Multiphasic demyelinating disease involving central and peripheral nervous system in a child.
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Central Nervous System Diseases↗
Biomedical subjects
M Lo Monaco
Publications and source records attributed to M Lo Monaco.
Peripheral neuropathy with hypomyelinating features in adult-onset Krabbe's disease.
We describe three brothers suffering from Krabbe's disease with onset in the fifth decade. The proband showed a complete deficiency of leukocyte enzyme galactocerebrosidase and was found to be heterozygous for two previously described mutations: G > A809 and 502T/del consisting of a 30 kb deletion. In all three brothers the neurological examination showed features of asymmetrical peripheral neuropathy associated with pyramidal signs and the electrophysiological examination showed a generalized slowing of nerve conduction velocities. Two patients died at 59 and 61 years of age due to respiratory failure. Both the proband and his brother underwent a sural nerve biopsy. In the former the most striking finding was the presence of uniformly thin myelin sheaths without evidence of demyelination; a complete absence of fibers was found in the latter. Our findings confirm that peripheral neuropathy may be the presenting feature of late-onset Krabbe's disease. Hypomyelination rather than demyelination may represent the distinguishing pathological finding of this condition.
Adult↗
Multiperspective assessment of carpal tunnel syndrome: a multicenter study. Italian CTS Study Group.
OBJECTIVE: To assess the clinical and neurophysiologic dissociation often observed in clinical practice, and to improve patient evaluation for diagnosis of carpal tunnel syndrome (CTS). METHODS: The Italian CTS Study Group studied 1,123 idiopathic CTS hands with multiple measurements-clinical, neurophysiologic, and patient-oriented-of CTS. RESULTS: Clinical and neurophysiologic relationships were very strong when the clinical picture was evaluated by the hand functional measurements, with an exponential increase in functional impairment as the classification of neurophysiologic severity progressed. Conversely, symptoms and pain did not increase as the classification of neurophysiologic severity progressed: 1) A large part of the CTS population complained of severe symptoms, although minimal functional impairment and minimal or no electrophysiologic abnormalities were observed; and 2) symptoms improved in the patients with more severe neurophysiologic and clinical examination scenarios. CONCLUSIONS: Multiperspective and multimeasurement assessment, even when using a validated patient-oriented tool, provided interesting information that confirmed and clarified the clinical neurophysiologic dissociation often observed in carpal tunnel syndrome (CTS) patients. Furthermore, CTS appeared to be an ideal model for evaluating the importance of patient-oriented measurement.
Adult↗
Italian multicentre study of carpal tunnel syndrome: clinical-neurophysiological picture and diagnostic pathway in 461 patients and differences between the populations enrolled in the northern, central and southern centres. Italian CTS Study Group.
The economic trend in our country, as in other countries, now requires us to pay more attention to the social and economic aspects of health. Therefore, it is important to evaluate the diagnostic pathway and the socioeconomic aspects of pathologies. The Italian CTS Study Group performed a wide multicentre and multidimensional study (through a patient-, physician- and neurophysiologically oriented evaluation) on 461 idiopathic CTS patients to evaluate the clinical-neurophysiological picture and the diagnostic pathway. The whole population and the differences between the populations enrolled in the neurophysiological centres of the northern, central and southern parts of Italy were analysed. This study provided new and interesting information. As concerns the whole population, we observed different diagnostic pathways in relation to the level of schooling. As concerns the comparison of the populations, the southern centres have a population of CTS patients with higher frequency of hand stress and more severe nerve impairment.
Adult↗
Usefulness of segmental and comparative tests in the electrodiagnosis of carpal tunnel syndrome: the Italian multicenter study. Italian CTS Study Group.
The Italian CTS Study Group performed a wide multicentric and multiparametric study to quantify the increase of electrodiagnostic sensitivity using an extended neurophysiological protocol and particularly segmental and comparative tests. The study also evaluated the clinical features of carpal tunnel syndrome (CTS) diagnosed by these tests, using validated physician- and patient-oriented measurements. The study group was composed of 740 patients for a total of 1123 idiopathic CTS hands. Overall, the sensitivity of standard tests (median digit-wrist sensory conduction velocity and wrist-thenar distal motor latency) was 83.5%. Comparative/segmental tests disclosed abnormal findings in a further 11.4% of cases, providing CTS electrodiagnosis in about 7 of 10 "standard negative" cases. The overall sensitivity of the electrodiagnostic protocol was 94.9%. The CTS population diagnosed by segmental/comparative tests had a clinical picture characterized by a high percentage of pain, and severe discomfort but no limitation in functional daily activity. Our data confirm the usefulness of a complete neurophysiological assessment by using segmental/comparative tests when standard tests yield normal results.
Adult↗
Multiple paraneoplastic diseases associated with thymoma.
Here we report a patient with a lymphoepithelial thymoma who developed in chronological sequence limbic encephalitis, neuromyotonia and myasthenia gravis. The patient presented with limbic encephalitis associated with an invasive thymoma and improved after surgery and cytotoxic therapy. Two months after thymectomy, neuromyotonia associated with hyperhidrosis and mild motor neuropathy occurred and the patient was given plasma-exchange and prednisone therapy. Five months later he developed mild generalised myasthenia gravis. Anti-acetylcholine receptor antibodies, previously repeatedly negative, were found positive at the onset of clinical signs of myasthenia gravis.
Adult↗
Hereditary motor and sensory neuropathy with deafness, mental retardation, and absence of sensory large myelinated fibers: confirmation of a new entity.
We describe two brothers, 11 and 13 years old, respectively, with an early-onset hereditary motor and sensory neuropathy, deafness, and mental retardation. Electrophysiological studies showed marked reduction of motor and sensory conduction velocity and absence of sensory action potentials. Sural nerve biopsy, performed in both patients, showed absence of large myelinated fibers with normal density of small myelinated fibers without axonal degeneration. Signs of demyelination were found only in the younger patient. We suggest that motorsensory neuropathy associated with deafness and mental retardation with absence of large myelinated fibers on sural nerve biopsy represents a distinct clinicopathological entity, which is transmitted in families probably as an autosomal recessive trait.
Adolescent↗
Natural history of carpal tunnel syndrome according to the neurophysiological classification.
Although many studies on carpal tunnel syndrome (CTS) have been reported, few data on the natural history of CTS are available. Knowledge of the natural course of the disease has significant clinical and therapeutic value. We prospectively followed up 80 cases of untreated CTS. The evaluation was based on self-administered questionnaires and on neurophysiological investigation. According to the neurophysiological classification, cases of CTS were divided into six groups on the basis of impairment severity: negative, minimal, mild, moderate, severe, and extreme. Disease worsening was inversely related to severity of nerve entrapment. On the contrary, improvement was proportionally related to nerve function impairment (except for extreme cases that never improved), and about one-third of mild and moderate cases improved. Most minimally cases remained neurophysiologically unchanged. We hypothesize that in a good percentage of CTS cases, nerve impairment is self-limited. Our data suggest the utility of further studies on the natural course of this common disease.
Adult↗
Carpal tunnel syndrome: indication for surgical treatment based on electrophysiologic study.
A prospective study of 50 hands from 45 consecutive patients surgically treated for idiopathic carpal tunnel syndrome was conducted to determinate the recovery capacity of the median nerve after open surgical release. Subjects were evaluated by clinical history, physical examination, and electrophysiologic testing. Motor and sensory terminal latencies and motor and sensory conduction velocities were examined before surgery and 2 weeks, 2 months, and 6 months after surgical decompression. All patients showed improvement of postoperative electrophysiologic values; the amount of improvement was dependent on the degree of preoperative impairment. Complete restoration of clinical and electrophysiologic nerve function was observed only in patients with mild carpal tunnel syndrome.
Adult↗
Postoperative outcome related to preoperative symptomatology.
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Carpal Tunnel Syndrome↗
Neurophysiological classification of carpal tunnel syndrome: assessment of 600 symptomatic hands.
Following the AAEM electrodiagnostic guidelines, we developed a neurophysiological classification of carpal tunnel syndrome (CTS). Six hundred hands with clinical CTS (mean age 51.4 yr., female/male ratio 5.5/1, right/left ratio 1.8/1) were prospectively evaluated and divided into six classes of severity only on the basis of median nerve electrodiagnostic findings: extreme CTS (EXT-absence of thenar motor responses), severe CTS (SEV-absence of sensory response and abnormal distal motor latency-DML), moderate CTS (MOD-abnormal digit-wrist conduction and abnormal DML), mild CTS (MILD-abnormal digit wrist conduction and normal DML), minimal CTS (MIN-exclusive abnormal segmental and/or comparative study), and negative CTS (NEG-normal findings at all tests). Using this neurophysiological classification, the CTS groups appeared normally distributed (EXT 3% of cases, SEV 14%, MOD 36%, MILD 24%, MIN 21%, NEG 3%), and the age of patients and clinical findings appeared to be related to neurophysiological abnormalities. Significant differences in median neurophysiological parameters not included in the classification (such as palm-wrist sensory conduction velocity) were observed in the different CTS groups. The analysis of the groups showed that: 1) the majority of advanced cases (SEV and EXT) occurred in older patients (60-80 years), 2) most of the milder cases (MIN and MILD) occurred in young female patients. The aim of this study was to standardise the neurophysiological evaluation of CTS.
Adult↗
Ocular palsies in the absence of other neurological or ocular symptoms: analysis of 105 cases.
We studied prospectively 105 unselected patients complaining of ptosis and/or diplopia due to extrinsic ophthalmic muscle palsies without other neurological signs. All patients underwent the same diagnostic protocol. The presenting symptoms were: ptosis, 35 patients (33%); diplopia, 27 patients (26%); ptosis and diplopia, 43 patients (41%). The oculomotor nerve was most frequently involved, followed by the abducens nerve. The final diagnoses were: ocular myasthenia, intracranial and/or orbital pathology, thyroid ophthalmopathy, diabetic ophthalmoplegia, mitochondrial myopathy, oculopharyngeal muscular dystrophy. In 26 patients (25%) the cause remained undetermined. Our study confirms the difficulty of establishing an aetiological diagnosis in patients with isolated ocular palsies.
Abducens Nerve↗
Carpal tunnel syndrome: neurophysiological results of surgery based on preoperative electrodiagnostic testing.
Fifty-three hands with carpal tunnel syndrome had pre- and postoperative evaluations of median nerve distal motor latency (from wrist to thenar muscles) and orthodromic sensory nerve conduction velocity (from thumb and middle finger to wrist). At 6 months we observed a neurophysiological return to normal in all cases with normal preoperative distal motor latency and in about 50% of the hands with preoperative distal motor latency between 4 and 6 ms. Prolongation of the distal motor latency over 6 ms was not followed by return to neurophysiological normality, although some degree of sensory function was restored in the majority of cases.
Adult↗
Cochlear dysfunction in IDDM patients with subclinical peripheral neuropathy.
OBJECTIVE: To investigate the function of the auditory pathway from the cochlea to the auditory cortex in subjects with IDDM. RESEARCH DESIGN AND METHODS: Brain stem, middle-, and long-latency auditory-evoked responses and evoked otoacoustic emissions were measured in 48 normally hearing IDDM patients and in age- and sex-matched nondiabetic subjects. Peripheral neuropathy was diagnosed by nerve conduction velocity (NCV) at the peroneal and sural nerves. Auditory brain stem responses (ABRs) reflect auditory pathway function within the brain stem; middle-latency responses (MLRs) and long-latency responses (LLRs) originate from the auditory cortex; and evoked otoacoustic emissions (EOAEs) give objective information about preneural, mechanical elements of the cochlear function. RESULTS: A subclinical peripheral neuropathy was found in 12 diabetic patients. We found higher latencies of waves I (t = 4.4, P < 0.0001), III (t = 3.7, P = 0.0004), and V (t = 2.7, P = 0.008) of ABRs in diabetic patients (I: 1.7 +/- 0.13 ms; III: 3.9 +/- 0.17 ms; V: 5.7 +/- 0.24 ms), compared with those of the control group (I: 1.6 +/- 0.13 ms; III: 3.7 +/- 0.18 ms; V: 5.6 +/- 0.17 ms). However, neither central transmission time (i.e., the wave interpeak I-V) nor MLRs and LLRs were found to be significantly different in diabetic and control subjects. Mean EOAE amplitude was found to be significantly reduced (F = 4.2, P = 0.02) in diabetic patients with a reduced NCV (7.6 +/- 3.9 dB; Scheffé test: P = 0.03), but not in those without neuropathy (9.1 +/- 4.2 dB), compared with the control group (10.8 +/- 3.1 dB). No correlations were found between duration of diabetes and EOAEs or between sural NCV and peroneal NCV and metabolic control. EOAEs were not correlated with peroneal and sural NCVs. CONCLUSIONS: Our results indicate that the early preneural dysfunction of cochlear receptors causes a prolonged activation of the peripheral portion of the auditory pathway, while signal conduction along the central auditory pathway was shown to be normal in diabetes.
Adult↗
Increase of the early clinical diagnosis of carpal tunnel syndrome over the last twenty years.
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Carpal Tunnel Syndrome↗
A useful electrophysiologic parameter for diagnosis of carpal tunnel syndrome.
In 43 patients (50 hands) with clinical manifestations of mild-moderate carpal tunnel syndrome (CTS) and 36 healthy volunteers (40 hands), orthodromic sensory nerve conduction velocity (SNCV) was measured with surface electrodes in the median nerve between the third digit and palm and between the palm and wrist. These figures were used to calculate the ratio of distal to proximal conduction (distoproximal ratio). All 90 hands were also subjected to other nerve conduction studies used for diagnosis of CTS. All control hands presented distoproximal ratios < 1.0 reflecting higher conduction rates in the proximal segment. In contrast, 49 of 50 CTS hands (98%) presented reversed ratios (> 1.0) indicating compromised proximal conduction. The sensitivity of this test was significantly greater than that of other methods evaluated, including comparative studies and segmental study of the palm-wrist portion of the median nerve. Segmental study of median SNCV with calculation of the distoproximal ratio is a sensitive technique for diagnosis of CTS in patients with normal findings in standard nerve conduction studies.
Adult↗
Clinical heterogeneity of seronegative myasthenia gravis.
We studied 38 patients affected by seronegative myasthenia gravis (SNMG) with age at the onset of the disease ranging from 6 to 66 yr. Clinical follow-up lasted at least 2 yr. Patients' lymphocyte cultures showed in no case anti-acetylcholine receptor antibody production; HLA associations did not differ significantly from those in seropositive MG. In most cases (33 out of 38) the disease differed from seropositive MG only in the low incidence of thymic pathology. In five cases the clinical picture was characterized by prevalent involvement of ocular and bulbar muscles and by a more stable course. These last group of patients did not respond satisfactorily to immunosuppressants, but they clearly improved with plasma-exchange. Mice injected with plasma IgG from four patients (two with typical clinical picture and two with prevalent oculobulbar involvement) showed a defect of neuromuscular transmission. In our experience, SNMG is a heterogeneous disease. A humorally mediated pathogenesis appears to be operating in both groups of patients we described.
Adolescent↗
Autosomal recessive hypermyelinating neuropathy.
We studied three patients from two kinships, affected by early onset hereditary motor and sensory neuropathy with probable autosomal recessive inheritance (HMSN type III). Morphological studies of sural nerve biopsies revealed an abnormal myelin proliferation. Two adult patients with long-term follow up, lost ability to walk at 28 and 22 years and showed severe involvement of the cranial nerves. Our observations suggest that "hypermyelination neuropathy" with early onset is a progressive disease with poor long-term prognosis. In one kinship the occurrence of the disease in two sibs of both sexes but not in parents, is consistent with an autosomal recessive inheritance. Familial cases of hypermyelination neuropathy have not been described in previous reports. Morphological aspects of this condition are compared with other forms of hypermyelination neuropathy.
Adult↗