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Cryptogenic neuropathy

Kumi Fujita, Kazuhiro Hatta
We had encountered the case of membranous glomerulonephritis (MGN) with dilated cardiomyopathy due to LMNA gene mutation. LMNA mutation was known as a cause of 'laminopathy' such as dilated cardiomyopathy, muscular dystrophy, neuropathy and so on. LMNA gene might be a candidate of genetic basis in cryptogenic MGN.
May 2018: CEN Case Reports
B Oyanguren, R Segoviano, E Alegria, E Besada, M Gonzalez-Salaices, M Eimil-Ortiz, C Lopez de Silanes
INTRODUCTION: Fabry's disease is an infrequent metabolic pathology linked to the X chromosome which causes a wide variety of signs and symptoms. CASE REPORT: A 39-year-old male who was admitted to our stroke unit with right-side hemiparesis (1 + 0) and dysarthria (1). The score on the National Institute of Health Stroke Scale was 2. The patient presented angiokeratomas in both thighs. A computerised axial tomography scan of the head showed left thalamic acute infarction...
May 16, 2017: Revista de Neurologia
Amro M Stino, Albert G Smith
Peripheral neuropathy is a major cause of disability worldwide. Diabetes is the most common cause of neuropathy, accounting for 50% of cases. Over half of people with diabetes develop neuropathy, and diabetic peripheral neuropathy (DPN) is a major cause of reduced quality of life due to pain, sensory loss, gait instability, fall-related injury, and foot ulceration and amputation. Most patients with non-diabetic neuropathy have cryptogenic sensory peripheral neuropathy (CSPN). A growing body of literature links prediabetes, obesity and metabolic syndrome to the risk of both DPN and CSPN...
September 2017: Journal of Diabetes Investigation
Anna L Emanuel, Mariska D Nieuwenhoff, Erica S Klaassen, Ajay Verma, Mark H H Kramer, Rob Strijers, Alexander F J E Vrancken, Etto Eringa, Geert Jan Groeneveld, Erik H Serné
OBJECTIVE: This study investigated whether the relationship between neuropathy and microvascular dysfunction in patients with type 2 diabetes is independent of diabetes-related factors. For this purpose, we compared skin microvascular function in patients with type 2 diabetes with that of patients with cryptogenic axonal polyneuropathy (CAP), a polyneuropathy of unknown etiology. RESEARCH DESIGN AND METHODS: Cross-sectional information was collected from 16 healthy controls (HCs), 16 patients with CAP, 15 patients with type 2 diabetes with polyneuropathy (DPN), and 11 patients with type 2 diabetes without polyneuropathy...
April 2017: Diabetes Care
Panagiotis Zis, Ptolemaios Georgios Sarrigiannis, Dasappaiah Ganesh Rao, Channa Hewamadduma, Marios Hadjivassiliou
Chronic idiopathic axonal polyneuropathy (CIAP) is a term describing neuropathies with both sensory and motor involvement in a length dependant distribution where neurophysiology reveals axonal damage, neuropathy onset is insidious and shows slow or no progression of the disease over at least 6 months with no aetiology being identified despite appropriate investigations. This entity merits further consideration given how common it is, the absence of clarity regarding aetiopathogenesis, natural history and therapies...
October 2016: Journal of Neurology
Sanjay Pandey
Painful leg and moving toes (PLMT) syndrome is a distinct clinical entity and in majority of the patients there are some underlying causes related to spinal cord, cauda equina, or peripheral neuropathy. However, some cases are cryptogenic with no identifiable underlying cause. Response to treatment is disappointing in most of the cases. We report a 60-year-old lady who presented with very severe type of painful legs and moving toes (PLMT) with no underlying cause.
October 2015: Annals of Indian Academy of Neurology
Partha Pal, Sayantan Ray, Sisir Kumar Patra, Anjan Kumar Das, Subhasis Dey, Rintu George
Authors describe the case of a 60-year-old diabetic man who presented with jaundice, ascites and significant weight loss over a period of 2 months. Physical examination revealed firm hepatomegaly with ascites. On evaluation, nephropathy, axonal neuropathy, carpal tunnel syndrome and decompensated cryptogenic liver disease with portal hypertension were found fitting with the diagnosis of diabetic nephropathy and neuropathy and nonalcoholic steato-hepatitis-associated cirrhosis, respectively. It was only after tissue diagnosis and serum protein electrophoresis that a definitive diagnosis of myeloma-related amyloidosis was made...
April 2015: Oxford Medical Case Reports
Michael Schelleckes, Malte Lenders, Katrin Guske, Boris Schmitz, Christian Tanislav, Sonja Ständer, Dieter Metze, Istvan Katona, Joachim Weis, Stefan-Martin Brand, Thomas Duning, Eva Brand
BACKGROUND: Fabry disease (FD) is a multisystemic disorder with typical neurological manifestations such as stroke and small fiber neuropathy (SFN), caused by mutations of the alpha-galactosidase A (GLA) gene. We analyzed 15 patients carrying the GLA haplotype -10C>T [rs2071225], IVS2-81_-77delCAGCC [rs5903184], IVS4-16A>G [rs2071397], and IVS6-22C>T [rs2071228] for potential neurological manifestations. METHODS AND RESULTS: Patients were retrospectively analyzed for stroke, transient ischemic attack (TIA), white matter lesions (WML) and SFN with neuropathic pain...
2014: Orphanet Journal of Rare Diseases
Mamatha Pasnoor, Mazen M Dimachkie, Richard J Barohn
Chronic sensory or sensorimotor polyneuropathy is a common cause for referral to neurologists. Despite extensive diagnostic testing, up to one-third of these patients remain without a known cause, and are referred to as having cryptogenic sensory peripheral neuropathy. Symptoms progress slowly. On examination, there may be additional mild toe flexion and extension weakness. Electrophysiologic testing and histology reveals axonal neuropathy. Prognosis is usually favorable, as most patients maintain independent ambulation...
May 2013: Neurologic Clinics
Mamatha Pasnoor, Osvaldo J M Nascimento, Jaya Trivedi, Gil I Wolfe, Sharon Nations, Laura Herbelin, M G de Freitas, Giseli Quintanilha, Saud Khan, Mazen Dimachkie, Richard Barohn
Peripheral neuropathy is a common neurological disorder. There may be important differences and similarities in the diagnosis of peripheral neuropathy between North America (NA) and South America (SA). Neuromuscular databases were searched for neuropathy diagnosis at two North American sites, University of Kansas Medical Center and University of Texas Southwestern Medical Center, and one South American site, Federal Fluminense University in Brazil. All patients were included into one of the six major categories: immune-mediated, diabetic, hereditary, infectious/inflammatory, systemic/metabolic/toxic (not diabetic) and cryptogenic...
August 2013: International Journal of Neuroscience
Antonino Tuttolomondo, Rosaria Pecoraro, Irene Simonetta, Salvatore Miceli, Valentina Arnao, Giuseppe Licata, Antonio Pinto
Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma, corneal opacity, hypo/ and anhidrosis, gastrointestinal symptoms, renal and cardiac dysfunctions can occur in male and female patients, although heterozygous females with AFD usually seem to be less severely affected. The most prominent CNS manifestations consist of cerebrovascular events such as transient ischaemic attacks (TIAs) and (recurrent) strokes. For the most part, CNS complications in AFD have been attributed to cerebral vasculopathy, including anatomical abnormalities...
2013: Current Pharmaceutical Design
Anhar Hassan, Farrah J Mateen, Elizabeth A Coon, J Eric Ahlskog
OBJECTIVE: To better characterize the clinical features, electrophysiologic features, and treatment outcomes of painful legs and moving toes (PLMT) syndrome. DESIGN: Large case series. SETTING: Neurology outpatient clinic at a tertiary referral center, 1983-2011. PATIENTS: All cases of PLMT seen at our institution during an 18-year period were identified using our medical record linkage system. MAIN OUTCOME MEASURES: Key demographic, clinical, imaging, and electrophysiologic features of PLMT...
August 2012: Archives of Neurology
Jonas Lindh, Peter Söderkvist, Mats Fredrikson, Shahrzad Hosseininia, Martin Tondel, Bodil Persson, Magnus Vrethem
The aim of this study was to analyze whether polymorphisms for the null alleles of Glutathione S-Transferase Mu-1 (GSTM1), Glutathione S-Transferase Theta-1 (GSTT1), and a low-activity genetic variation of epoxide hydrolase exon three (EPHX*3) affect the risk of developing polyneuropathy. The enzymes of these genes are important in the metabolism of toxic compounds. Seventy-nine patients with cryptogenic polyneuropathy (equivalent to chronic idiopathic axonal neuropathy) and 398 controls were tested for the genetic polymorphism...
November 2011: Brain and Behavior
Manoj Mittal, Mamatha Pasnoor, Reddiah B Mummaneni, Saud Khan, April McVey, David Saperstein, Laura Herbelin, Larry Ridings, Yunxia Wang, Mazen M Dimachkie, Richard J Barohn
The primary aims of our study were to compare pregabalin and duloxetine in a neuromuscular clinic for diabetic neuropathic pain (DPN) and to study the effect of these medications in cryptogenic sensory polyneuropathy. We performed a retrospective chart review of 143 patients who were started on pregabalin or duloxetine during a 10-month period in a tertiary neuromuscular outpatient center for neuropathic pain. Duloxetine and pregabalin were started in 103 and 91 patients, respectively. Ninety-two patients tried only one of the two medications while both medications were used at different time periods in 51 patients...
September 2011: International Journal of Neuroscience
K Sendrowski, W Sobaniec, L Boćkowski, W Kułak, J Smigielska-Kuzia
PURPOSE: Data from the literature suggest that long-term therapy with various antiepileptic drugs can be responsible for the functional disturbances within the nervous system e.g. peripheral neuropathy and encephalopathy. Useful and non-invasive instruments for evaluation of even subclinical nerve conduction abnormalities in somatosensory tracts are somatosensory evoked potentials (SEPs). The aim of this study was to assess the potentially drug-induced abnormalities in the SEP parameters in epileptic children, treated chronically in monotherapy with one of the two most often used antiepileptic drugs: valproate (VPA) or carbamazepine (CBZ)...
2010: Advances in Medical Sciences
Bassam Doujaiji, Jaffar A Al-Tawfiq
Hydrogen sulfide (H(2)S) is responsible for many incidents of occupational toxic exposure, especially in the petroleum industry. The clinical effects of H(2)S depend on its concentration and the duration of exposure. H(2)S is immediately fatal when concentrations are over 500-1000 parts per million (ppm) but exposure to lower concentrations, such as 10-500 ppm, can cause various respiratory symptoms that range from rhinitis to acute respiratory failure. H(2)S may also affect multiple organs, causing temporary or permanent derangements in the nervous, cardiovascular, renal, hepatic, and hematological systems...
January 2010: Annals of Saudi Medicine
J D England, G S Gronseth, G Franklin, G T Carter, L J Kinsella, J A Cohen, A K Asbury, K Szigeti, J R Lupski, N Latov, R A Lewis, P A Low, M A Fisher, D N Herrmann, J F Howard, G Lauria, R G Miller, M Polydefkis, A J Sumner
BACKGROUND: Distal symmetric polyneuropathy (DSP) is the most common variety of neuropathy. Since the evaluation of this disorder is not standardized, the available literature was reviewed to provide evidence-based guidelines regarding the role of laboratory and genetic tests for the assessment of DSP. METHODS: A literature review using MEDLINE, EMBASE, Science Citation Index and Current Contents was performed to identify the best evidence regarding the evaluation of polyneuropathy published between 1980 and March 2007...
January 2009: PM & R: the Journal of Injury, Function, and Rehabilitation
Jonathan Rutchik
The Occupational Medicine Forum is prepared by the ACOEM Occupational and Environmental Medical Practice Committee and does not necessarily represent an official ACOEM position. The Forum is intended for health professionals and is not intended to provide medical or legal advice, including illness prevention, diagnosis or treatment, or regulatory compliance. Such advice should be obtained directly from a physician and/or attorney. Inquiries and contributions to the Forum should be forwarded to Joseph J. Schwerha, MD, MPH by e-mail at schwer@pitt...
May 2009: Journal of Occupational and Environmental Medicine
A Fellgiebel, I Keller, D Marin, M J Müller, I Schermuly, I Yakushev, J Albrecht, H Bellhäuser, M Kinateder, M Beck, P Stoeter
BACKGROUND: Neurologic hallmarks of Fabry disease (FD) include small fiber neuropathy as well as cerebral micro- and macroangiopathy with premature stroke. Cranial MRI shows progressive white matter lesions (WML) at an early age, increased signal intensity in the pulvinar, and tortuosity and dilatation of the larger vessels. To unravel the most promising imaging tool for the detection of CNS involvement in FD we compared the diagnostic utility of the different MR imaging findings. METHODS: Twenty-five clinically affected patients with FD (age 36...
January 6, 2009: Neurology
J D England, G S Gronseth, G Franklin, G T Carter, L J Kinsella, J A Cohen, A K Asbury, K Szigeti, J R Lupski, N Latov, R A Lewis, P A Low, M A Fisher, D Herrmann, J F Howard, G Lauria, R G Miller, M Polydefkis, A J Sumner
Distal symmetric polyneuropathy (DSP) is the most common variety of neuropathy. Since the evaluation of this disorder is not standardized, the available literature was reviewed to provide evidence-based guidelines regarding the role of laboratory and genetic tests for the assessment of DSP. A literature review using MEDLINE, EMBASE, Science Citation Index, and Current Contents was performed to identify the best evidence regarding the evaluation of polyneuropathy published between 1980 and March 2007. Articles were classified according to a four-tiered level of evidence scheme and recommendations were based on the level of evidence...
January 2009: Muscle & Nerve
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