Parsonage-Turner syndrome (PTS) is a relatively rare cause of upper extremity weakness and pain. ... more Parsonage-Turner syndrome (PTS) is a relatively rare cause of upper extremity weakness and pain. There is currently no effective treatment for PTS although corticosteroids are recommended. Here we report the case of a man with acute PTS and exceptional involvement of both saphenous nerves, advantageously treated with intravenous immunoglobulin.
Lipomas are common benign soft tissue tumours which tend to be indolent and risk free. Lipomas ra... more Lipomas are common benign soft tissue tumours which tend to be indolent and risk free. Lipomas rarely spread in the deep soft tissue causing posterior interosseous nerve (PIN) neuropathy. We present two patients with multiple lipomatosis of the arms and PIN paralysis, with a brief review of the cases reported in literature. We emphasize the role of electromyographic study as unique methodical capable to reveal an early radial nerve damage, permitting an optimal post-surgical nerve function recovering.
Journal of submicroscopic cytology and pathology, 2002
Nemaline myopathy is a rare congenital muscle disease, with neonatal or adult onset. We report cl... more Nemaline myopathy is a rare congenital muscle disease, with neonatal or adult onset. We report clinical and ultrastructural study of a 73-year-old woman whose symptoms manifested at age 40 years with proximal muscle weakness, nocturnal cramps, muscle pain and walking impairment. Muscle biopsy showed rods and other typical findings suggesting nemaline myopathy. This myopathy should be taken into account in the differential diagnosis of adult onset myopathies. Only ultrastructural examination allows an exact diagnosis.
To propose and apply a protocol for assessing the outcome of surgery for carpal tunnel syndrome. ... more To propose and apply a protocol for assessing the outcome of surgery for carpal tunnel syndrome. The protocol included a patient questionnaire that was self-administered before and 1 and 6 months after the operation to assess severity of symptoms (Boston questionnaire) and staging according to clinical (Giannini) and electrophysiological (Padua) severity scales. The results of a prospective series of 323 hands undergoing surgery for carpal tunnel syndrome by the mini-incision of the palm technique are reported. The method was found to be valid, precise, reliable, and straightforward, enabling a comparison of the results from different patient series and different operating techniques.
This prospective study aim to examine whether clinical findings and electrodiagnostic testing (ED... more This prospective study aim to examine whether clinical findings and electrodiagnostic testing (EDX) in patients with lumbosacral monoradiculopathy due to herniated disc (HD) differ as a function of root involvement level (L5 vs. S1) and HD zone (paramedian vs. intraforaminal). All patients with L4, L5 or S1 monoradiculopathy were prospectively enrolled at four electromyography (EMG) labs over a 2-year period. The diagnosis was based on a congruence between patient history and MRI evidence of HD. We compared the sensitivities of clinical findings and EDX with respect to both root involvement level and HD zone. Multivariate logistic regression was performed in order to verify the association between abnormal EMG, clinical, and neuroradiological findings. One hundred and eight patients (mean age 47.7 years, 55% men) were consecutively enrolled. Sensory loss in the painful dermatome was the most frequent finding at physical examination (56% of cases). EMG was abnormal in at least one muscle supplied by femoral and sciatic nerves in 45 cases (42%). Inclusion of paraspinal muscles increased sensitivity to only 49% and that of proximal muscles was useless. Motor and sensory neurography was seldom abnormal. The most frequent motor neurographic abnormalities were a delay of F-wave minimum latency and decrease in the compound muscle action potential amplitude from extensor digitorum brevis and abductor hallucis in L5 and S1 radiculopathies, respectively. Sensory neurography was usually normal, the amplitude of sensory nerve action potential was seldom reduced when HD injured dorsal root ganglion or postganglionic root fibres. Multivariate logistic regression analysis showed that EMG abnormalities could be predicted by myotomal muscular weakness, abnormal deep reflexes, and paraesthesiae. The only clinical and electrophysiological differences with respect to root involvement level concerned deep reflexes and motor neurography of deep peroneal and tibial nerves. Only some EDX parameters are helpful for the diagnosis of lumbosacral radiculopathy. EMG was abnormal in less than 50% of cases and its abnormalities could be predicted by some clinical findings. However, neurography is useful as a tool for differential diagnosis between radiculopathy and more diffuse disorders of the peripheral nervous system (polyneuropathy, plexopathy).
Transcranial magnetic stimulation (TMS) studies on the pathways to the upper limbs have revealed ... more Transcranial magnetic stimulation (TMS) studies on the pathways to the upper limbs have revealed inconsistent results in patients harboring mutations in SPAST/SPG4 gene, responsible for the commonest form of hereditary spastic paraplegia (HSP). This paper is addressed to study the corticomotor excitability of the pathways to the upper limbs in SPG4 subjects. We assessed the corticomotor excitability of hand muscles in 12 subjects belonging to 7 unrelated SPG4 families and in 12 control subjects by stimulus-response curve [input-output (I-O) curve]. All the parameters of the recruitment curve (threshold, V50, slope and plateau) did not differ significantly from those of the controls. Presence of upper limb hyper-reflexia did not influence the results of I-O curve. Considering the multiplicity of possible genes/loci accounting for pure HSPs, performing TMS analyses could be helpful in differential diagnosis of pure HSPs in the absence of other clinical or neuroimaging tools.
In hereditary neuropathy with liability to pressure palsies (HNPP), the increase in distal motor ... more In hereditary neuropathy with liability to pressure palsies (HNPP), the increase in distal motor latencies (DMLs) is often out of proportion to the slowing of conduction velocities, but the pathophysiological mechanism is still unclear. We used a combined electrophysiological and ultrasonographic (US) approach to provide insight into this issue. Twelve HNPP subjects underwent extensive electrophysiological studies and US measurements of the cross-sectional area (CSA) of several peripheral nerves. US nerve enlargement was only observed in the carpal tunnel, Guyon's canal, the elbow and the fibular head. We did not observe US abnormalities at sites where nerve entrapment is uncommon. An increase in DMLs was observed regardless of US nerve enlargement. The increased nerve CSA only in common sites of entrapment likely reflected the well-documented nerve vulnerability to mechanical stress in HNPP. No morphometric changes were seen in the distal nerve segments where compression/entrapment is unlikely, despite the fact that the DMLs were increased. These data suggest that factors other than mechanical stress are responsible for the distal slowing of action potential propagation. We speculate that a mixture of mechanical insults and an axon-initiated process in the distal nerves underlies the distal slowing and/or conduction failure in HNPP.
Polyneuropathy has been reported in cerebrotendinous xanthomatosis (CTX), although its nature and... more Polyneuropathy has been reported in cerebrotendinous xanthomatosis (CTX), although its nature and possible association with certain genotypes and phenotypes are unclear. The effect of chronic administration of chenodeoxycholic acid (CDCA) on peripheral nerve conduction parameters is still debated. We report clinical, laboratory, and electrophysiological findings in 35 CTX patients. Twenty-six subjects (74.2 %) showed peripheral nerve abnormalities. Polyneuropathy was predominantly axonal (76.9 % of patients) and generally mild. No correlation was found between its presence and clinical or biochemical data. In polyneuropathic patients, CDCA treatment improved electrophysiological conduction parameters, irrespective of the duration of therapy. Improvement mainly concerned nerve conduction velocities, whereas most nerve amplitudes remained unchanged. This means that CDCA treatment did not influence the number of axons activated by maximum electrical stimulation but increased the conduction of the still-excitable fibers. Our findings may suggest that CDCA treatment promotes myelin synthesis in nerve fibers with residual unaffected axons. The effect of therapy may therefore depend largely on the extent of irreversible structural damage to axons.
Parsonage-Turner syndrome (PTS) is a relatively rare cause of upper extremity weakness and pain. ... more Parsonage-Turner syndrome (PTS) is a relatively rare cause of upper extremity weakness and pain. There is currently no effective treatment for PTS although corticosteroids are recommended. Here we report the case of a man with acute PTS and exceptional involvement of both saphenous nerves, advantageously treated with intravenous immunoglobulin.
Lipomas are common benign soft tissue tumours which tend to be indolent and risk free. Lipomas ra... more Lipomas are common benign soft tissue tumours which tend to be indolent and risk free. Lipomas rarely spread in the deep soft tissue causing posterior interosseous nerve (PIN) neuropathy. We present two patients with multiple lipomatosis of the arms and PIN paralysis, with a brief review of the cases reported in literature. We emphasize the role of electromyographic study as unique methodical capable to reveal an early radial nerve damage, permitting an optimal post-surgical nerve function recovering.
Journal of submicroscopic cytology and pathology, 2002
Nemaline myopathy is a rare congenital muscle disease, with neonatal or adult onset. We report cl... more Nemaline myopathy is a rare congenital muscle disease, with neonatal or adult onset. We report clinical and ultrastructural study of a 73-year-old woman whose symptoms manifested at age 40 years with proximal muscle weakness, nocturnal cramps, muscle pain and walking impairment. Muscle biopsy showed rods and other typical findings suggesting nemaline myopathy. This myopathy should be taken into account in the differential diagnosis of adult onset myopathies. Only ultrastructural examination allows an exact diagnosis.
To propose and apply a protocol for assessing the outcome of surgery for carpal tunnel syndrome. ... more To propose and apply a protocol for assessing the outcome of surgery for carpal tunnel syndrome. The protocol included a patient questionnaire that was self-administered before and 1 and 6 months after the operation to assess severity of symptoms (Boston questionnaire) and staging according to clinical (Giannini) and electrophysiological (Padua) severity scales. The results of a prospective series of 323 hands undergoing surgery for carpal tunnel syndrome by the mini-incision of the palm technique are reported. The method was found to be valid, precise, reliable, and straightforward, enabling a comparison of the results from different patient series and different operating techniques.
This prospective study aim to examine whether clinical findings and electrodiagnostic testing (ED... more This prospective study aim to examine whether clinical findings and electrodiagnostic testing (EDX) in patients with lumbosacral monoradiculopathy due to herniated disc (HD) differ as a function of root involvement level (L5 vs. S1) and HD zone (paramedian vs. intraforaminal). All patients with L4, L5 or S1 monoradiculopathy were prospectively enrolled at four electromyography (EMG) labs over a 2-year period. The diagnosis was based on a congruence between patient history and MRI evidence of HD. We compared the sensitivities of clinical findings and EDX with respect to both root involvement level and HD zone. Multivariate logistic regression was performed in order to verify the association between abnormal EMG, clinical, and neuroradiological findings. One hundred and eight patients (mean age 47.7 years, 55% men) were consecutively enrolled. Sensory loss in the painful dermatome was the most frequent finding at physical examination (56% of cases). EMG was abnormal in at least one muscle supplied by femoral and sciatic nerves in 45 cases (42%). Inclusion of paraspinal muscles increased sensitivity to only 49% and that of proximal muscles was useless. Motor and sensory neurography was seldom abnormal. The most frequent motor neurographic abnormalities were a delay of F-wave minimum latency and decrease in the compound muscle action potential amplitude from extensor digitorum brevis and abductor hallucis in L5 and S1 radiculopathies, respectively. Sensory neurography was usually normal, the amplitude of sensory nerve action potential was seldom reduced when HD injured dorsal root ganglion or postganglionic root fibres. Multivariate logistic regression analysis showed that EMG abnormalities could be predicted by myotomal muscular weakness, abnormal deep reflexes, and paraesthesiae. The only clinical and electrophysiological differences with respect to root involvement level concerned deep reflexes and motor neurography of deep peroneal and tibial nerves. Only some EDX parameters are helpful for the diagnosis of lumbosacral radiculopathy. EMG was abnormal in less than 50% of cases and its abnormalities could be predicted by some clinical findings. However, neurography is useful as a tool for differential diagnosis between radiculopathy and more diffuse disorders of the peripheral nervous system (polyneuropathy, plexopathy).
Transcranial magnetic stimulation (TMS) studies on the pathways to the upper limbs have revealed ... more Transcranial magnetic stimulation (TMS) studies on the pathways to the upper limbs have revealed inconsistent results in patients harboring mutations in SPAST/SPG4 gene, responsible for the commonest form of hereditary spastic paraplegia (HSP). This paper is addressed to study the corticomotor excitability of the pathways to the upper limbs in SPG4 subjects. We assessed the corticomotor excitability of hand muscles in 12 subjects belonging to 7 unrelated SPG4 families and in 12 control subjects by stimulus-response curve [input-output (I-O) curve]. All the parameters of the recruitment curve (threshold, V50, slope and plateau) did not differ significantly from those of the controls. Presence of upper limb hyper-reflexia did not influence the results of I-O curve. Considering the multiplicity of possible genes/loci accounting for pure HSPs, performing TMS analyses could be helpful in differential diagnosis of pure HSPs in the absence of other clinical or neuroimaging tools.
In hereditary neuropathy with liability to pressure palsies (HNPP), the increase in distal motor ... more In hereditary neuropathy with liability to pressure palsies (HNPP), the increase in distal motor latencies (DMLs) is often out of proportion to the slowing of conduction velocities, but the pathophysiological mechanism is still unclear. We used a combined electrophysiological and ultrasonographic (US) approach to provide insight into this issue. Twelve HNPP subjects underwent extensive electrophysiological studies and US measurements of the cross-sectional area (CSA) of several peripheral nerves. US nerve enlargement was only observed in the carpal tunnel, Guyon's canal, the elbow and the fibular head. We did not observe US abnormalities at sites where nerve entrapment is uncommon. An increase in DMLs was observed regardless of US nerve enlargement. The increased nerve CSA only in common sites of entrapment likely reflected the well-documented nerve vulnerability to mechanical stress in HNPP. No morphometric changes were seen in the distal nerve segments where compression/entrapment is unlikely, despite the fact that the DMLs were increased. These data suggest that factors other than mechanical stress are responsible for the distal slowing of action potential propagation. We speculate that a mixture of mechanical insults and an axon-initiated process in the distal nerves underlies the distal slowing and/or conduction failure in HNPP.
Polyneuropathy has been reported in cerebrotendinous xanthomatosis (CTX), although its nature and... more Polyneuropathy has been reported in cerebrotendinous xanthomatosis (CTX), although its nature and possible association with certain genotypes and phenotypes are unclear. The effect of chronic administration of chenodeoxycholic acid (CDCA) on peripheral nerve conduction parameters is still debated. We report clinical, laboratory, and electrophysiological findings in 35 CTX patients. Twenty-six subjects (74.2 %) showed peripheral nerve abnormalities. Polyneuropathy was predominantly axonal (76.9 % of patients) and generally mild. No correlation was found between its presence and clinical or biochemical data. In polyneuropathic patients, CDCA treatment improved electrophysiological conduction parameters, irrespective of the duration of therapy. Improvement mainly concerned nerve conduction velocities, whereas most nerve amplitudes remained unchanged. This means that CDCA treatment did not influence the number of axons activated by maximum electrical stimulation but increased the conduction of the still-excitable fibers. Our findings may suggest that CDCA treatment promotes myelin synthesis in nerve fibers with residual unaffected axons. The effect of therapy may therefore depend largely on the extent of irreversible structural damage to axons.
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