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P627: Is precautionary neurophysiological monitoring useful for beta-thalassemia patients?
Abstracts of Poster Presentations / Clinical Neurophysiology 125, Supplement 1 (2014) S1–S339
tool in the assessment of traumatic nerve lesions. Sometimes in traumatic nerve lesions multiple site damages can be observed. To identify cases of traumatic double site radial nerve involvement assessed through US. Methods: We retrospectively evaluated 36 patients admitted to our neurophysiology lab from January 2010 to March 2013 for traumatic radial nerve lesions following humeral fractures. All those patients underwent clinical, electrodiagnostic and sonographic evaluation. Results: In 14 patients a double site involvement of radial and posterior interosseous nerve was observed through US. Conclusions: Multiple site nerve lesions following a trauma can be suspected based on clinical evaluation (presence of non homogeneous motor or sensory deficit) but are difficult to demonstrate through electrodiagnostic assessment. US can help to detect unexpected nerve impairment and can help identify multiple site traumatic nerve lesions showing that they are often more frequent than we can diagnose with neurophysiology alone.
P625 Multimodal assessment of small fiber neuropathy: laser evoked potentials or skin biopsy? C. Créac’h 1,2 , J.-P. Camdessanche 3 , F. Robert 3 , J.-C. Antoine 3 , R. Peyron 1,2 , P. Convers 2,3 1 CHU Saint-Etienne, Pain Center, Saint-Etienne, France; 2 Inserm 1028-Central Integration of Pain Lab, Centre for Neurosciences, Lyon & Saint-Etienne, France; 3 CHU Saint-Etienne, Neurology, Saint-Etienne, France Question: Laser Evoked Potentials (LEPs) and Skin Biopsy (SB) are both considered as reliable methods for assessing a diagnosis of Small Fiber Neuropathy (SFN). The issue is whether these two methods are redundant or not. Methods: We selected 67 patients (42F, 25M; 54±14 years) with probable pure painful SFN including the feet. All of them had thermo-algesic hypesthesia (either observed clinically or confirmed by quantitative sensory testing). LEPs was considered as abnormal if N2P2 was abnormal on at least 2 areas out of the 8 explored (third cervical dermatoma, hands, thighs, feet). SB was considered as abnormal if the density of intra-epidermal nerve fibers (IENFD) was abnormal either on proximal (thighs) or distal (leg) areas. We compared the sensitivity of these techniques and explored clinical factors that may predict these results. Results: Only 58% of patients had abnormal IENFD while 79% of patients had abnormal LEPs. The concordancy between SB and LEPs was 55% on proximal areas and 51% on distal areas. There was 2.5 fold more patients with abnormal LEPs and normal SB than patients with normal LEPs and abnormal SB (23 vs 9 patients). These results were not explained by the length-dependent characteristics of SFN nor by the duration of pain evolution. Burning pain was the only clinical factor predicting abnormal SB (OR=4.1; p=0.024). Conclusions: The discrepancies between LEPs and SB may provide in part from differential lesions of A delta and C fibers. In practice we may recommend to record LEPs in a first approach in case of expected painful pure SFN.
P627 Is precautionary neurophysiological monitoring useful for beta-thalassemia patients? P. Nemtsas 1 , V. Perifanis 2 , E. Koutsouraki 1 , A. Orologas 1 , M. Arnaoutoglou 1 1 University General Hospital of Thessaloniki AHEPA, 1st Department of Neurology, Thessaloniki, Greece; 2 University General Hospital of Thessaloniki AHEPA, First Propedeutic Department of Internal Medicine, Thessaloniki, Greece The thalassemias are the most common single gene disorder in the world. Over the last years, a limited number of studies, mainly in children, have demonstrated a mild peripheral neuropathy in b-thalassemia patients. Chronic hypoxia, iron overload, desferrioxamine (DFO) neurotoxicity and bone marrow expansion are implicated, but sufficient explanatory evidence and biomarkers development is envisaged. We perform motor conduction studies of the median, ulnar, peroneal and tibial nerves, as well as sensory conduction studies of the median, ulnar, peroneal and sural nerves in adults. For the first time to our knowledge, we use extended EMG studies (brachioradialis, abductor digiti quinti (hand), extensors carpi radialis, anterior tibialis, quadriceps rectus femoris) to reveal and better analyze peripheral neuropathy in these patients. Our findings are correlated with the history, the laboratory findings and the medication followed. As life expectancy
S219
for b-thalassemia patients extends, we support the use of neurophysiologic monitoring in order to achieve the appropriate management and as a result a better life quality for this patient group.
P628 Electrophysiological data of DSMA1 patients in the Netherlands X. Stalpers 1 , A. Verrips 1 , B.-T. Poll-The 2 , J.M. Cobben 3 , I. Snoeck 4 , I. de Coo 5 , A. Brooks 6 , S. Bulk 7 , R. Gooskens 8 , A. Fock 9 , C. Verschuuren-Bemelmans 10 , R. Sinke 10 , M. de Visser 11 , H. Lemmink 10 1 Canisius Wilhelmina Hospital, Neurology, Nijmegen, Netherlands; 2 Emma Children’s Hospital, Academic Medical Center, Pediatric Neurology, Amsterdam, Netherlands; 3 Emma Children’s Hospital, Academic Medical Center, Pediatric Genetics, Amsterdam, Netherlands; 4 Juliana Children’s Hospital, Pediatrics, The Hague, Netherlands; 5 Erasmus Medical Center, Neurology, Rotterdam, Netherlands; 6 Erasmus Medical Center, Clinical Genetics, Rotterdam, Netherlands; 7 Wilhelmina Children’s Hospital, University Medical Center Utrecht, Medical Genetics, Utrecht, Netherlands; 8 Wilhelmina Children’s Hospital, University Medical Center Utrecht, Neurology, Utrecht, Netherlands; 9 University Medical Center Groningen, Neurology, Groningen, Netherlands; 10 University Medical Center Groningen, Genetics, Groningen, Netherlands; 11 Academic Medical Center, Neurology, Amsterdam, Netherlands Question: What are characteristic electrophysiological findings in DSMA1 patients? Background: Distal spinal muscular atrophy type 1 (DSMA1) is a rare disorder with distal muscle weakness, hypotonia and early respiratory difficulties as most striking symptoms. The pathophysiology is unknown. Some think the anterior horn cell is primarily affected, followed by degeneration of axons, others think it is vice versa. The former is supported by spinal cord autopsy data and findings in the animal model, the latter is supported by sural nerve biopsies and the early and severe changes in nerve conduction studies. Methods: We collected electrophysiological data of 10 Dutch DSMA1 patients. Results: Electrophysiological findings showed mostly reduced or absent compound muscle action potential (CMAP) and sensory nerve action potential (SNAP) amplitudes. Nerve conduction velocities are markedly reduced and could be in the demyelinating range. Distal motor latency (DML) was generally not in the demyelinating range, considering CMAP amplitudes below 1mV being less trustworthy. None of the patients showed evidence for conduction block. Electromyography could be normal or show spontaneous muscle fiber activity and reinnervation. Electrodiagnostic findings best fit an axonal neuropathy (Table 1, see p. S220). Conclusions: In these 10 Dutch DSMA1 patients, electrodiagnostic findings suggest a severe axonal neuropathy. Our findings make the anterior horn cell as the primary site of the disorder less likely. References: Diers A, Kaczinski M, Grohmann K, et al. The ultrastructure of peripheral nerve, motor-end plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1). Acta Neuropathol 2005;110;289-97.
P629 A neurophysiological study of A-delta fibres in demyelinating and axonal polyneuropathies through cutaneous silent period recordings D. Lopergolo 1 , B. Isak 1,2 , M. Gabriele 1 , E. Onesti 1 , G. Tartaglia 1 , A. Biasiotta 1 , S. La Cesa 1 , G. Di Stefano 1 , A. Truini 1 , M. Inghilleri 1 1 “Sapienza” University of Rome, Department of Neurology and Psychiatry, Rome, Italy; 2 Marmara University, Istanbul, Turkey Introduction: Cutaneous silent period (CSP) is a brief pause in voluntary muscle contraction following noxious cutaneous nerve stimulation which allows to study small myelinated fibres. We investigated CSP in patients with demyelinating or axonal polyneuropathy (PNP) in order to evaluate the involvement of A-delta fibres. Furthermore we estimated the correlation of CSP parameters with presence of neuropathic pain in these group of patients. Materials and methods: Eighty demyelinating PNP patients, 178 axonal PNP patients and 265 healthy controls underwent clinical [neurological examination, Medical Research Council Score, DN4 Questionnaire] and electrophysiological [motor root conduction time (MRCT), compound muscle action potentials (CMAP), sensory nerve action potentials (SNAP) and CSP
tool in the assessment of traumatic nerve lesions. Sometimes in traumatic nerve lesions multiple site damages can be observed. To identify cases of traumatic double site radial nerve involvement assessed through US. Methods: We retrospectively evaluated 36 patients admitted to our neurophysiology lab from January 2010 to March 2013 for traumatic radial nerve lesions following humeral fractures. All those patients underwent clinical, electrodiagnostic and sonographic evaluation. Results: In 14 patients a double site involvement of radial and posterior interosseous nerve was observed through US. Conclusions: Multiple site nerve lesions following a trauma can be suspected based on clinical evaluation (presence of non homogeneous motor or sensory deficit) but are difficult to demonstrate through electrodiagnostic assessment. US can help to detect unexpected nerve impairment and can help identify multiple site traumatic nerve lesions showing that they are often more frequent than we can diagnose with neurophysiology alone.
P625 Multimodal assessment of small fiber neuropathy: laser evoked potentials or skin biopsy? C. Créac’h 1,2 , J.-P. Camdessanche 3 , F. Robert 3 , J.-C. Antoine 3 , R. Peyron 1,2 , P. Convers 2,3 1 CHU Saint-Etienne, Pain Center, Saint-Etienne, France; 2 Inserm 1028-Central Integration of Pain Lab, Centre for Neurosciences, Lyon & Saint-Etienne, France; 3 CHU Saint-Etienne, Neurology, Saint-Etienne, France Question: Laser Evoked Potentials (LEPs) and Skin Biopsy (SB) are both considered as reliable methods for assessing a diagnosis of Small Fiber Neuropathy (SFN). The issue is whether these two methods are redundant or not. Methods: We selected 67 patients (42F, 25M; 54±14 years) with probable pure painful SFN including the feet. All of them had thermo-algesic hypesthesia (either observed clinically or confirmed by quantitative sensory testing). LEPs was considered as abnormal if N2P2 was abnormal on at least 2 areas out of the 8 explored (third cervical dermatoma, hands, thighs, feet). SB was considered as abnormal if the density of intra-epidermal nerve fibers (IENFD) was abnormal either on proximal (thighs) or distal (leg) areas. We compared the sensitivity of these techniques and explored clinical factors that may predict these results. Results: Only 58% of patients had abnormal IENFD while 79% of patients had abnormal LEPs. The concordancy between SB and LEPs was 55% on proximal areas and 51% on distal areas. There was 2.5 fold more patients with abnormal LEPs and normal SB than patients with normal LEPs and abnormal SB (23 vs 9 patients). These results were not explained by the length-dependent characteristics of SFN nor by the duration of pain evolution. Burning pain was the only clinical factor predicting abnormal SB (OR=4.1; p=0.024). Conclusions: The discrepancies between LEPs and SB may provide in part from differential lesions of A delta and C fibers. In practice we may recommend to record LEPs in a first approach in case of expected painful pure SFN.
P627 Is precautionary neurophysiological monitoring useful for beta-thalassemia patients? P. Nemtsas 1 , V. Perifanis 2 , E. Koutsouraki 1 , A. Orologas 1 , M. Arnaoutoglou 1 1 University General Hospital of Thessaloniki AHEPA, 1st Department of Neurology, Thessaloniki, Greece; 2 University General Hospital of Thessaloniki AHEPA, First Propedeutic Department of Internal Medicine, Thessaloniki, Greece The thalassemias are the most common single gene disorder in the world. Over the last years, a limited number of studies, mainly in children, have demonstrated a mild peripheral neuropathy in b-thalassemia patients. Chronic hypoxia, iron overload, desferrioxamine (DFO) neurotoxicity and bone marrow expansion are implicated, but sufficient explanatory evidence and biomarkers development is envisaged. We perform motor conduction studies of the median, ulnar, peroneal and tibial nerves, as well as sensory conduction studies of the median, ulnar, peroneal and sural nerves in adults. For the first time to our knowledge, we use extended EMG studies (brachioradialis, abductor digiti quinti (hand), extensors carpi radialis, anterior tibialis, quadriceps rectus femoris) to reveal and better analyze peripheral neuropathy in these patients. Our findings are correlated with the history, the laboratory findings and the medication followed. As life expectancy
S219
for b-thalassemia patients extends, we support the use of neurophysiologic monitoring in order to achieve the appropriate management and as a result a better life quality for this patient group.
P628 Electrophysiological data of DSMA1 patients in the Netherlands X. Stalpers 1 , A. Verrips 1 , B.-T. Poll-The 2 , J.M. Cobben 3 , I. Snoeck 4 , I. de Coo 5 , A. Brooks 6 , S. Bulk 7 , R. Gooskens 8 , A. Fock 9 , C. Verschuuren-Bemelmans 10 , R. Sinke 10 , M. de Visser 11 , H. Lemmink 10 1 Canisius Wilhelmina Hospital, Neurology, Nijmegen, Netherlands; 2 Emma Children’s Hospital, Academic Medical Center, Pediatric Neurology, Amsterdam, Netherlands; 3 Emma Children’s Hospital, Academic Medical Center, Pediatric Genetics, Amsterdam, Netherlands; 4 Juliana Children’s Hospital, Pediatrics, The Hague, Netherlands; 5 Erasmus Medical Center, Neurology, Rotterdam, Netherlands; 6 Erasmus Medical Center, Clinical Genetics, Rotterdam, Netherlands; 7 Wilhelmina Children’s Hospital, University Medical Center Utrecht, Medical Genetics, Utrecht, Netherlands; 8 Wilhelmina Children’s Hospital, University Medical Center Utrecht, Neurology, Utrecht, Netherlands; 9 University Medical Center Groningen, Neurology, Groningen, Netherlands; 10 University Medical Center Groningen, Genetics, Groningen, Netherlands; 11 Academic Medical Center, Neurology, Amsterdam, Netherlands Question: What are characteristic electrophysiological findings in DSMA1 patients? Background: Distal spinal muscular atrophy type 1 (DSMA1) is a rare disorder with distal muscle weakness, hypotonia and early respiratory difficulties as most striking symptoms. The pathophysiology is unknown. Some think the anterior horn cell is primarily affected, followed by degeneration of axons, others think it is vice versa. The former is supported by spinal cord autopsy data and findings in the animal model, the latter is supported by sural nerve biopsies and the early and severe changes in nerve conduction studies. Methods: We collected electrophysiological data of 10 Dutch DSMA1 patients. Results: Electrophysiological findings showed mostly reduced or absent compound muscle action potential (CMAP) and sensory nerve action potential (SNAP) amplitudes. Nerve conduction velocities are markedly reduced and could be in the demyelinating range. Distal motor latency (DML) was generally not in the demyelinating range, considering CMAP amplitudes below 1mV being less trustworthy. None of the patients showed evidence for conduction block. Electromyography could be normal or show spontaneous muscle fiber activity and reinnervation. Electrodiagnostic findings best fit an axonal neuropathy (Table 1, see p. S220). Conclusions: In these 10 Dutch DSMA1 patients, electrodiagnostic findings suggest a severe axonal neuropathy. Our findings make the anterior horn cell as the primary site of the disorder less likely. References: Diers A, Kaczinski M, Grohmann K, et al. The ultrastructure of peripheral nerve, motor-end plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1). Acta Neuropathol 2005;110;289-97.
P629 A neurophysiological study of A-delta fibres in demyelinating and axonal polyneuropathies through cutaneous silent period recordings D. Lopergolo 1 , B. Isak 1,2 , M. Gabriele 1 , E. Onesti 1 , G. Tartaglia 1 , A. Biasiotta 1 , S. La Cesa 1 , G. Di Stefano 1 , A. Truini 1 , M. Inghilleri 1 1 “Sapienza” University of Rome, Department of Neurology and Psychiatry, Rome, Italy; 2 Marmara University, Istanbul, Turkey Introduction: Cutaneous silent period (CSP) is a brief pause in voluntary muscle contraction following noxious cutaneous nerve stimulation which allows to study small myelinated fibres. We investigated CSP in patients with demyelinating or axonal polyneuropathy (PNP) in order to evaluate the involvement of A-delta fibres. Furthermore we estimated the correlation of CSP parameters with presence of neuropathic pain in these group of patients. Materials and methods: Eighty demyelinating PNP patients, 178 axonal PNP patients and 265 healthy controls underwent clinical [neurological examination, Medical Research Council Score, DN4 Questionnaire] and electrophysiological [motor root conduction time (MRCT), compound muscle action potentials (CMAP), sensory nerve action potentials (SNAP) and CSP