Biomedical subjects
Publications and source records attributed to F Cirignotta.
Two patients complained of myoclonic jerks precipitated by writing. They had suffered only sporadic seizures triggered by reading. Laboratory assessment demonstrated that typing was the most powerful stimulus in triggering spike-wave discharges associated with myoclonic seizures. Sodium Valproate (20 mg/Kg/die) led to a complete remission of seizures in both cases.
Nocturnal myoclonus (or periodic movements in sleep) consists of stereotyped sleep-related movements of the lower limbs and occasionally also upper limbs, ranging from simple dorsiflexion of the big toe and foot to a triple flexion of the entire leg. It is characterized by a typical periodicity, often occurring in association with sleep arousal phenomena. As an isolated finding (essential nocturnal myoclonus), it represents a paraphysiological phenomenon, also found in normal subjects and developing with advancing age. On the other hand, symptomatic nocturnal myoclonus is typically associated with restless legs syndrome; in this condition, it is usually severe and present also during wakefulness. The exact site of origin of nocturnal myoclonus is unknown. It is almost certainly a subcortical phenomenon, probably modulated in its periodicity by reticular influences. It has frequently been confused with, and should be clearly differentiated from, other normal jerking movements of sleep, such as partial myoclonic jerks and massive myoclonic jerks, or sleep starts. Other abnormal movements that may be confused with nocturnal myoclonus are the startles of hyperekplexia, the syndrome of painful legs and moving toes, nocturnal leg cramps, and the numerous varieties of epileptic myoclonus.
The sleep-related respiratory and blood pressure changes in a patient with Shy-Drager syndrome associated with the sleep apnoea syndrome are reported. Polygraphic recordings showed repeated apnoeic episodes during both sleep and wakefulness. Systemic arterial pressure values during sleep tended to be lower than in two other patients with Shy-Drager syndrome, and, unlike observations in the sleep apnoea syndrome, nocturnal swings of arterial pressure related to obstructive apnoea were markedly reduced. As a result, the total sleep time was reduced; a sleep with several features similar to REM stage was identified; during this stage the arterial pressure reached the lowest levels recorded. A review of the literature revealed that nocturnal respiratory disturbances were detectable in a high percentage of patients with Shy-Drager syndrome. We suggest that such an association is not a chance one.
Neurologists are becoming increasingly aware of the frequency and clinical importance of sleep-related respiratory impairment. Sleep-induced narrowing of the upper airways underlies the widespread and supposedly trivial complaint of snoring, which may not only constitute a risk factor for the cardiocirculatory system, but in predisposed individuals, may lead to a sleep apnea syndrome, with its array of serious disturbances, including hypersomnia, systemic and pulmonary hypertension and ultimately heart failure. Idiopathic chronic alveolar hypoventilation, or Ondine's curse, is a fairly stereotyped clinical syndrome: sleep-related respiratory insufficiency in the absence of airways stenosis. Finally, sleep, and REM sleep in particular, significantly aggravates hypoventilation in patients with chronic obstructive pulmonary disease (COPD), kyphoscoliosis or chest musculoskeletal disorders.
Four girls affected with the Rett syndrome showed stereotyped hand movements and psychomotor regression beginning in the first or second year of life after initially normal development, with total loss of language, a severe gait, and chewing and swallowing disturbances. Breathing during active wakefulness was abnormal, with clusters of arrhythmic, tachypneic and irregular respiratory acts, intermixed with prolonged apneic episodes causing cyanosis and even fainting. On the other hand, breathing was regular during both NREM and REM sleep stages. Breathing impairment in the Rett syndrome is characterized by an inability to maintain normal respiratory patterns during wakefulness, and represents a functional disturbance of the behavioral control of breathing, which occurs during active wakefulness.
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In four patients, calf muscular hypertrophy developed after the onset of sciatica. Hypertrophic muscles were weak and showed electromyographic signs of denervation. In all cases, calf muscle biopsy showed striking hypertrophy of type 1 and, especially, type 2 muscle fibers. This hypertrophy was associated with other signs indicating a neurogenic lesion. Muscle hypertrophy is a rare finding in neurogenic lesions. Stretch and exercise of muscle are probably the causative factors.
Three girls showed psychomotor regression arising between the 1st and 2nd year of life, after an initially normal development. Language, gait, chewing and swallowing were especially affected, whereas elementary sensory and motor functions were relatively spared. All displayed a particular disorder of breathing, which was irregular and inadequate during wakefulness, returning to normal during sleep. There are similarities between these patients and the syndrome of cerebral atrophy with hyperammonaemia, even though brain CT and biochemical studies, including ammonaemia, were all normal.
In four cases of occipital lobe epilepsy, clinical seizures and EEG discharges were evoked by darkness and/or closed eyes. In all cases the inducing factor was represented by the abolition of central vision. The importance of central vision in the excitation-inhibition process of the occipital EEG discharges is emphasized in light of the anatomophysiological organization of the visual system. Scotosensitive epilepsy and benign partial epilepsy of childhood with occipital spike-waves may represent the same clinical entity.
There have been no controlled therapeutic trials in Restless Legs Syndrome (RLS). In 6 patients with RLS, a randomized double-blind cross-over trial vs placebo showed a significant efficacy of clonazepam in improving subjective quality of sleep and leg dysaesthesia. Vibratory stimulation of the leg showed a less pronounced and non-significant effect. Clonazepam is a safe and effective drug for treatment of RLS; however its long-term efficacy needs confirmation.
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Auditory stimuli induce facilitation of the H reflex during wakefulness (so-called audio-spinal influence). In 5 subjects we found that, during SWS, the same stimuli may provoke phasic losses of muscle tone and H reflex inhibition. Similar losses of tone and H reflex inhibition were related to epileptic spikes in 3 patients.
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Three patients showing clinical and electrophysiological evidence of peripheral neuropathy also suffered from the syndrome of "painful legs and moving toes". Polygraphic recordings during wakefulness and sleep were consistent with the hypothesis that pathological afferent discharges arising peripherally may induce, via the spinal cord, motor excitation and pain. A severe disruption of the pattern of sleep was found in all cases.
In order to evaluate autonomic nervous system changes occurring before nocturnal headache attacks, we studied three subjects (one male, two females) suffering from chronic migraine. All three patients underwent a nocturnal polygraphic recording including continuous monitoring of systemic arterial pressure and heart rate. Two subjects showed increases and irregularities of arterial pressure before awakening with headache. These changes began during N-REM sleep and lasted during REM sleep preceding the awakening with headache. Heart rate did not change before the attacks. These findings do not support the hypothesis that autonomic instability during REM sleep represents the precipitating factor of the attacks.
A patient had syncope induced by swallowing. Electrocardiographic monitoring during eating and esophageal balloon inflation demonstrated a second-degree atrioventricular block (Mobitz type II) with dizziness. Radiologic and manometric examinations of the esophagus showed diffuse esophageal spasm associated with hypertension of the upper esophageal sphincter (UES), gastroesophageal reflux, and a sliding hiatal hernia. Cineradiographic observations were made during ingestion of a meal mixed with barium; at the time of cardiac dysrhythmia, the proximal part of the esophagus containing the bolus assumed a balloonlike shape, while the distal part and the UES contracted. On the basis of these observations and review of all published cases, we propose the pathways of this esophagocardiac reflex and discuss up-to-date treatment.
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