A-delta and C-fibres function in primary restless legs syndrome.

STUDY AIMS: The sensory symptoms that are reported in restless legs syndrome (RLS) suggest involvement of the peripheral nervous system (PNS) in general and of the small-fibre system in particular. We aimed to study the status of the small-fibre system in primary RLS. PATIENTS AND METHODS: We investigated 10 patients with idiopathic RLS (mean time since disease onset: 11.4 +/- 12 years, mean International Restless Legs Syndrome Study Group [IRLSSG] score: 23.4 +/- 8). Five had a family history. All had normal results for laboratory tests, neurological examination, and a sural/deep-peroneal nerve conduction study. Lower-limb thulium YAG laser-evoked potentials (LEP) and skin sympathetic reflexes (SSR) were performed. The results were compared with data from 10 healthy subjects. RESULTS: The nociceptive thresholds were 293 +/- 62 mJ for patients and 333 +/- 77 mJ for controls. For patients, the vertex N2 and P2 latencies were 208 +/- 25 ms and 366 +/- 51 ms, respectively (controls: N2 = 235 +/- 41 ms; P2 = 373 +/- 44 ms). The N2-P2 amplitude was 19 +/- 6 microV for patients and 18 +/- 7 microV for controls. SSR were normal in all patients. No significant differences between patients and healthy subjects were observed. CONCLUSION: We failed to demonstrate any significant involvement of small fibres and spinothalamic tracts in idiopathic RLS. Even though sufferers of this specific form of RLS report sensory symptoms, pathogenesis appears to be dissociated from a PNS alteration.

The value of electromyography in the aetiological diagnosis of hypotonia in infants and toddlers.

INTRODUCTION: During the first two years of life, hypotonia may be the only symptom of a central or peripheral nervous system disorder. We propose to assess the sensitivity of electroneuromyography (ENMG) in the aetiological diagnosis of hypotonia of neuromuscular origin in infants and toddlers. METHOD: This is a retrospective, single-centre study with revision of the files of the 37 children aged between zero and 24 months who, between 1994 and 2006, underwent an ENMG in the etiological approach of their hypotonia and had a final diagnosis of neuromuscular disease. RESULTS: All the 13 patients with spinal muscular atrophy or Charcot Marie-Tooth disease displayed neurogenic alterations on the electromyography (EMG). Among the 24 children ultimately diagnosed with myopathies, five only displayed myogenic alterations when tested before the age of two. Sixteen had normal EMG results and three showed neurogenic alterations. DISCUSSION AND CONCLUSION: In infants presenting with hypotonia, ENMG is useful for the diagnosis of peripheral neuropathy. Normal ENMG is relatively common for confirmed muscle disorders in infants whereas myogenic alterations seem more unusual, so that muscle biopsy appears unquestionable. In a few cases, early onset myopathies may present with a neurogenic ENMG pattern. Such a result should not invalidate the clinically presumed diagnosis of myopathy and would indicate on the contrary the need for a muscle biopsy.

Delayed, transient sciatic nerve palsy after primary cementless hip arthroplasty: a report of two cases.

Delayed sciatic nerve palsy is uncommon after primary hip replacement. Two kinds of sciatic palsy have been reported with regard to the time of onset: early palsy related to wound haematoma or lumbosacral nerve elongation which occurs between surgery and 18 days, is more frequent than delayed palsy, occurring between 10 and 32 months, which is usually caused by cement extrusion or heat produced by cement polymerisation. We present two cases of delayed, transient sciatic nerve palsy arising at three weeks and four months after primary cementless arthroplasty, respectively, without haematoma and with a normal lumbar spine. These palsies were possibly caused by excessive tension from minor limb lengthening of 2 cm to 4 cm required to achieve leg-length equality. As the initial symptoms were limited to calf pain and mild numbness in the foot, surgeons should be aware of this mode of onset, particularly when it is delayed after hip replacement. Both patients recovered fully by 12 months after surgery so we did not undertake surgical exploration of the nerve in either patient.

A specific clinical pattern of camptocormia in Parkinson's disease.

BACKGROUND: Camptocormia, characterised by extreme forward flexion of the thoracolumbar spine and severe stooping in the supine position, seems to be prevalent in Parkinson's disease. OBJECTIVE: The aim of this study was to identify features of parkinsonian camptocormia and to describe the main clinical characteristics of patients with Parkinson's disease who develop the condition. METHODS: An extensive range of clinical, biochemical and imaging data were gathered for 23 patients with Parkinson's disease with camptocormia, notably including magnetic resonance imaging (MRI) of the brain and spine, electromyographic recordings of the paravertebral muscles and muscle biopsies. RESULTS: Camptocormia occurred in severe Parkinson's disease with axial predominance, motor fluctuations and dysautonomic symptoms. The condition was often associated with spondyloarthritic changes and pain. MRI showed paraspinal muscle signal abnormalities in five patients and fatty involution in seven patients. The seven patients had motor unit reductions on the spinal erector electromyogram. The MRI results for the girdle muscles were normal. Cranial MRI showed signal abnormalities for the basal ganglia in three patients. DISCUSSION: Various mechanisms may contribute to the development of parkinsonian camptocormia: dopaminergic depletion in Parkinson's disease induces functional changes in the organisation of the corticospinal and reticulospinal tracts, where dysfunction could contribute to axial rigidity. Furthermore, rigidity of the spinal flexion muscles could lead to under-use of the spinal extension muscles, which become progressively atrophic. Rigidity may also induce spinal deformations, leading to a neurogenic syndrome via compression of the spinal nerves. CONCLUSION: The screening and early management of camptocormia in Parkinson's disease is likely to be important for preventing axial disorders and spinal deformations.

[A case of neuropathy mimicking Guillain-Barré syndrome after arsenic intoxication]. / Un cas de neuropathie mimant un syndrome de Guillain-Barré après une intoxication à l'arsenic.

INTRODUCTION: Chronic arsenic toxicity is a global health problem affecting millions of people. Acute arsenic poisoning is less frequent and it is most often lethal. Therefore, its consequences are not well known, more precisely its neurological consequences. OBSERVATION: We report a case of Guillain-Barré-like syndrome and encephalopathy after acute arsenical poisoning in a 50 year-old man. After 4 month follow-up, the improvement was slow and limited with persistent motor and proprioceptive deficits. DISCUSSION: The most frequent neurological complication induced by acute arsenical poisoning is a distal, symmetrical, sensory, axonal polyneuropathy. Yet the clinical course and the electrophysiological findings may also suggest a Guillain-Barré like syndrome. Moreover, the chelating is not very effective on the neurological complications. CONCLUSION: Any discrepancies in the clinical course of a Guillain-Barré syndrome shall lead to reconsider the diagnosis. The association of gastro-intestinal disorders, skin lesions, and encephalopathy and mood disorders leads to discuss intoxication with heavy metal and more precisely with arsenic. Moreover, the chelating is not very effective on the neurological complications.

A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification.

We report a phenotype associated with the Val1589Met substitution in SCN4A gene in a French family which would be better classified as paramyotonia congenita. The proband was a 48-year-old woman, who described muscle stiffness and occasional flaccid weakness, both symptoms being induced by exercise, cold and heat. Severe muscle stiffness affected facial, oropharyngeal and limb muscles leading to transient paralysis of these muscles. One sister, two nephews and the son of the proband had similar symptoms. Molecular analysis of the muscle sodium channel gene (SCN4A) by nucleotide sequencing revealed a G-to-A transition of cDNA nucleotide at position 4765 predicting a substitution of methionine for valine at position 1589. This shows that the Val1589Met mutation in the SCN4 gene may cause different phenotypes, either potassium-aggravated myotonia or paramyotonia congenita. Familial or individual factors other than the missense mutation per se influence the expression of the disease in sodium channel disorders.

[Parkinson's disease, progressive lumbar kyphosis and focal paraspinal myositis]. / Maladie de Parkinson, camptocormie et myosite focale paraspinale.

INTRODUCTION: The camptocormia (bent spine) is characterized by a severe forward flexion of the thoracolumbar spine which disappears in the supine position. Clinical case. We describe a typical case observed in a parkinsonian patient. The MRI, electromyogram and biopsy of the paraspinal muscles revealed a typical myositis pattern. DISCUSSION: This case, the sixth published to our knowledge, confirms that focal myositis is associated with the camptocormia in Parkinson's disease. Typically it is observed in male subjects, appearing 4 to 6 years after the onset of Parkinson's disease, in fluctuating patients treated by an association of L-Dopa and agonist. It appears quickly and becomes the most important symptom. Antiparkinsonian drugs are useless. CONCLUSION: This exceptional picture raises original pathophysiological and therapeutic questions. Systematic studies should be performed in order to detail the pathophysiological link between these 3 entities: Parkinson's disease, focal myositis and camptocormia.

[Cortical blindness associated with Guillain-Barre syndrome: a complication of dysautonomia?]. / Cécité corticale associée à un syndrome de Guillain-Barré. Une complication de la dysautonomie?

INTRODUCTION: We report a case of a Guillain-Barre syndrome (GBS) with subarachnoid hemorrhage and regressive occipital white matter lesions. OBSERVATION: A 62-year-old woman developed ascendant progressive paresthesia and weakness of arms and legs, 48 hours after enteritis infection. Neurological examination showed tetraparesia with loss of deep tendon reflexes and alteration of proprioception tests. Nerve conduction studies revealed polyradiculoneuritis. Then she presented an acute blindness and hypertension. Brain magnetic resonance imaging showed bilateral occipital lesions and subarachnoid hemorrhage. Cerebrospinal fluid analysis revealed an elevated protein level (1.54 g/l) and red blood cells without meningitis. Brain arteriography was normal. Intravenous immunoglobulins improved neurological symptoms. CONCLUSION: Posterior localisation of reversible white matter lesions evoked a reversible posterior leukoencephalopathy. The implication of arterial hypertension caused by dysautonomia during GBS could be suspected.

A family with a novel frameshift mutation in the PMP22 gene (c.433_434insC) causing a phenotype of hereditary neuropathy with liability to pressure palsies.

Hereditary neuropathy with liability to pressure palsies is usually due to PMP22 deletion. Point mutations of PMP22 causing an hereditary neuropathy with liability to pressure palsies phenotype are rare. We describe a clinical and electrodiagnostic phenotype of hereditary neuropathy with liability to pressure palsies in a 21-year-old woman, which led to our detecting a novel frameshift mutation of PMP22. This mutation was also found in her mother and brother and corresponded to an insertion of one cytidine between nucleotides 433 and 434 in the last coding exon (c.433_434insC). The mutated PMP22 protein lacks the last 15 amino acids and has a modified C terminus lengthened to 221 residues instead of 160 (Leu145fsX222). The mother and the proband had a clinical and electrophysiological hereditary neuropathy with liability to pressure palsies phenotype. The brother was asymptomatic, but the results of electrodiagnostic tests were suggestive of hereditary neuropathy with liability to pressure palsies. This observation of a new mutation mostly leading to a PMP22 haploinsufficiency provides further evidence of the diversity of phenotypes associated with frameshift PMP22 mutations.

[Ataxic neuropathy associated with disialosylated antibodies: description of new clinical and biochemical forms]. / Neuropathie ataxiante associée à des anticorps anti-gangliosides disialylés: description de nouvelles formes cliniques et biologiques.

INTRODUCTION: Polyneuropathies associated with IgM monoclonal gammopathy were recently recognized. Antibodies can react with glycoproteins such as myelin associated glycoprotein (MAG), or gangliosides containing one sialosyl epitope such as GM1 or several sialosyl epitopes (polysialyted gangliosides) including GD2, GD3, GT1b, GT1a, GQ1b. METHODS: We report on three patients presenting oculomotor dysfunction, chronic sensitive ataxic polyneuropathy, high sedimentation rate, IgM monoclonal paraprotein of unknown signification and antidisialosyl IgM antibodies and for two of them cold agglutinins. Such features have been previously described under the acronym "CANOMAD" (chronic ataxic neuropathy with ophthalmoplegia, M protein, agglutination and disialosyl antibodies). RESULTS: One of the patients presents extramembranous glomerulopathy and severe motor disability associated with this syndrome. The pathophysiology of the glomerulopathy seems to be linked with the polyneuropathy. Patients were treated either by intravenous immunoglobulin, corticosteroids or cyclophosphamid. Response to treatment differs in the three cases and there is currently no consensus. CONCLUSION: Our study demonstrates that spectrum of polyneuropathy associated with monoclonal polyneuropathy may be larger than originally described.

[Flaccid tetraplegia following anti-tetanus vaccination]. / Tétraplégie flasque après vaccination anti-tétanique.

INTRODUCTION: Anti-tetanus vaccination is considered to be very safe. However complications such as mononevritis, multinevritis or even polyradiculonevritis can be encountered. OBSERVATION: An 85-year-old man was admitted to our unit after a traffic accident caused by stroke. Seventy-two hours later the patient developed tetraplegia within a few hours, caused by neuropathy secondary to anti-tetanus vaccination. DISCUSSION: In this elderly patient, the rapid onset and severe presentation of the tetraplegia as well as the past history of normal vaccination and the axonal form of the neuropathy could have led to a misdiagnosis of neuropathy after booster anti-tetanus vaccination. We first ruled out other possible diagnoses and then reviewed the possible mechanisms of neurological complications of vaccinations. These complications are probably underestimated in elderly hospitalized patients who receive a booster shot in the emergency department. CONCLUSION: This report illustrates the importance of reconsidering the benefit/risk relationship of anti-tetanos vaccination.

[Hypertrophy of the biceps surae after post-radiation lumbar radiculopathy]. / Hypertrophie du triceps sural gauche consécutive à une radiculopathie post-radique.

A 44 year-old man who underwent radiotherapy for Hodgkin disease in 1987 developed in 1996 pain and calf hypertrophy. Nerve conduction studies were normal and needle electromyography revealed a neurogenic pattern in the L-5 and S-1 roots, predominantly on the left side. An abdominal tomodensitometry revealed a splenic and left renal atrophy. Cerebrospinal fluid analysis showed an elevated protein level (1.35 g/l) and no malignant cell. Spinal cord magnetic resonance imaging revealed no abnormality of the roots and the cauda equina. Muscular hypertrophy, as the consequence of post-irradiation lumbar radiculopathy is rarely reported. We discuss the possible mechanism of neurogenic muscular hypertrophy.

[Bilateral phrenic nerve paralysis, dysautonomia and restrictive cardiomyopathy in a case of POEMS syndrome]. / Paralysie phrénique bilatérale, dysautonomie et cardiomyopathie restrictive dans un cas de syndrome POEMS.

We report a case of POEMS syndrome (Polyneuropathy, Organomegaly, Endocrinopathy, M protein and Skin changes) with unusual clinical features. A 62-year-old woman presented a severe polyneuropathy with dysphonia and vegetative symptoms, including bradycardia and sphincterial disorders. The clinical examination showed facial hyperpigmentation, cachexia, anasarca and splenomegaly. She also presented restrictive cardiomyopathy and endocrine disturbances. Nerve conduction studies revealed a severe demyelinating sensorimotor neuropathy. Cerebrospinal fluid analysis showed an elevated protein level. We detected a biclonal gammapathy (Ig G and Ig A with lambda light chain) and lytic pelvic bone lesions. Later, she developed a severe ventilatory failure due to a bilateral phrenic nerve paralysis leading to a mechanical ventilation. Steroids followed by localized radiotherapy partially improved the respiratory status and stabilized the neuropathy. Phrenic nerve paralysis, restrictive cardiomyopathy, vegetative symptoms and cranial nerve palsy are exceptional in POEMS syndrome. Moreover, this case emphasizes the importance of radiological investigations since the discover of plasmocytoma may improve the prognosis of POEMS syndrome.

[Chronic polyradiculoneuritis disclosing sarcoidosis]. / Polyradiculonévrite chronique révélatrice d'une sarcoïdose.

Peripheral Nervous System (PNS) involvement occurs in 10 to 40 percent of patients presenting with sarcoidosis. Axonal polyneuropathies and mononeuropathies are the most frequently reported whereas acute or chronic polyradiculoneuritis are rarely described. We report the case of a 54 year-old-woman admitted for a progressive sensorimotor deficit of the lower limbs. Bilateral ocular redness corresponding to an uveitis was also observed. Neurological examination and electrophysiological data were consistent with a chronic polyradiculoneuritis. The neurological status of the patient improved after six months of treatment with oral corticotherapy associated with immunosuppressive treatment. Our case allows a review of the literature concerning PNS involvements and treatments in sarcoidosis.

Diagnosing thoracic outlet syndrome: contribution of provocative tests, ultrasonography, electrophysiology, and helical computed tomography in 48 patients.

OBJECTIVE: To evaluate the diagnostic usefulness of provocative tests, Doppler ultrasonography, electrophysiological investigations, and helical computed tomography (CT) angiography in thoracic outlet syndrome (TOS). PATIENTS AND METHODS: We prospectively evaluated 48 patients with a clinical suspicion of thoracic outlet syndrome. Standardized provocative tests, an electromyogram and somatosensory evoked responses, a Doppler ultrasonogram, and a helical CT arterial and/or venous angiogram with dynamic maneuvers were done on each patient. The final diagnosis was established by excluding all other causes based on all available data. The agreement between the results of each investigation and the final diagnosis was evaluated. RESULTS: Provocative tests had mean sensitivity and specificity values of 72% and 53%, respectively, with better values for the Adson test (positive predictive value [PPV], 85%), the hyperabduction test (PPV, 92%), and the Wright test. Using several tests in combination improved specificity. Doppler ultrasonography visualized vascular parietal abnormalities and confirmed the diagnosis in patients with at least five positive provocative tests. Electrophysiological studies were useful mainly for the differential diagnosis or for detecting concomitant abnormalities. Although helical CT angiography provided accurate information on the location and mechanism of vascular compression, the usefulness of this investigation for establishing the diagnosis of TOS and for obtaining pretherapeutic information remains unclear.

Congenital myopathy with central cores and fingerprint bodies in association with malignant hyperthermia susceptibility.

A 26-year-old man had proximal weakness in the shoulder and the pelvic girdle since infancy. His sister, aged 16 years, presented a similar phenotype with more pronounced pelvic weakness. His muscle biopsy showed dense non-reducing inclusions which had a lamellar pattern at the ultrastructural level. These structures showed the typical features of fingerprint inclusions which were widely distributed in the fibers. Several central cores and other structural changes such as Z-line streaming were also observed. In view of the central cores, the male patient was investigated for malignant hyperthermia susceptibility. After exposure to halothane or caffeine, unusual intense contractures were observed on fiber preparations. The coexistence of central cores associated with fingerprint inclusions is suggestive of mixed congenital myopathy, which is in our case associated with malignant hyperthermia susceptibility.

[Tubular aggregate congenital myopathy associated with neuromuscular block]. / Myopathie congénitale à agrégats tubulaires associée à un bloc neuromusculaire.

Various myopathies are described associated with tubular aggregates. However, in several cases tubular aggregates constitute the main structural feature allowing to consider myopathy with tubular aggregates as a distinct entity. A 50-year-old woman whose parents were consanguinous, presented frequent falls. She walked only after 18 months of age and did poorly in gymnastics. The weakness, which has myasthenic feature, involved predominantly the pelvis girdle. The serum creatine kinase was 206 UI/L (normal < 110 UI/L). Electromyogram showed a myogenic pattern in proximal muscles. Repetitive stimulation on the trapezius revealed 50 p. cent decrementing response. Muscle biopsy showed numerous tubular aggregates in type II fibers. Anti-acetylcholine receptor (AChR) antibodies were absent. There was no thymoma. The neostigmine test was negative. Clinical and electrical myasthenic features characterize one of the numerous forms of myopathy with tubular aggregates. In our case, the lack of AChR antibodies and the negative response to neostigmine argue in favor of a dysfunction of the AChR. This unusual observation highlights the therapeutic difficulties in this myopathy with neuromuscular block.