ABSTRACT
Allgrove or triple A syndrome (AS or AAA) is a rare autosomal recessive syndrome with variable phenotype due to mutations in AAAS gene which encodes a protein called ALADIN. Generally, it's characterized by of adrenal insufficiency in consequence of adrenocorticotropic hormone (ACTH) resistance, besides of achalasia, and alacrimia. Neurologic features are varied and have been the subject of several case reports and reviews. A few cases of Allgrove syndrome with motor neuron disease have been already described. A 25-year-old white man, at the age of four, presented slowly progressive distal amyotrophy and weakness, autonomic dysfunction, dysphagia and lack of tears. He suffered later of orthostatic hypotension and erectile dysfunction. He presented distal amytrophy in four limbs, tongue myofasiculations, alacrimia, hoarseness and dysphagia due to achalasia. The ENMG showed generalized denervation with normal conduction velocities. Genetic testing revealed 2 known pathogenic variants in the AAAS gene (c.938T>C and c.1144_1147delTCTG). Our case presented a distal spinal amyotrophy with slow evolution and symptoms and signs of AS with a mutation in AAAS gen. Some cases of motor neuron disease, as ours, may be due to AAS. Early diagnosis is extremely important for symptomatic treatment.
ABSTRACT
Neuromuscular diseases are multifactorial pathologies characterized by extensive muscle fiber damage that leads to the activation of satellite cells and to the exhaustion of their pool, with consequent impairment of neurobiological aspects, such as cognition and motor control. To review the knowledge and obtain a broad view of the cognitive impairment on Neuromuscular Diseases. Cognitive impairment in neuromuscular disease was explored; a literature search up to October 2017 was conducted, including experimental studies, case reports and reviews written in English. Keywords included Cognitive Impairment, Neuromuscular Diseases, Motor Neuron Diseases, Dystrophinopathies and Mitochondrial Disorders. Several cognitive evaluation scales, neuroimaging scans, genetic analysis and laboratory applications in neuromuscular diseases, especially when it comes to the Motor Neuron Diseases, Dystrophinopathies and Mitochondrial Disorders. In addition, organisms model using rats in the genetic analysis and laboratory applications to verify the cognitive and neuromuscular impacts. Several studies indicate that congenital molecular alterations in neuromuscular diseases promote cognitive dysfunctions. Understanding these mechanisms may in the future guide the proper management of the patient, evaluation, establishment of prognosis, choice of treatment and development of innovative interventions such as gene therapy.
ABSTRACT
The aim of this paper is to study the prevalence of Zika Virus (ZIKV) and the index of its neurological complications. This is a quantitative, cross-sectional epidemiological study. Data were collected through the compulsory notification of suspected ZIKV and its neurological alterations cases. 113 suspected ZIKV cases were reported, most of them in the summer, with a higher prevalence of females and in the fourth decade of life. Among the neurological changes, 15 Guillain-Barré Syndrome cases were reported, with one registered death. As neurological manifestations, most of them started 30 days after a ZIKV infection. No case has been confirmed laboratory. It is necessary to combat the vector, mainly in the summer, to reduce ZIKV infection and its neurological complications, besides instruction to the health professionals about these complications and serological tests requests for an accurate diagnosis.
ABSTRACT
The visual acuity loss enables the brain to access new pathways in the quest to overcome the visual limitation and this is wellknown as neuroplasticity which have mechanisms to cortical reorganization. In this review, we related the evidences about the neuroplasticity as well as cortical anatomical differences and functional repercussions in visual impairments. We performed a systematic review of PUBMED database, without date or status publication restrictions. The findings demonstrate that the visual impairment produce a compensatory sensorial effect, in which non-visual areas are related to both cross (visual congenital) and multimodal (late blind) neuroplasticity.
ABSTRACT
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.
ABSTRACT
Amyotrophic lateral sclerosis (ALS), Charcot's disease or Lou Gehrig's disease, is a term used to cover the spetrum of syndromes caracterized by progressive degeneration of motor neurons, a paralytic disorder caused by motor neuron degeneration. Currently, there are approximately 25,000 patients with ALS in the USA, with an average age of onset of 55 years. The incidence and prevalence of ALS are 1-2 and 4-6 per 100,000 each year, respectively, with a lifetime ALS risk of 1/600 to 1/1000. It causes progressive and cumulative physical disabilities, and leads to eventual death due to respiratory muscle failure. ALS is diverse in its presentation, course, and progression. We do not yet fully understand the causes of the disease, nor the mechanisms for its progression; thus, we lack effective means for treating this disease. In this chapter, we will discuss the diagnosis, treatment, and how to cope with impaired function and end of life based on of our experience, guidelines, and clinical trials. Nowadays ALS seems to be a more complex disease than it did two decades - or even one decade - ago, but new insights have been plentiful. Clinical trials should be seen more as experiments on pathogenic mechanisms. A medication or combination of medications that targets more than one pathogenic pathway may slow disease progression in an additive or synergistic fashion.
ABSTRACT
Fasciculations are visible, fine and fast, sometimes vermicular contractions of fine muscle fibers that occur spontaneously and intermittently. The aim of this article is to discuss the main causes for fasciculations and their pathophysiology in different sites of the central/peripheral injury and in particular to disprove that the presence of this finding in the neurological examination is indicative of amyotrophic lateral sclerosis. Undoubtedly, most fasciculations have a distal origin in the motor nerve both in normal subjects and in patients with motor neuron disease. Most of them spread to other dendritic spines often producing an antidromic impulse in the main axon. The clinical and neurophysiological diagnosis must be thorough. It may often take long to record fasciculations with electroneuromyography. In other cases, temporal monitoring is necessary before the diagnosis. The treatment, which may be adequate in some cases, is not always necessary.
ABSTRACT
Human T-lymphotropic virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic inflammatory disease of the spinal cord, characterized by spastic paraparesis, back pain, and sphincter disorders. Involvement of multiple organs and encephalopathy are uncommon in HAM/TSP. Nonspecific small white matter lesions of unknown etiology, mainly in the periventricular and subcortical regions, have been found on brain magnetic resonance imaging of HAM/TSP patients. Bitemporal lesions have rarely been described. We report the case of a 54-year-old woman diagnosed with HAM/TSP who presented subclinical cognitive deficits associated with bitemporal and widespread white matter lesions. The cerebrospinal fluid (CSF) was inflammatory (blood-CSF barrier dysfunction, intrathecal synthesis of total and HTLV-1 IgG). The proviral load was higher in cerebrospinal fluid than in peripheral blood mononuclear cells. The neurological picture was complicated by multi-organ inflammatory disease (Hashimoto's thyroiditis, uveitis, anemia, and chronic renal failure). This case highlights the potential multisystem inflammatory nature of HTLV-1 infection, with a wide spectrum of manifestations. In cases of HAM/TSP with multi-organ inflammatory disease, encephalic involvement should be investigated, even in the absence of clinical manifestations. Also bitemporal lesions can be the consequence of intense and diffuse inflammation associated with HTLV-1 infection.
Subject(s)
HTLV-I Infections/complications , Human T-lymphotropic virus 1 , Paraparesis, Tropical Spastic/etiology , Paraparesis, Tropical Spastic/pathology , Temporal Lobe/pathology , White Matter/pathology , Female , Humans , Magnetic Resonance Imaging , Middle Aged , Paraparesis, Tropical Spastic/diagnosisABSTRACT
OBJECTIVES: To evaluate the clinical, neurophysiological and histological features of cases of neuropathy developing after completion of anti-leprosy treatment, where biopsy showed inflammatory changes. PATIENTS AND METHODS: Seven patients were evaluated by a single neurologist. Electro-neuro-myography and peripheral nerve biopsy were performed in all patients. RESULTS: Median age was 50-6 years. Time from release from treatment and onset of symptoms ranged from 1 to 12 years (median of 6.6 years). Sensory symptoms were the most common complaint, including pain (71%) and paresthesiae (71%). Muscle weakness was found in 51% and muscle atrophy in 43% of the subjects. Peripheral nerve thickening was present in all patients. Neurophysiological studies suggested sensory-motor polyneuropathy and multiple mono-neuropathy. Nerve biopsy showed inflammatory processes with fibrosis of endoneurium, perineurium and epineurium and total or partial loss of fibres. No bacilli were detected with Wade staining. Patients treated with corticosteroids had some relief of symptoms. CONCLUSION: After release from treatment, leprosy patients may insidiously develop progressive peripheral nerve symptoms not fulfilling criteria for relapse or leprosy reactions. Sensory symptoms predominate and peripheral nerve thickening is an important finding. We speculate that these late onset symptoms are secondary to chronic immune-mediated processes in response to antigens of M. leprae.
Subject(s)
Leprosy/pathology , Peripheral Nervous System Diseases/microbiology , Adult , Anti-Inflammatory Agents/therapeutic use , Female , Histocytochemistry , Humans , Leprostatic Agents/therapeutic use , Leprosy/drug therapy , Male , Middle Aged , Peripheral Nerves/microbiology , Peripheral Nerves/pathology , Peripheral Nervous System Diseases/pathology , Prednisone/therapeutic useABSTRACT
Leprous neuropathy, which is due to infection of nerve cells by Mycobacterium leprae, still affects millions of people in many developing countries. The clinical and pathological manifestations are determined by the natural resistance of the host to invasion of M. Leprae. Failure of early detection of leprosy often leads to severe disability in spite of eradication of mycobacterium at a later date. In the lepromatous type, bacilli are easily found in the skin and in nerve cells including Schwann cells, endothelial cells, and macrophages. In the tuberculoid type, a strong cell-mediated immune reaction leads to formation of granulomas and destruction of cells harboring bacilli and neighboring nerve fibers. In many cases, treatment of patients with the multibacillary leprosy is complicated by reversal reaction and further nerve damage. Nerve lesions lead to a symmetrical, pseudo-polyneuritic pattern in most cases of lepromatous leprosy, which is usually associated with typical skin lesions, but pure neuritic forms occur in up to 10% of patients with lepromatous leprosy. In the pure neuropathic cases, only nerve biopsy permits diagnosis. The multifocal pattern is more common in tuberculoid leprosy. Treatment is currently based on multidrug therapy with dapsone, rifampicin, and clofazimine. The use of corticosteroids can reduce or prevent nerve damage in reversal reactions. It is important to remember that sequelae, especially sensory loss, are extremely common, which can lead to secondary trophic changes due to repeated trauma in painless areas.
Subject(s)
Leprosy/complications , Peripheral Nervous System Diseases/complications , Peripheral Nervous System Diseases/microbiology , Humans , Leprosy/diagnosis , Leprosy/epidemiology , Mycobacterium leprae/pathogenicity , Peripheral Nervous System Diseases/diagnosis , Peripheral Nervous System Diseases/epidemiologyABSTRACT
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.
Subject(s)
HIV Infections/complications , Motor Neuron Disease/etiology , Peripheral Nervous System Diseases/etiology , HIV Infections/drug therapy , Humans , Male , Middle AgedABSTRACT
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: Fasciculation's, motor neuron disease, and benign fasciculations in the Portuguese, English as well as Spanish language. Although fasciculation's 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 fasciculation's, especially due to the changes that this causes on the ionic channels. Fasciculation's 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 fasciculation's, with complete clinical remission of symptoms following complete tapering off of corticosteroid six months previously.
ABSTRACT
The Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease in the adulthood, and it is characterized by rapid and progressive compromise of the upper and lower motor neurons. The majority of the cases of ALS are classified as sporadic and, until now, a specific cause for these cases still is unknown. To present the different hypotheses on the etiology of ALS. It was carried out a search in the databases: Bireme, Scielo and Pubmed, in the period of 1987 to 2011, using the following keywords: Amyotrophic lateral sclerosis, motor neuron disease, etiology, causes and epidemiology and its similar in Portuguese and Spanish. It did not have consensus as regards the etiology of ALS. Researches demonstrates evidences as regards intoxication by heavy metals, environmental and occupational causes, genetic mutations (superoxide dismutase 1), certain viral infections and the accomplishment of vigorous physical activity for the development of the disease. There is still no consensus regarding the involved factors in the etiology of ALS. In this way, new research about these etiologies are necessary, for a better approach of the patients, promoting preventive programs for the disease and improving the quality of life of the patients.
ABSTRACT
OBJECTIVES: To evaluate the etiology of viral meningitis and encephalitis in adults and adolescents living in areas affected by dengue. METHODS: Over two years, adults and adolescents with diagnoses of viral encephalitis or meningitis were selected for study in Brazil. PCRs for dengue, enterovirus, HSV1 and 2 and cytomegalovirus were performed in CSF samples. Serum and CSF samples were tested for the presence of anti-dengue IgM antibodies. RESULTS: The etiologies of encephalitis and meningitis were determined in 70% of cases (30/47). Dengue was the leading cause of encephalitis (47%) with normal CSF cellularity in 75% of these patients. HSV1 was found in 17.6% of the cases, two of which had mild encephalitis. Enterovirus was the most common cause of meningitis (50%), followed by HSV1 (15%), cytomegalovirus and dengue (10%, each). CONCLUSIONS: We identified the viral agents causing encephalitis and meningitis in a higher proportion of cases than has been reported in other studies. Dengue was the most frequent cause of encephalitis, which surpassed HSV. In endemic areas, dengue should be investigated as an important cause of encephalitis. Normal CSF cellularity should not exclude dengue encephalitis. Enterovirus is known to be the leading cause of meningitis in children, but here we found it was also the main cause of the disease in adults. HSV1 should be investigated in patients with mild forms of encephalitis and meningitis.
Subject(s)
Dengue/epidemiology , Encephalitis, Viral/epidemiology , Encephalitis, Viral/etiology , Meningitis, Viral/epidemiology , Meningitis, Viral/etiology , Adolescent , Adult , Antibodies, Viral/analysis , Brazil/epidemiology , Child , Cytomegalovirus/genetics , Dengue Virus/genetics , Encephalitis, Viral/virology , Female , Herpesvirus 1, Human , Humans , Male , Meningitis, Viral/virology , Middle Aged , Prospective Studies , RNA, Viral/analysis , RNA, Viral/genetics , Reverse Transcriptase Polymerase Chain Reaction , Spinal Puncture , Young AdultABSTRACT
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 patient's 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.
Subject(s)
Antimanic Agents/adverse effects , Bipolar Disorder/drug therapy , Cerebellar Diseases/chemically induced , Lithium Compounds/adverse effects , Neurotoxicity Syndromes/etiology , Adult , Female , HumansABSTRACT
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.
Subject(s)
Brain Stem Infarctions/etiology , Brain Stem Infarctions/pathology , Hemiplegia/etiology , Medulla Oblongata/blood supply , Vertebral Artery Dissection/diagnosis , Adult , Humans , Magnetic Resonance Angiography , Male , Medulla Oblongata/pathology , Syndrome , Vertebral Artery Dissection/complications , Vertebral Artery Dissection/pathologyABSTRACT
PURPOSE OF REVIEW: Infectious neuropathy affects a large number of people worldwide. There is evidence of direct involvement of nerves by the infective agent, from the immune reaction of the patient or secondary to the toxicity of the drugs used during treatment. This group of neuropathies is often treatable or preventable. RECENT FINDINGS: There is a complex clinical picture of the neuropathy of leprosy, different pathological features and immunological mechanisms. If the skin is unaffected in leprosy it is not always easy to demonstrate that the neuropathy is due to leprosy. Peripheral neuropathy in patients with chronic infection with hepatitis C virus may be due to the virus, the development of vasculitis or direct neurotoxic effects of the treatment. Peripheral neuropathy has become the chief neurological syndrome in individuals infected with HIV-1. The antiretroviral therapies themselves can cause peripheral neuropathies clinically indistinguishable from those caused by the virus. The occurrence of chronic polyneuropathy as a late manifestation in Lyme disease is extremely rare and is not well understood. SUMMARY: Although infectious neuropathies are very frequent, mainly in developing countries, further studies are needed to elucidate their mechanisms of action, focusing on preventive interventions.
Subject(s)
HIV Infections/complications , Hepatitis C/complications , Leprosy/complications , Lyme Disease/complications , Peripheral Nervous System Diseases/etiology , Anti-Retroviral Agents/adverse effects , HIV Infections/physiopathology , Hepatitis C/physiopathology , Humans , Leprosy/physiopathology , Lyme Disease/physiopathology , Peripheral Nervous System Diseases/diagnosis , Peripheral Nervous System Diseases/physiopathologyABSTRACT
The Guilllain-Barré syndrome (GBS) is an acute predominantly demyelinating polyneuropathy. In many cases GBS is preceding by infection, immunization, surgery or trauma. Although there are a few reports of GBS after head trauma, there is no report of this syndrome after brachial plexus injury. We report on a 51 years-old man who presented GBS fifteen days after a brachial plexus trauma. The polineuropathy resolved completely in a few weeks. We believe that GBS was triggered by the trauma that evoked an immune mediated disorder producing inflammation and demyelination of the peripheral nerves.
Subject(s)
Brachial Plexus/injuries , Guillain-Barre Syndrome/etiology , Guillain-Barre Syndrome/drug therapy , Humans , Immunoglobulins, Intravenous/therapeutic use , Male , Middle Aged , Treatment OutcomeABSTRACT
Patients with leprosy may have only nerve involvement without skin changes. These cases are known as pure neural leprosy and can be seen in 10% of leprosy patients. Most patients have mononeuritic or multiple mononeuritic neuropathy patterns. The isolated lesion of the superficial peroneal nerve is uncommonly seen. We report a patient with involvement of this nerve in which there was no thickening of superficial nerves. The performed nerve biopsy showed inflammatory infiltration, loss of fibers and presence of Mycobacterium leprae. We believe that in prevalent leprosy countries we should take in mind the possibility of isolated pure neural leprosy in some patients without skin lesion. In these cases the diagnosis of leprosy is impossible on clinical grounds and nerve biopsy is mandatory.