Neuropatia

INTRODUCTION: Charcot-Marie-Tooth (CMT) disease is classified considering the neurophysiological and histological findings, the inheritance pattern and the underlying genetic defect. In recent years, with the advent of next generation sequencing, genetic complexity has increased exponentially, expanding the knowledge about disease pathways, and having an impact in clinical management. The aim of this guide is to offer recommendations for the diagnosis, prognosis, monitoring and treatment of this disease in Spain...

BACKGROUND:  Patients with anti-MAG neuropathy present with distal demyelinating polyneuropathy, IgM monoclonal gammopathy, and elevated titers of anti-MAG antibodies. OBJECTIVE:  This paper reviews what is known about the clinical presentation, course, pathophysiology, and treatment of anti-MAG neuropathy, with considerations for the design of therapeutic trials. METHODS:  A literature review of the medical and scientific literature related to anti-MAG neuropathy, and the design of therapeutic clinical trials in peripheral neuropathy...

Intraneural ganglion cysts are very uncommon lesions, whose diagnosis has increased since the articular theory and the description of the MRI findings were established. We present a case report of a 59-year-old man with symptoms of tarsal tunnel syndrome. Foot and ankle MRI demonstrated the presence of an intraneural cystic lesion in the posterior tibial neve and its connection with the subtalar joint through an articular branch. The identification of the specific radiological signs like the «signet ring sign» allowed establishing an adequate preoperative diagnosis, differentiating it from an extraneural lesion and facilitating the articular disconnection of the nerve branch during surgery...

Defined as the unpleasant sensation that causes the desire to scratch, pruritus is the most common skin symptom associated with uremia and appears in almost half of patients with advanced chronic kidney disease (CKD). Beyond its direct impact on quality of life, CKD-associated pruritus (CKD-aP) is an independent predictor of mortality that also has a synergistic effect with other quality of life-related symptoms, such as insomnia, depression, and anxiety. Although different mechanisms have been proposed to explain the origin of Pa-ERC, its etiopathogenesis is still not fully understood...

BACKGROUND: The 6-minute step test (6MST) has begun to be used as a simple and effective alternative for assessing functional exercise capacity. There is no study using 6MSTs to evaluate the exercise capacities of patients with type 2 diabetes mellitus (DM) with and without diabetic peripheral neuropathy (DPN). OBJECTIVE: To compare the cardiorespiratory responses of the 6-minute walk test (MWT) and the 6MST exercise tests and to analyze the usability of the 6MST in Type 2 DM patients with and without neuropathy...

INTRODUCTION: Trigeminal neuralgia (TN) is a chronic neuropathic pain disorder affecting one or more branches of the trigeminal nerve. Despite its relatively low global prevalence, TN is an important healthcare problem both in neurology departments and in emergency departments due to the difficulty of diagnosing and treating the condition and its significant impact on patients' quality of life. For all these reasons, the Spanish Society of Neurology's Headache Study Group has developed a consensus statement on the management of TN...

INTRODUCTION: Multifocal motor neuropathy (MMN) is a chronic progressive immune-mediated neuropathy, predominantly involving upper limbs asymmetrically with electrophysiologic evidence of motor conduction block. The treatment of choice is immunoglobulin (Ig). Nevertheless, some patients may become resistant to treatment. We describe a patient with history of MMN who became resistant to gammaglobulin treatment but markedly improved using ultra-high doses of intravenous immunoglobulin. CASE REPORT: A 36-year-old woman with diagnosis of MMN...

No abstract text is available yet for this article.

OBJECTIVE: Peripheral neuropathy and onycholysis are adverse events produced by taxanes in breast cancer that persist even after the end of treatment and negatively influence quality of life. The objectives of the study were to describe these side effects and the degree of involvement and relating them to the drug doses received. METHODS: Prospective, cross-sectional study of in 50 womens dignosed of breast cancer, treated with docetaxel and paclitaxel in Hospital Universitario Miguel Servet in Zaragoza (Aragón, Spain)...

INTRODUCTION: Sensory ataxia is a frequent symptom in numerous neurological pathologies, being a frequent clinical manifestation in diseases related to genes influencing mitochondrial metabolism, such as POLG. The aim is to describe the differential characteristics of four patients with pathogenic variants in the POLG gene with clinical expression in the form of adult-onset ataxia and sensory neuropathy. PATIENTS AND METHODS: We reviewed the clinical features of patients diagnosed with POLG pathogenic variants from a tertiary hospital...

No abstract text is available yet for this article.

BACKGROUND & OBJECTIVE: Diabetic peripheral neuropathy (DPN) is considered to be a risk factor for development of sarcopenia. Therefore, our study aimed to detect the association between peripheral neuropathy with skeletal muscle mass and function in type two diabetes mellitus (T2DM) patients. METHODS: A total of 176 participants, ≥45 years were included in the study. Out of 176, 60 were healthy volunteers, 60 had T2DM without neuropathy, 56 had T2DM with neuropathy...

BACKGROUND: Cutaneous silent period (CSP) is the interruption in muscle activity after painful stimulation of a sensory nerve. OBJECTIVE: The aim of the present study is to assess CSP changes in patients with polyneuropathy (PNP). METHODS: The present study was carried out to assess CSP in individuals with diabetes (DM) and Charcot-Marie-Tooth (CMT) disease. The sample comprised 24 individuals with DM, 10 individuals with CMT1 disease, and 10 individuals with CMT2 disease...

No abstract text is available yet for this article.

Transthyretin familial amyloid polyneuropathy (FAP) is a rare autosomal dominant disease that provokes systemic deposition of amyloid. It affects the nervous system and it is characterized by progressive sensory, motor, and autonomic neuropathy. Patients with FAP often require surgery and anesthetic care for hepatic transplantation and cardioverter-defibrillator/pacemaker implantation. Peripheric neuropathy is a common finding, but there are no reported cases of its interference with anesthetic neuromuscular transmission monitoring...

Guillain-Barré syndrome (GBS) is characterized by rapidly progressive and generally ascending symmetrical muscle weakness, accompanied by decreased or absent osteotendinous reflexes. The inflammatory process may affect the myelin or the axon. There are 4 clinical forms of GBS: 1) acute inflammatory demyelinating polyradiculoneuropathy, 2) acute motor axonal neuropathy, 3) acute sensory and motor axonal neuropathy, and 4) the Miller-Fisher variant, which is characterized by ophthalmoplegia, ataxia and areflexia, with little muscle weakness...

INTRODUCTION: Neuroleukemia is a rare disorder of the peripheral nervous system due to leukemic cell infiltration. CASE REPORT: We present the case of a 34-year-old patient with history of acute myelomonoblastic leukemia in remission that presented progressive paresis of the right median, bilateral facial, and left peroneal nerves. The electromyogram confirmed the diagnosis of multineuropathy. A PET-CT showed hypermetabolism of both sciatic, facial, and right median nerves...

Laryngeal neuropathy (LN) is characterized by hypersensitivity, hyperresponsiveness, and laryngeal hyperfunction secondary to an imbalance between the afferent and efferent components. The indi vidual and exaggerated response to a wide variety of specific triggers can lead to diverse symptoms. Literature in children is limited. OBJECTIVE: To report a case of laryngeal neuropathy in a 5-year- old girl, to discuss the approach from the otolaryngologist's and speech therapist's perspective and the importance of its consideration among the differential diagnoses of chronic cough in pediatrics...

BACKGROUND: To validate objectively the proposed Teherán-Morales's color grading scale, comparing to the subjective readings of specialists in optic nerve photography. METHODS: Concordance study and diagnostic tests, in which 150 photographs of the optic nerve were evaluated, from three groups, glaucomatous neuropathy, neuropathy of other origin and control group with the Teherán-Morales's color scale and the analysis of three experts in optic nerve. Spearman's Rho correlation was performed between both analysis methods...

INTRODUCTION: Cadmium is an important heavy metal in neurobiology, with potential neurotoxic effects, often in the form of polyneuropathy (PNP). Case repport. We present an exceptional case of PNP due to cadmium of toxic-occupational origin, specifically a 47-year-old man, aeronautical mechanic, with a 5-year clinical picture, consisting of a tingling sensation having a 'glove and stocking' distribution of symptoms and bimanual manipulative clumsiness. The neurological examination revealed bilateral achilles hyporeflexia and protopathic-thermal-algesic exteroceptive hypoesthesia in hands and feet...