[In memoriam. Dr. François Lhermitter (1921-1998)].
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Biomedical subjects
Publications and source records attributed to L Barraquer Bordas.
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A 72-year-old right-handed patient with a hereditary coagulation impairment had a sudden disorder of consciousness with left hemiplegia and immediate collapse. CT showed a right capsulo-putaminal hematoma of about 5 cm and important mass effect. When this lesions developed, the patient had just arrived to Barcelona from Alicante . During three weeks, the outstanding and more dramatic symptom was a delirium of geographical localization, in which the patient appeared convinced that every night he was transferred, along with his attending physicians and his partner in the hospital room, from one to another of the many Hospitals de la Sta. Creu i Sant Pau (or within the same hospital) in many different cities between Alicante and Barcelona. He also gave aberrant information about his room. When he was transferred to his home, he was unable to identify it for two weeks or to locate it in any definite place. He also had a nictemeral chronological disorientation. The accompanying syndrome consisted of proportional left hemiplegia, left hemihypoesthesia, hemianopsia, and, in the neuropsychological area, mysoplegia, anosodiaphoria, impairment of visual memory, mild hemineglect, eyelid motor impersistence and constructive apraxia. Emphasis is made on the deep subcortical and to certain extent anterior topography of the causative lesion of this peculiar neuropsychological syndrome, although the possible mechanisms of remote involvement of other cerebral areas are suggested. The crucial role of the right hemisphere lesions, cortical and primarily noncortical, in the development of many variants of spatial disorders is stressed.
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BACKGROUND: Fasciculation, double discharge, myokymia and neuromyotonia are different kinds of involuntary muscular activity that originate in ectopic discharges of the motor axons. Electrophysiological studies are needed in all cases for the diagnosis. Non rigorous electrophysiological studies in some cases is the cause of the historically unclear nosological delimitation of the neuromyotonic syndromes. OBJECTIVE: To report the clinical picture and electrophysiological findings in patients with congenital neuromyotonia. PATIENTS AND METHODS: Four patients with congenital neuromyotonia were studied. Electrophysiological exam included nerve conduction measurements, study of the after-discharges and conventional EMG. Spontaneous discharges were displayed after applying a low pass filter, signal trigger and delay line. RESULTS: In one case positive motor features predominate (continuous muscle fiber activity). On the contrary, two cases, showed neuropathic deficitary signs with a Charcot-Marie-Tooth type II disease phenotype; neuromyotonia was, in both cases, an electrophysiological feature. In the last patient, motor signs were limited to the facial muscles but electrophysiological study discovered generalized neuromyotonia. Treatment with carbamazepine or oxcarbazepine was useful in the four cases. CONCLUSION: Congenital neuromyotonia is a clinically heterogeneous syndrome with uniform electrophysiological features that permit its qualification.