[Cervical spinal cord infarction caused by the use of epidural morphine].
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Aged↗
Biomedical subjects
J Arpa
Publications and source records attributed to J Arpa.
[Recurrent amyotrophic neuralgia with an unusual clinical expression. Clinical and electrophysiological study].
Neuralgic amyotrophy (NA) is an entity with great variability in its neurological expression. The patient reported here developed symptoms of NA one year before admission, with anterior interosseous nerve palsy. At the time of examination she reports pain in the left upper limb followed by sensory loss over lateral antebrachial cutaneous nerve. Electrophysiologic examination showed signs of chronic denervation in the right anterior interosseous nerve muscles, and reduced amplitude of the sensory nerve action potential of the left lateral antebrachial cutaneous nerve. This case confirms the variety of the nerve involvement in NA, and suggests axonal focal lesions of nerve fascicles or individual peripheral nerve affectation.
Adult↗
Bilateral carpal tunnel in childhood associated with Schwartz-Jampel syndrome.
The case of a 7-year-old girl, the only descendant of non-consanguineous parents, who presented typical features of the Schwartz-Jampel syndrome and electrophysiological evidence of bilateral carpal tunnel is reported. Conventional electromyogram (EMG) showed persistent and continuous electrical activity and high frequency discharges elicited spontaneously by movement of the needle or after voluntary activation. Electrical silence after phenytoin therapy was sometimes seen. Single fiber electromyography (SFEMG) showed that high frequency discharges had a complex configuration and multiple components. Occasionally the discharges showed a progressive decrease in amplitude. Increased jitter was also found in some potential pairs that had been isolated under voluntary contraction after phenytoin therapy. Motor and sensory conduction velocities on the median nerve were slowed bilaterally across the carpal tunnel. Bilateral carpal tunnel syndrome is an unusual condition in children and its clinical picture differs from that in adults. Carpal tunnel syndrome was not clinically suspected in the patient reported in this article and the diagnosis was confirmed by the conduction velocity study.
Abnormalities, Multiple↗
[Major clinical aspects of Friedreich ataxia. Study of 23 cases].
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Adolescent↗
[Hypersomnia and thalamic and brain stem stroke: a study of seven patients].
BACKGROUND AND AIM: Thalamic and brainstem strokes are a cause of organic hypersomnia. In thalamic lesions it has been attributed to disruption of ascending activating impulses from the brainstem reticular formation and to insufficient spindling and slow-wave production, which depends upon activities of reticular thalamic nucleus and thalamocortical neurons, respectively. Reported sleep disorders in brainstem lesions have occasionally been contradictory and that is because of the presence of nearby structures in the brainstem with different functions in sleep-waking cycle. The aim of the study is to present the results of polysomnographic records in patients with thalamic and/or brainstem vascular lesions, and to correlate them with the anatomical structures affected. PATIENTS AND METHODS: We have performed a polysomnographic study, (8-channel system), in patients with thalamic and/or brainstem strokes. All of them showed alterations of sleep-wake cycle. Neuroimaging studies were carried out in all patients. RESULTS: We report seven patients, 4 males and 3 females. Two cases presented thalamic strokes, in 3 the lesion was located in the brainstem and 2 patients had thalamo-mesencephalic lesions. All of them developed hypersomnia with an increase of NREM sleep. In patients with bilateral mesencephalic lesions we found that REM sleep was diminished as well. CONCLUSIONS: We have confirmed that lesions affecting thalamus and mesencephalic or pontine tegmental reticular formation are a cause of hypersomnia. The observation that this sleepiness is transient, supports the evidence of an extrathalamic alternative activating route.
Adult↗
Spanish family with Machado-Joseph disease: neurophysiological features and neuropathy study.
OBJECTIVES: We have carried out electrophysiological studies and sural nerve biopsy evaluation in a Spanish family with genetically proven Machado-Joseph disease (SCA3/MJD) phenotype III. PATIENTS AND METHODS: Two symptomatic and other two asymptomatic members of the family were clinically examined. Electrophysiological evaluation included multimodal evoked potentials, quantitative electromyography and nerve conduction studies, and central motor conduction time. We also report neuropathological findings in the sural nerve biopsy in the proband. RESULTS: Analysis of the SCA3/MJD CAG trinucleotide repeat at the ataxin 3 gene in the DNA of the proband and one of his daughters demonstrated an expanded allele of 63 CAG repeat units. Ataxic pursuit was primary disturbed in MJD, followed by gaze evoked nystagmus, hypermetric saccades and glissades. Limitation of vertical and horizontal gaze, impaired sinusoidal vestibulo-ocular reflex and vestibulo-ocular reflex-fixation-suppression, and active and passive optokinetic nistagmus loss appeared at later stages. Evoked potential studies showed multimodal abnormalities. Electrophysiological and sural nerve biopsy findings correspond well to a pattern of both anterior horn and root ganglion cell distal dominant degeneration. Central motor conduction time was normal in our patients up to advanced stages of the disease. CONCLUSIONS: Electrophysiological and neuropathological studies suggested widespread peripheral and central affection in MJD. Repeated application of electrophysiological techniques may prove useful for monitoring disease progress.
Adult↗
Disability in multiple sclerosis. The role of transcranial magnetic stimulation.
Transcranial magnetic stimulation (TMS) was used to measure intensity threshold, conduction of the central motor pathways (CMCT) and amplitude of the motor evoked potentials (MEPs) in 50 patients with definite form of multiple sclerosis (MS), 31 females and 19 males, aged 15 to 58 years (mean 31.9 +/- 9.8). Abnormalities in at least one parameter after TMS have been found in 76% of the cases. Interside CMCT asymmetries increased the diagnostic yield to 86% of the patients. Three MS individuals with normal clinical examination have prolonged CMCT (silent lesions). There was significant correlation between CMCT and evolution of the disease, and with the degree of pyramidal signs. CMCT correlated with cerebral motor pathway, pons, and cervical cord lesions in MRI study. TMS is an easy and reliable method to quantify pyramidal and cerebellar dysfunction in MS and monitoring the evolution of the disease.
Adolescent↗
[Acute encephalopathy with myoclonus caused by phenytoin. Apropos of a case].
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Anticonvulsants↗
Single fiber electromyography (SFEMG) in mitochondrial diseases (MD).
Conventional EMG, nerve conduction studies and SFEMG were performed in 18 patients with various phenotypes of MD. 14 cases showed findings consistent with mild myopathy, 2 patients signs of sensory-motor axonal neuropathy and 2 cases a mixture of myopathy and axonal neuropathy. Motor unit fiber density was mild increased in 8 out of 13 tested cases. Jitter was abnormal in 10 out of 18 tested patients. Jitter abnormalities were not related to myopathic or neurogenic features in the EMG study, and may be observed in muscles without clinical weakness. The results suggest the existence of neuromuscular transmission disturbances in patients with MD.
Adolescent↗
Follow-up study after replantation of the forearm and nerves resuture.
OBJECTIVE: Clinical and electrophysiological evolution after total section of the forearm and nerves resuture. MATERIAL AND METHODS: A young boy aged 14 years with accidental amputation of the right forearm. The forearm was replanted within the first 6 hours after accident. Electromyography, nerve conduction, estimated number of the motor units, single fiber EMG and motor complex reflex responses were studied until 4 years after surgery. RESULTS: Functional recovery was reached in muscles innervated by median and ulnar nerves. After 4 years of evolution EMG showed signs of chronic neuropathy. Nerve conduction did not reach normal values. Single fiber EMG showed increased fiber density and jitter, and intermittent impulse blocking The estimated number of the motor units was severely reduced with high mean amplitude. Motor reflex responses were elicited by cutaneous stimulation consistent with axon reflexes or ephatic responses. CONCLUSIONS: Replanted limbs in selected cases and nerve's resuture may reach a functional recovery for daily activities.
Adolescent↗
[Our experience with Kufs disease: familial form and sporadic case].
Our experience on Kufs' disease includes a familiar, neurovisceral form and a sporadic case. The familiar form shows an autosomal, dominant inheritance, and belongs to Berkovic's type B. A variability on the age of onset was observed, being more protracted in women. The sporadic case belongs to Berkovic's type A. Her EEG showed a periodic, short-interval, activity for a long period of illness. NMR findings were nonspecific for the diagnosis. All cases showed granular osmiophilic deposits, but not storage characterized by fingerprint profiles. Visceral storage in many cases on Kufs' disease suggests the utility of visceral biopsy evaluation for the diagnosis during life.
Adult↗
Hypertrophic branchial muscles. clinical, electrophysiological and histopathological features in a case.
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Adult↗
Multimodal evoked potentials in multiple system and late onset cerebellar atrophies.
Forty subjects were clinically examined using scales for cerebellar, pyramidal, parkinsonian, and mental status and by quantitative evaluation of neuroimages. The patients were classified into two groups: cerebellar-plus and "pure" cerebellar syndromes. Patients with "pure" cerebellar syndrome were diagnosed as autosomal dominant cerebellar ataxia III (ADCA III) or "pure idiopathic" late-onset cerebellar ataxia (ILOCA) in this series. Patients with cerebellar-plus syndrome were diagnosed as multiple system atrophy (MSA), subclassified as either ILOCA-plus, ADCA I, ADCA II or autosomal recessive LOCA. We have used visual (VEP), brainstem auditory (BAEP) and somatosensory (SEP) evoked potentials in order to establish their diagnostic validity. Cerebellar-plus syndrome and "pure" cerebellar syndrome showed overlapping VEP, BAEP and SEP abnormalities. VEP P100 latency, however, shows a certain ability to differentiate between the two groups (p = 0.08) and appears useful in distinguishing between sporadic cerebellar-plus syndromes (MSA or ILOCA-plus) and "pure" cerebellar syndromes (p < 0.02). The incidence of prolonged N9-N13 latency was significantly higher in the latter subgroup (p < 0.04) as well. Within cerebellar-plus syndromes, VEP, BAEP and SEP abnormalities were more frequent in inherited cases (ADCA I and II, along with autosomal recessive LOCA) than in sporadic ones. The most apparent differences were a higher incidence of abnormal BAEPs at brainstem level (p < 0.002), and of both peripheral and possible central SEP impairment in hereditary cerebellar-plus syndrome than in sporadic cerebellar-plus syndrome (p < 0.03). EP investigation is useful to a certain extent in differentiating between some variants of LOCA.
Adult↗
Electro-oculogram in multiple system and late onset cerebellar atrophies.
The present investigation uses electrooculogram to evaluate multiple system atrophy (MSA) and late onset cerebellar atrophies (LOCAs), both idiopathic (ILOCA) and late onset autosomal dominant cerebellar ataxia (ADCA). Forty cases were clinically examined using scales for cerebellar, pyramidal, parkinsonian, mental status and neuroimaging quantitative evaluations. The patients were classified into three groups: olivopontocerebellar atrophy (OPCA), striatonigral degeneration (SND), Shy-Drager syndrome (SDS), and LOCA. We have used direct current electro-oculography in order to establish their validity in making the diagnosis. Cerebellar signs were significantly correlated with impaired VOR-fix gain and OKN, abnormalities of saccades, and reduced smooth pursuit gain (p < 0.05). Pons atrophy was significantly correlated with impaired VOR-fix gain (p < 0.01), abnormalities of saccades (p < 0.01), and reduced smooth pursuit gain (p < 0.05). Cerebellar hemisphere atrophy was significantly correlated only with impaired VOR-fix gain (p < 0.05), and medulla oblongata atrophy only with abnormalities of saccades (p < 0.05). Gaze-evoked nystagmus was found in 42.8% of patients with OPCA, and only in 14.2% with SND, but was not found in LOCA patients (t test, p < 0.05). In patients with OPCA, the combination of gaze-evoked nystagmus, abnormalities of sinusoidal VOR and reduced OKN gain measurements was very frequent, while infrequent in both LOCA (Fisher's exact test, p < 0.05) and SND subjects (p < 0.01). SDS also showed abnormalities of the oculomotor system.
Adult↗
Cerebrotendinous xanthomatosis diagnosed after traumatic subdural haematoma.
We report the case of a 34-year old man, who, after presenting with subacute traumatic subdural haematoma, was diagnosed as CTX. He presented a ten year history of progressive deterioration of cognitive functions, unsteadiness of gait and surgery for bilateral cataracts at age 21. Cholestanol level in serum was 120.7 mmol/liter, and cholestanol/cholesterol ratio 2.52%. Bile alcohols in urine were 23, 25-pentol: 2.2665 mg/mmol creatinine, 24, 25-pentol: 1.3226 mg/mmol creatinine, and 27-nor-24, 25-pentol: 0.7363 mg/mmol creatinine. Electrophysiological study was consistent with a mixed demyelinating and axonal neuropathy. The assessment of autonomic nervous system (ANS) showed a postganglionic cholinergic failure accompanying somatic peripheral neuropathy. Brain-stem auditory evoked potentials (BAEPs) demonstrated markedly low amplitude and poorly defined waves, and almost symmetrical peak V and I to V interpeak latency (IPL) slight delays. Two nodular, bilateral, symmetrical lesions, strongly suggestive of calcifications, in the cerebellar white matter on CT and MRI were noted. On T2-weighted images diffuse high signal lesions were found in the cerebellar white matter, and multiple, hyperintense cerebral foci of demyelination or gliosis. MRI study of the Achilles tendon showed neither enlargement of the tendon, nor areas of lipid deposits. After ten months of treatment with chenodeoxycholic acid (CDCA) (750 mg/d) the clinical course was unaffected and the neurophysiological measures, CT and MRI remained unchanged.
Adult↗