Marcos R. G. de Freitas

17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population.

AbstractThe most frequent type of Charcot–Marie–Tooth (CMT) neuropathy is that associated with the 17p11.2–p12 chromosome duplication, whose characteristics have been well described in European and North American populations. In this study, we analyzed a Brazilian population exhibiting the mutation, found in 57 patients from 42 families (79%) of a cohort of 53 families with demyelinating CMT. Almost 20% of the duplicated cases were sporadic. In 77% of the duplicated families the mutation event occurred in the hot spot area of the CMT1A–Rep region. Forty–five percent of patients were females, 84% were Caucasians and 13% of African descent. Distal limb weakness was the most frequent abnormality, appearing in 84% of patients, although uncommon manifestations such as severe proximal weakness, floppy baby syndrome, diaphragmatic weakness and severe scoliosis were also observed. One patient was wheelchair–bound, and three suffered severe hand weakness. Sensory abnormalities were detected in 84% of the cases, but 80% were unaware of this impairment. Twelve patients complained of positive sensory manifestations such as pain and paresthesias. Progression was reported by 40%. Motor conduction velocities in the upper limbs were always less than 35 m/s, and less than 30.4 m/s in the peroneal nerve. The findings of this study expand the clinical spectrum of the disease.

Considerações sobre o músculo estriado na desnutrição proteica estudo experimental, em ratos albinos

The effects of undernutrition on the «gastrocnemius plantaris» muscle of young albino nats were observed with light and electronmicroscopy and were compared with controls. Pregnant rats received a diet containing 6.7% protein and the neonates had a 3.2% protein diet after weaning. A total number of 40 animals were distributed in two groups: one nypoproteic and one control. Half of the animals of each group were killed 15 days after birth and the remaining ones at 30 days. We could observe important reduction in the weight of the undernourished rats reaching about 50% when compared with the control animals. An important reduction in the diameter of muscle fibers was noted in undernourished rats. Histochemical reactions showed that not only the type I but also the type II fibers were involved, the latter being more severely reduced in size. Type II fibers os small diameter, resembling F (fetal) fiber were found in animals at 15 days indicating a delay in maturation. TJltrastructural evaluation of the muscle did not show specific changes except for a severe reduction in the caliber of fibers when compared with control animals. We concluded that there was hypoplasia and not atrophy of the muscular tissue in animals submitted to pre- and post-natal undernutrition. The present study, associated with others in which the spinal motor cells and peripheral nerves of undernourished rats were analysed, allow us to consider that with protein deprivation there is a delay in the development, a hypoplasia of the motor unit. We think that in infantile progressive spinal amyotrophy (Werdnig-Hoffmann disease) there is possibly hypoplasia and not atrophy of the type II fibers and we postulate that a metabolic proteic problem is involved in this disease.

The Syndrome of Irreversible Lithium-Effectuated Neurotoxicity (SILENT) : One-year follow-up of a single case

In this article, we report the case history of a 44-year-old female patient with bipolar disorder who developed the so-called Syndrome of Irreversible Lithium-Effectuated Neurotoxicity (SILENT). A detailed description of our patients neurologic status is provided at baseline (i.e. during lithium intoxication) and after one year of follow-up, confirming the persistency of cerebellar signs and symptoms. Although rare, our report - which shows a severe and disabling form of SILENT - underscores the need to perform a strict control of the putative risk factors argued to be associated with the development of this syndrome. In our case, the presence of fever and the administration of multiple doses of antipsychotics may have contributed to the poor outcome exhibited by the patient.

Hemimedullary infarct with ipsilateral hemiplegia: A vertebral artery dissection syndrome? ☆

BACKGROUND Hemimedullary syndrome is very rare and combines the clinical features of lateral and medial medullary infarctions. In patients with hemimedullary syndrome, the presence of ipsilateral, rather than contralateral hemiplegia, is rare. OBJECTIVE To describe a patient with an infarction in the right hemimedulla with an ipsilateral motor deficit due to dissection of the right vertebral artery (VA) and to assess whether the ipsilateral hemiplegia may be the result of a specific stroke mechanism. METHODS We reviewed the reports of hemimedullary syndrome in the literature and compared the characteristics of patients with dissection of the VA with those with VA atherosclerotic disease. RESULTS In our patient, magnetic resonance angiography showed dissection of the right VA to be the cause of the stroke. In a review of the literature (including our case), hemiplegia was ipsilateral to the infarction in four of the five patients with VA dissection, but contralateral in all six patients with atherosclerotic disease of the VA (p=0.01). In all five cases of VA dissection, the right hemimedulla was involved, while, in the six cases of atherosclerotic disease, the left side of the medulla oblongata was affected in five instances and the right side in one (p=0.01). CONCLUSION Dissection of the VA may provoke a hemimedullary lesion at a lower level than atherosclerosis, thus affecting medullary-penetrating branches that irrigate the medulla immediately below the pyramidal decussation. Hemimedullary syndrome accompanied by ipsilateral motor deficit should raise suspicion of dissection of the VA.

Benign monomelic amyotrophy with proximal upper limb involvement: case report

Monomelic amyotrophy (MA) is a rare condition in which neurogenic amyotrophy is restricted to an upper or lower limb. Usually sporadic, it usually has an insidious onset with a mean evolution of 2 to 4 years following first clinical manifestations, which is, in turned, followed by stabilization. We report a case of 20-years-old man who presented slowly progressive amyotrophy associated with proximal paresis of the right upper limb, which was followed by clinical stabilization 4 years later. Eletroneuromyography revealed denervation along with myofasciculations in various muscle groups of the right upper limb. We call attention to this rare location of MA, as well as describe some theories concerning its pathophysiology .

Tendências observadas em indicadores de extremos climáticos de temperatura e precipitação no estado do Paraná

This paper analyzes the trends of climate extremes based on indicators calculated from daily observational temperature and precipitation data series during 35 years at 20 IAPAR meteorological stations,, in the State of Parana. The objective is to contribute to assessing studies on climate impacts and vulnerability, required to develop adapting strategies to climate change. Initially, climatologic values of air temperature and precipitation in the State are revisited. With respect to trends in climate extremes, the results of the indicators associated with temperature indicate a widespread pattern of statistically significant warming in almost all Parana State. The percentage of hot days and nights in the State increased significantly at a rate of 0.1 to 0.4 %/year between 1976 and 2010. The annual minimum and maximum average temperatures indicate an increase in almost all Parana of +0.02°C/year over the same period. The minimum temperature indicators show more significant increasing trends than the maximum temperature does. Furthermore, most indicators of climate extremes associated with precipitation have no statistical significance, except for a few stations in different regions of the State. From these, only Pato Branco and Planalto, at southwestern Parana show an elevation trend of the dry period (+0.25 mm/year), and Cambara, Ibipora and Umuarama, in northern State show a reduction (-0.5 mm/year) of heavy rainfall.

Motor neuron disease and acquired axonal neuropathy association in HIV infection: case report and update.

BACKGROUND A possible viral etiology has been documented in the genesis of motor neuron disorders and acquired peripheral neuropathies, mainly due to the vulnerability of peripheral nerves and the anterior horn to certain viruses. In recent years, several reports show association of HIV infection with Amyotrophic Lateral Sclerosis - Syndrome, Motor Neuron Diseases and peripheral neuropathies. OBJECTIVE To report a case of an association between Motor Neuron Disease and Acquired Axonal neuropathy in HIV infection, and describe the findings of neurological examination, cerebrospinal fluid, neuroimaging and electrophysiology. METHODS The patient underwent neurological examination. General medical examinations were performed, including, specific neuromuscular tests, analysis of cerebrospinal fluid, muscle biopsy and imaging studies. RESULTS AND DISCUSSION The initial clinical presentation of our case was marked by cramps and fasciculations with posterior distal paresis and atrophy in the left arm. We found electromyography tracings with deficits in the anterior horn of the spinal cord and peripheral nerves. Dysphagia and release of primitive reflexes were also identified. At the same time, the patient was informed to be HIV positive with high viral load. He received antiretroviral therapy, with load control but with no clinical remission. CONCLUSION Motor Neuron disorders and peripheral neuropathy may occur in association with HIV infection. However, a causal relationship remains uncertain. It is noteworthy that the antiretroviral regimen may be implicated in some cases.

Leucodistrofia metacromática: registro de um caso

A case of metachromatic leucodystrophy in a three years old female patient is reported. Histopathological examination revealed metachromatic inclusions within the cytoplams of the neurons, which led the authors to comment on the physiopathogenesis of this disease, grouping it in cathegory of the lipidoses.A case of metachromatic leucodystrophy in a three years old female patient is reported. Histopathological examination revealed metachromatic inclusions within the cytoplasms of the neurons, which led the authors to comment on the physiopathogenesis of this disease, grouping it in category of the lipidoses.

Benign fasciculations and corticosteroid use: possible association? An update

Fasciculations are characterized by visible subtle and fast contractions of muscle, even wormlike in movement, by the contraction of a fascicle of muscle fibers. The authors present the case study of a 28-year-old patient with the appearance of migratory and diffuse fasciculations with an onset after partial tapering off of oral corticosteroides (60 mg total dose) indicated for treatment of Minimal change Glomerulopathy. Clinical Neurological physical exam allied with an ENMG, besides other complementary laboratory exams were used for screening the above-mentioned patient. Afterwards, current research relating to the topic at hand was made in order to update the data available in the Bireme, Scielo and PubMed Data Banks using the following key words: Fasciculations, motor neuron disease, and benign fasciculations in the Portuguese, English as well as Spanish language. Although fasciculations are most commonly associated with Motor neuron disease as well as with certain metabolic disorders, they may also be present in individuals with absolutely no underlying pathological disorders. In our case, fasciculation potentials that have been present for six months, with no other signs of a neurogenic disorder as well as absence of laboratory findings, the patient received a diagnosis of Benign Fasciculation Syndrome (BFS).We believe that the use of corticosteroides in high doses with subsequent tapering contributed to the fasciculations, especially due to the changes that this causes on the ionic channels. Fasciculations are symptoms seen in a large range of conditions, and also being the main symptom of the so-called Benign Fasciculation Syndrome. We have presented an example of this clinical syndrome in a patient whose complaint was fasciculations, with complete clinical remission of symptoms following complete tapering off of corticosteroid six months previously.

Post-poliomyelitis syndrome: case report

The post-polio syndrome (PPS) is an entity characterized for an episode of muscular weakness and/or abnormal muscular fatigue in individuals that had presented acute polio years before. We report the case of PPS in a patient, 40 years, that thirty-five years after had had paralytic poliomyelitis, developed new symptoms of fatigue, muscular atrophy, dyspnea, difficulties in deambulation and muscular and joint pain. The electromyographic findings revealed injuried neurons of the anterior horn of the marrow and reinnervation after muscular tests.