Eduardo Davidovich

Neuropathic pain treatment: still a challenge

Neuropathic pain (NP) is the result of a series of conditions caused by diseases or lesions to the somatosensory system. Due to the better understanding of NP pathophysiology previously unexplored therapies have been used with encouraging results. In this group, acetyl-L-carnitine, alpha-lipoic-acid, cannabinoids, clonidine, EMA401, botulinum toxin type A and new voltage-gated sodium channel blockers, can be included. Besides, changing paradigms may occur with the advent of optogenetics and a better understanding of epigenetic regulation. We reviewed the published literature on the pharmacological treatment of NP. Despite the interesting results, randomized controlled trials are demanded the majority of the therapies previously mentioned. In spite of several studies for the relief of NP, pain control continues being a challenge.

Total lesion of the radial nerve in the arm with preservation of the superficial radial nerve sensory action potential

Neurology and Neuroscience Clinical Research Sub-Unit (Neuro-UPC), Hospital Universitario Antonio Pedro, Universidade Federal Fluminense (UFF), Rio de Janeiro RJ, Brazil. Correspondence: Osvaldo Jose Moreira do Nascimento; Rua Siqueira Campos 53 / 1.204; 22031-070 Rio de Janeiro RJ Brasil; E-mail: osvaldo_nascimento@hotmail.com Conflict of interest: There is no conflict of interest to declare. Received 27 March 2012; Received in final form 19 June 2012; Accepted 26 June 2012

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.

Superficial radial nerve–lateral antebrachial cutaneous nerve anatomic variation

This study focuses on an anatomic variation in which the lateral antebrachial cutaneous nerve (LACN) innervates the radial border of the dorsum of the hand and thumb in addition to, or replacing, the superficial radial nerve (RSN). Here, we propose a technique of nerve conduction that identifies this variation.

Cervical spondylotic myelopathy: what the neurologist should know

Cervical spondylotic myelopathy is a well-known cause of disability among older people. A significant amount of these patients is asymptomatic. Once the symptoms start, the worsening may follow a progressive manner. We should suspect of spondylotic myelopathy in any individual over 55 years presenting progressive changes in gait or losing fine motor control of the upper limbs. Despite its frequent prevalence, this condition is still neglected and many times confused with other supratentorial lesions regarding diagnostic. Here we address some of most important aspects of this disease, calling attention to pathophysiology, the natural history, presentation, differential diagnosis, clinical assessment, and treatment.

Currents issues in cardiorespiratory care of patients with post-polio syndrome

METHOD A search for papers was made in the databases Bireme, Scielo and Pubmed with the following keywords: post polio syndrome, cardiorespiratory and rehabilitation in English, French and Spanish languages. Although we targeted only seek current studies on the topic in question, only the relevant (double-blind, randomized-controlled and consensus articles) were considered. RESULTS AND DISCUSSION Certain features of PPS such as generalized fatigue, generalized and specific muscle weakness, joint and/or muscle pain may result in physical inactivity deconditioning obesity and dyslipidemia. Respiratory difficulties are common and may result in hypoxemia. CONCLUSION Only when evaluated and treated promptly, somE patients can obtain the full benefits of the use of respiratory muscles aids as far as quality of life is concerned.

Pompe disease: distal myopathy in a previously unreported heterozygous variant

Background: Pompe disease (PD) is an autosomal recessive, rare disease, caused by a deficiency on lysosomal enzyme alpha-glucosidase (GAA). It causes progressive muscular weakness and may lead to respiratory impairment. Presentation may occur as soon as in newborns (early-onset) or later in children, adolescents or adults (late-onset). There are genotypic and phenotypic variations on disease. We describe two cases (mother and daughter) with previously unreported mutations and clinical heterogeneity. Objective: To report a previously unreported heterozygous variant in exon 8 of the GAA gene (c.1198G>A p.V400I) associated to a distal myopathy presentation. Methods: Patient 1 is a 38-year-old female presented with a 5-year disease progression that started with distal limb weakness, with foot dorsiflexion impairment. She has recently started to present dyspnea. Electroneuromyography (EMG) showed normal neuroconduction and an unequivocal distal myopathy pattern. Patient 2, her daughter (23 y.o.) presented dyspnea and no evident weakness at neurological examination; a pericardic effusion was observed at ultrasound examination. Parents are consanguineous. EMG findings suggested a proximal myopathy. Both patients were tested genetically for PD (CENTOGENE®). Results: Genotype for both patients are presented: Patient 1 - Tandem MS alpha-glucosidase (Pompe) - 1,7 μmol/l/h (reference: > 3 μmol/l/h). Gene sequencing GAA - heterozygous variant (c.1198G>A p.V400I). Tandem MS sphingomyelinase (control) - 1,9 μmol/l/h (reference: 蠅 2 μmol/l/h). Patient 2 - Tandem MS alpha-glucosidase (Pompe) - 2,7 μmol/l/h (reference: > 3 μmol/l/h) Gene sequencing GAA - heterozygous variant (c.1198G>A p.V400I). Conclusion: Our patients present the phenotypic heterogeneity of PD under the same genotypic variation in the same family, being ours the first distal myopathy case reported. We also detected a previously unreported heterozygous variant in exon 8 of the GAA gene (c.1198G>A p.V400I). PD is a rare, heterogeneous condition that may mimic many neuromuscular conditions. Disclosure: Dr. Farinhas has nothing to disclose. Dr. Nascimento has nothing to disclose. Dr. Davidovich has nothing to disclose. Dr. Dornas has nothing to disclose. Dr. Pupe has nothing to disclose. Dr. Coutinho has nothing to disclose.