.0%) cases unknown. Death rates varies from 2.8% in southeast to 7.9% in the northeast. GBS was the most frequent cause of AFP. In spite of the severity of this disease being similar in the different regions, the outcome varies according to origin of the cases, possibly reflecting the economical conditions in those places.

Criteria for the diagnosis of Alzheimer's disease: Recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology

This consensus prepared by the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology is aimed at recommending new criteria for the diagnosis of dementia and Alzheimer’s disease (AD) in Brazil. A revision was performed of the proposals of clinical and of research criteria suggested by other institutions and international consensuses. The new proposal for the diagnosis of dementia does not necessarily require memory impairment if the cognitive or behavioral compromise affects at least two of the following domains: memory, executive function, speech, visual-spatial ability and change in personality. For the purpose of diagnosis, AD is divided into three phases: dementia, mild cognitive impairment and pre-clinical phase, where the latter only applies to clinical research. In the dementia picture, other initial forms were accepted which do not involve amnesia and require a neuroimaging examination. Cerebrospinal fluid biomarkers are recommended for study, but can be utilized as optional instruments, when deemed appropriate by the clinician.

Espasmo hemifacial e impressão basilar associados a malformação de arnold-chiari relato de caso

The authors report a case of symptomatic basilar impression and Arnold-Chiari malformation being presented as the first symptom of hemifacial spasm. The surgical treatment of the malformation resulted in improvement of the clinical manifestation with reduction of the hemifacial spasm. The need for the aetiological therapy for the hemifacial spasm is emphasized, before symptomatic treatment with botulinum toxin is tried.

Neurological morbidity in vaccine-associated paralytic poliomyelitis in Brazil from 1989 up to 1995

UNLABELLED We collected 30 cases of vaccine associated paralytic poliomyelitis (VAPP) from 4081 cases of acute flaccid palsies cases notified from 1989 to 1995 to the Brazilian Ministry of Health. There were 30 VAPP cases with 56% of children younger than 1 year old, 56.7% of female. 46% of cases were reported in the Northeast. Ten P2 vaccine virus, 8 P3 and 2 P1 and associations amongst them were isolated. The clinical pattern in 60 days was: monoplegia (16), paraplegia (6), tetraplegia (5), hemiplegia (2) and triplegia (1). There was no strong relationship between fever, before or after the prodrome period, or the use of intramuscular medication to morbidity. CONCLUSION if the anti-poliomyelitis strategy adopted in Brazil has lead to the eradication of the poliomyelitis with wild virus infection, the existence of a minimum risk of vaccine-associated poliomyelitis is a matter of concern because there will be a permanent neurological deficit.

Miastenia grave: tratamento com timectomia, corticóide e plasmaferese

This paper reviews a 12 year experience with myasthenia gravis management (surgical and drug therapy). A total of 27 patients were submitted to thymectomy, and 12 out of 13 showed fairly good results with this only form of therapy (15.3% with complete remission, 46.15% with marked improvement and 30.7% with moderate improvement). The other 14 need either a combination of surgery and plasmapheresis or corticosteroids with the cummulative results of: 14.8% of remission (4 out of 27), 74% of improvement (20 out of 27), 7.4% of worsening (2 out of 27) and 3.7% without change (1 out of 27). Two other patients not submitted to surgery showed either a stable state of their symptoms or a mildly worsening. Another eight patients not submitted to surgery could not be bollowed up. The authors also conclude by the validity of the use of plasmapheresis in myasthenic crises leading to a transient relief of the symptoms and suggest the use of corticosteroids as a second choice, due to their undesirable side effects and difficulty in their reduction and elimination without worsening the symptoms. Other immunosuppressive drugs could be used in cases in which those above cited therapies showed unsuitable results.This paper reviews a 12 year experience with myasthenia gravis management (surgical and drug therapy). A total of 27 patients were submitted to thymectomy, and 12 out of 13 showed fairly good results with this only form of therapy (15.3% with complete remission, 46.15% with marked improvement and 30.7% with moderate improvement). The other 14 need either a combination of surgery and plasmapheresis or corticosteroids with the cummulative results of: 14.8% of remission (4 out of 27), 74% of improvement (20 out of 27), 7.4% of worsening (2 out of 27) and 3.7% without change (1 out of 27). Two other patients not submitted to surgery showed either a stable state ot their symptoms or a mildly worsening. Another eight patients not submitted to surgery could not be hollowed up. The authors also conclude by the validity of the use of plasmapheresis in myasthenic crises leading to a transient relief of the symptoms and suggest the use of corticosteroids as a second choice, due to their undesirable side effects and difficulty in their reduction and elimination without worsening the symptoms. Other immunosuppressive drugs could be used in cases in which those above cited therapies showed unsuitable results.

Doença de Lafora: Uma possibilidade diagnóstica das demências juvenis

Five patients aged 12 to 16 years old were admitted between 1987 and 1994 at the neurological unit because of uncontrolled epilepsy. They had had a normal development until the adolescence, when a history of poor school performance and memory difficulty started. It is emphasized the clinical sequence of dementia followed by tonic-clonic seizures and myoclonus, the positive family history and the difficult therapeutic management, in spite of multiple anticonvulsant combinations, including sodium valproate and clonazepam. The clinical and laboratory differential diagnosis were discussed to show that similar cases should be submitted to skin biopsy looking for Lafora bodies in apocrine and eccrine glands. However, the liver is considered as the most reliable site for the biopsy, which in our study showed positivity in four out of the five cases.

O uso de corticosteróides na síndrome de Guillain-Barré: estudo de 51 casos

This is a retrospective analysis of 51 patients admitted to the Hospital de Base do Distrito Federal (Brasilia, Brazil), with the Guillain-Barre syndrome, from 1974 to 1984. Eighteen patients were treated with corticosteroids (prednisone or dexamethasone), whereas 33 did not receive such treatment. The clinical course (degree of recovery, sequelae, complications, causa mortis) and the length of the hospital stay were compared in these two groups. It is concluded that the use of corticosteroids did not have a major effect on the clinical course of the illness. Moreover, the only two cases of relapses occurred in patients that had been treated with corticosteroids.This is a retrospective analysis of 51 patients admitted to the Hospital de Base do Distrito Federal (Brasília, Brazil), with the Guillain-Barré syndrome, from 1974 to 1984. Eighteen patients were treated with corticosteroids (prednisone or dexamethasone), whereas 33 did not receive such treatment. The clinical course (degree of recovery, sequelae, complications, causa mortis) and the length of the hospital stay were compared in these two groups. It is concluded that the use of corticosteroids did not have a major effect on the clinical course of the illness. Moreover, the only two cases of relapses occurred in patients that had been treated with corticosteroids.

Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness

Congenital myasthenic syndrome (CMS) is a heterogeneous disorder that causes fatigable muscle weakness. CMS has been associated with variants in the MuSK gene and, to date, 16 patients have been reported. MuSK‐CMS patients present a different phenotypic pattern of limb girdle weakness. Here, we describe four additional patients and discuss the phenotypic and clinical relationship with those previously reported. Two novel damaging missense variants are described: c.1742T > A; p.I581N found in homozygosis, and c.1634T > C; p.L545P found in compound heterozygosis with p.R166*. The reported patients had predominant limb girdle weakness with symptom onset at 12, 17, 18, and 30 years of age, and the majority exhibited a good clinical response to Salbutamol therapy, but not to esterase inhibitors. Meta‐analysis including previously reported variants revealed an increased likelihood of a severe, respiratory phenotype with null alleles. Missense variants exclusively affecting the kinase domain, but not the catalytic site, are associated with late onset. These data refine the phenotype associated with MuSK‐related CMS.

Acidente vascular de tronco encefálico: estudo de 21 casos

A prospective study was designed to follow patients with syndromes of brain stem during 12 months (in 1991-1992). The aim was to correlate clinical and radiologic findings and comparing them with the classical descriptions of brain stem syndromes. Twenty one consecutive patients were admitted at the Hospital de Base do Distrito Federal. The diagnosis and the follow up were carried out by neurological examination and neuroradialogic images: CT (100%), angiography (24%, S) and MRI (5%, 1). Hypertension and old age were the most important risk factors and hemorrhage at pons with extension to midbrain was the most frequent finding. Coma at admission was associated to a poor outcome. The outcome was defined by the Glasgow Outcome Scale: 28% rated S, 24% rated 4, 5% rated 3; 28% rated 2 and 14% rated 1. Our results show that the clinical presentation of ischemic strokes and hemorrhages of the brain stem very frequently follow a mixed pattern, which do not conciliate with the classical descriptions of these syndromes.