Multifocal motor neuropathies with conduction blocks. 39 cases

Clinical, biological and electrophysiological features from a cohort of 39 multifocal motor neuropathies with conduction blocks (NMM with CB) have been studied. There were 29 males and 10 females with an average of 47.3. At the first evaluation, the mean duration of the symptoms was of 8 years with extremes between 1 and 28. Pain and paresthesias were present in respectively 10 and 18 p. 100 of the patients. Fasciculations and cramps were observed in more than 2/3 of the cases. Three patients had tremor at rest. Upper limb muscular weakness was the predominant initial symptom (84.6 p. 100). The weakness always affected distal and unilateral muscles. Radial and cubital nerve distribution are mainly affected and in half of the cases an unilateral motor deficit in the lower limb was associated. Muscle atrophy was frequent (74 p. 100) and rapidly developed in the first 2 years. Reflexes were decreased or absent in 64 p. 100. In 78 p. 100 of cases, biological study showed normal serum immunoelectrophoresis and CSF. IgM anti-GM1 antibodies were found in 24/36 patients. Very high titres were found in 5 cases. All patients had CB in upper limbs. The preferential localizations of the CB were equally at the median and ulnar nerves. Only 7 patients had CB localized to the lower limbs. In many cases, marked reduction of the motor amplitude prevented the detection of CB, marked reduction of the motor amplitude prevented the detection of CB. Moderate fibrillation potentials were found in 28 p. 100 of patients. Giant muscular unit potentials were frequent (21/39). F-waves in nerve with CB were always abnormal with marked increased latencies. Late responses sometimes seemed to be repeater F-waves. Axon reflexes were detected in 5 cases. The late responses abnormalities could precede the block. Clinical, biological and electrophysiological described arguments could may distinguish NMM with CB from motor neuron disease and relate them to the group of chronic demyelinating neuropathies.     

Electrophysiologic findings in multifocal motor neuropathy

We performed detailed electrophysiologic studies on 16 patients with clinically defined multifocal motor neuropathy and found a wide spectrum of demyelinating features. Only five patients (31%) had conduction block in one or more nerves. However, in 15 patients (94%) at least one nerve showed other features of demyelination. We also noted a significant degree of superimposed axonal degeneration in 15 patients. Eight patients (50%) had individual nerves with pure axonal injury, despite the presence of demyelinating features in other nerves. Antiganglioside antibodies were elevated in four of five patients with conduction block and five of 11 patients without conduction block. We conclude that multifocal motor neuropathy is characterized electrophysiologically by a wide spectrum of axonal and demyelinating features. Diagnostic criteria requiring conduction block may lead to underdiagnosis of this potentially treatable neuropathy.     

Multifocal motor neuropathy. Serum IgM anti-GM1 ganglioside antibodies in most patients detected using covalent linkage of GM1 to ELISA plates

IgM anti-GM1 antibodies occur with increased frequency in the serum of patients with multifocal motor neuropathy (MMN). We tested the ability of serum IgM from patients with MMN to bind to GM1 ganglioside covalently bound to secondary amino groups on ELISA plates (Co-GM1). The Co-GM1 technique detected high titer (> 1,800), selective, serum IgM binding to GM1 ganglioside in 85% of our MMN patients (23/27), a significantly greater frequency compared with figures of 37% and 52% found using our previous testing methods. Selective IgM anti-GM1 antibodies showed disease specificity. The only other patients with selective, high-titer IgM anti-GM1 antibodies had either chronic motor neuropathy without conduction block or acute immune neuropathy in China. No patient from the amyotrophic lateral sclerosis, chronic inflammatory demyelinating polyneuropathy, Guillain-Barré, or systemic immune disorder control groups had selective IgM anti-GM1 antibodies at titers greater than 1,800 detected using Co-GM1 ganglioside as ELISA antigen. Titers of IgM anti-GM1 antibodies in MMN (averaging 31,000 +/- 15,000) were more than fourfold higher with Co-GM1 than with previous anti-GM1 assay methods, using conventional ELISA plates with GM-1 antigen alone (7,200 +/- 4,400) or in a lipid environment (3,600 +/- 1,300). We conclude that using ELISA testing with Co-GM1 antigen, serum anti-GM1 autoantibodies are a useful marker for MMN, because they are present in 85% of MMN patients and, at titers greater than 1,800, have strong specificity for immune-mediated motor neuropathies.     

Response to therapy in demyelinating motor neuropathy

We reviewed results of immunotherapy in patients with demyelinating motor neuropathy (DMN), and found that patients over 50 years of age at onset responded poorly, and younger patients responded variably to intervention. We suggest that patients with DMN be given a guarded prognosis, particularly if >50 years of age at onset.     

Amyloid neuropathy simulating lower motor neuron disease

We report a 57-year-old man with progressive symmetric weakness and fasciculation affecting the legs. Electromyography revealed fibrillations and neurogenic motor unit potentials in the leg muscles. Biopsy of a motor branch of the obturator nerve revealed axonal degeneration, loss of myelinated nerve fibers, and amyloidosis with deposits of lambda light chains. At 6-month follow-up, the patient manifested sensory and autonomic symptoms, and lambda light chains were first detected in the serum. In this case, diagnosis of amyloidosis remained elusive until motor nerve biopsy.     

Contralateral early blink reflex in multifocal motor neuropathy

Nurses must share their research and experiences with colleagues in order that areas of practice are debated and improved. Assessing the suitability of a piece of work for a journal and following simple ground rules will increase the likelihood of publication.     

Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family

We describe a form of hereditary motor and sensory neuropathy (HMSN) affecting four siblings in an Italian family of Gypsy ethnic origin with both clinical and pathological findings very reminiscent of the HMSN Lom type (HMSNL), recently described in a group of Bulgarian Gypsies. Genetic analysis demonstrated linkage to chromosome 8q24 and conserved haplotypes in the HMSNL region, thus confirming that this is the first Gypsy family outside the Balkans suffering from the same disorder.     

Multifocal primary neuroblastoma

The purpose of this study is to present three patients with multifocal primary neuroblastoma, to review the literature, and describe the radiographic findings. SUBJECTS AND METHODS: Three children with multifocal neuroblastoma have been identified. The case histories and imaging findings in these patients are reviewed. RESULTS: Two children had synchronous and one child had metachronous multifocal primary neuroblastoma. The primary tumors were both in the abdomen in one patient, both in the chest in another patient, and in the chest and abdomen in the third patient. Evidence for multifocal origin of these tumors, rather than metastatic spread, is presented. CONCLUSION: Multifocal primary neuroblastomas can occur. The tumors maybe synchronous or metachronous. Awareness of this disorder may prevent errors in diagnosis and staging. Although not identified in our patients there is a strong familial incidence of neuroblastomas in those patients with multifocal tumors.     

Multifocal rod electroretinograms

PURPOSE: To assess the feasibility of obtaining reliable multifocal rod electroretinograms (ERGS) and to compare them to full-field ERGs. METHODS: Multifocal rod ERGs were recorded using a stimulus array of 61 hexagons. The minimum number of dark, blank frames between flashes was varied from 0 (a minimum of 13.3 msec between flashes) to 21 (a minimum of 293 msec between flashes). Full-field ERGs were obtained using trains of flashes designed to simulate the multifocal sequences. Flashes were blue (W47B), except in a few cases in which red (W26) was used to check for cone intrusion. Flash intensities varied from -1 to 1.7 log scot td-s. RESULTS: Dark-adapted, multifocal ERGs to blue flashes had a small, early component followed by a larger, late component. The early component showed little change in amplitude with increasing intensity. Comparisons with the full-field ERGs indicated that the early component was the focal response. The larger, late component was the response to stray light, and it can be suppressed with the addition of a surround. The focal response was from a relatively circumscribed retinal region. This is shown by comparing the multifocal rod responses from a patient with retinitis pigmentosa to her behaviorally measured rod visual field. CONCLUSIONS: By choosing conditions (namely, flashes of moderate intensity with a surround) to minimize the effects of stray light, multifocal rod ERGs can be recorded with sufficient localization to be clinically useful. However, the signal-to-noise ratio of these multifocal rod ERGs was poorer than for multifocal cone responses for comparable recording periods because of the need for blank frames and the slower recovery of the rods to successive presentations.     

Long term follow up of multifocal motor neuropathy with conduction block under treatment

OBJECTIVE: To determine the accuracy and potential harmfulness of the drug information in a newsgroup on the Internet, sci.med.pharmacy. DESIGN: In this cross-sectional study, two independent reviewers analyzed the nonsubjective drug information in this newsgroup. Drug information was classified as correct, incorrect or could not verify. Information was determined to have no harm, minor harm, moderate harm, or severe harm. RESULTS: About one-half of the drug information was found to be correct in this newsgroup. Although 68% of the drug information was found to result in no harm, 19.4% was classified as harmful. CONCLUSIONS: If drug information on the Internet contains inaccuracies, its ready accessibility may pose a public health problem. With the number of Internet users growing, health professionals need to be aware of the potential for dissemination of misinformation, and need to become familiar with the Internet and the various health information resources available to the public.     

Multifocal Best's vitelliform dystrophy

Three members of a family had multifocal, macular and extramacular--Best's vitelliform dystrophy. The lesion in one patient was observed over a ten-year period. A striking symmetry of locale and evolution of these lesions is noted between the eyes of a patient as well as among the three members of the family. The pseudohypopyon of the vitelliform cyst and the vitelliform deposits showed fluorescence before fluorescein injection. A hypofluorescent halo surrounded most lesions.     

Hereditary motor and sensory neuropathy with calf hypertrophy is associated with 17p11.2 duplication

The demyelinating type of hereditary motor and sensory neuropathy (HMSN I) is characterized by progressive weakness and atrophy of leg muscles. Six patients (age, 25-79 yr) belonging to three generations had calf hypertrophy (6 of 6), foot drop or difficulty with heel walking (4 of 6), pes cavus (3 of 6), absent or depressed tendon jerks in the lower limbs (4 of 6), and mild distal sensory loss (3 of 6). No other family member had leg atrophy. Motor conduction velocities ranged from 20 to 40 m/sec. Sural nerve biopsy showed loss of large myelinated fibers, numerous onion bulbs, and segmental demyelination and remyelination. Computed tomographic scans of leg muscles and histological and morphometric findings in gastrocnemius revealed true muscular hypertrophy. Southern blot and fluorescence in situ hybridization documented the duplication of the entire 17p11.2 segment associated with classical HMSN IA. The pathogenesis of muscle hypertrophy in our cases is unclear. Chronic leg muscle weakness and long-standing partial denervation might cause calf enlargement by a combination of compensatory "work-induced" and "stretch-induced" fiber hypertrophy. Alternatively, that all the affected family members presented calf hypertrophy might suggest the action of a genetic factor associated with the duplication at 17p11.2.     

Multifocal choroiditis: clinicopathologic correlation

Many of the white dot syndromes are considered to have a granulomatous pathogenesis. The histopathologic characteristics of this case of multifocal choroiditis seen within 15 months of apparent clinical onset show that the white dot lesions were nongranulomatous perivascular choroidal infiltrates, consisting mainly of B lymphocytes. Early choroidal neovascularization was also seen.     

Multifocal choroiditis with subretinal fibrosis

We report 2 cases of multifocal choroiditis associated with subretinal fibrosis on whom the fluorescein fundus angiography (FAG) and the indocyanine green infrared angiography (IA) were performed. Case 1 was a moderately myopic 14-year-old girl who had no ocular symptoms. She had numerous small, round, discrete, partially conflued lesions with subretinal fibrosis scattered in the periphery and one discrete relatively large lesion along the superotemporal arcade in her left fundus. Subretinal fibrosis had progressed in the superior lesion. Some lesions had coalesced into a sword-like pattern over a period of 2 years. Case 2 was a high myopic 18-year-old man who had distorted vision in his right eye. He had some small whitish round lesions with one small choroidal neovascular tissue and subretinal fibrosis in the posterior pole and a sword-like lesion in the inferior periphery. Another choroidal neovascular tissue developed near the macula during the 6-month follow-up period. In FAG, the centers of the lesions hypofluoresced corresponding to the pigmentation and the edges hyperfluoresced. Some of the lesions showed window-defects and others tissue-staining. In IA, all the whole lesions hypofluoresced from an early stage of the angiography and some major choroidal vessels were visible through them. The hypofluorescent areas persisted into the late phase. The hypofluorescent areas of the IA were larger than those seen in FAG and in funduscopy. These findings indicate that the choriocapillaris was initially damaged and consequently the structures of the lesions partly disappeared at the level of the retinal pigment epithelium-choriocapillaris complex.     

Hereditary motor and sensory neuropathy with spastic paraplegia and optic atrophy: report on a family

To determine the effect of RGP contact lens solution on corneal epithelial wound healing, the following solutions including Soaclens, Contopharma GPHCL-S, Boston condition, Bausch & Lomb condition and Duracare were applied on corneal epithelial wounds of enucleated pig eyes to evaluate possible cytotoxicity of RGP solutions. The wounds, created by excimer laser, were 1.5mm in diameter with 70 microns in depth. The eyeballs were maintained in an incubator using a perfusion system. After twenty-four hours, a score from 3 to 0 was given depending on the size of defect from absence of healing to completely healing. The average scores of the epithelial defect in each group are: Soaclens: 0.38 +/- 0.74; GPHCL-S: 0.63 +/- 0.52; Boston condition: 0.38 +/- 0.52; Bausch & Lomb condition: 0.25 +/- 0.46 and Duracare: 2.38 +/- 0.52. Most of the epithelial wounds healed with one exception, the eyeballs which received Duracare still had large defects. The difference of scores between Duracare and other groups are statistically significant. Duracare, which contains benzalkonium chloride, may be responsible for retarded wound healing.     

MRI of skeletal muscles in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths

A 33-day-old male infant who developed central diabetes insipitus as a complication of congenital toxoplasmosis is presented. He had polyuria and hypernatremia on admission and responded to Intranasal desmopressin acetate with the normalization of above mentioned findings. Computed tomographic (CT) scan of the brain showed obstructive hydrocephaly with periventricular and right basal ganglion calcification. CT scan of the pituitary gland, thyroid function tests, and serum cortisol levels were all normal. This is the first report of isolated diabetes insipitus with congenital toxoplasmosis in literature and central diabetes insipitus should be remembered if polyuria and hypernatremia develops in a patient with congenital toxoplasmosis.