1/14. Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.The authors report two twin sisters, age 15 years, with recessive gtp cyclohydrolase deficiency, who presented with neonatal onset of rigidity, tremor, and dystonia but with no other symptoms suggestive of a diffuse CNS involvement. The plasma phenylalanine levels were normal. Treatment with L-dopa/carbidopa, started at age 1 year, was associated with sustained recovery from all neurologic signs. The patients were homozygous for a new recessive mutation in the GHI gene.- - - - - - - - - - ranking = 1keywords = rigidity (Clic here for more details about this article) |
2/14. Idiopathic hemiparetic parkinsonism, a syndrome distinct from idiopathic parkinsonism.Two women had a syndrome of progressive parkinsonism with ipsilateral rigidity, mild resting tremor, paresis, hyperreflexia, and an extensor plantar response. Symptoms had started 24 and 3 months after a surgical procedure in the affected limb. neuroimaging studies were unhelpful. Both the parkinsonian features and the pyramidal tract signs responded well to dopaminergic drug treatment. We propose that the syndrome be called "idiopathic hemiparetic parkinsonism".- - - - - - - - - - ranking = 1keywords = rigidity (Clic here for more details about this article) |
3/14. Hyperekplexia and sudden neonatal death.Fifteen patients with hyperekplexia were identified in 3 families; diagnostic clinical characteristics were defined which allowed for early recognition and treatment. During the first 24 hours of life, spontaneous apnea and sluggish feeding effort were observed. After the first 24 hours, surviving infants exhibited the hyperekplexic startle response to nose tapping. This startle response is characterized by sudden muscular rigidity, feeding-induced oropharyngeal incoordination, and poor air exchange often with apnea, persisting with repetitive nose tapping. Untreated infants experienced recurring apnea until 1 year of age. Three of 15 patients died unexpectedly during the neonatal period. patients treated with clonazepam (0.1-0.2 mg/kg/day) had no serious apneic episodes and startle reflexes were diminished. The pathophysiologic mechanism for hyperekplexia remains obscure. Electroencephalographic studies were consistently normal. The response to and tolerance of benzodiazepines are striking in newborns and infants and suggest an aberrant central nervous system reflex as the etiology; therefore, hyperekplexia should be considered in the evaluation of neonates and infants with apnea, aspiration pneumonia, episodic muscular rigidity, hyperexcitability, and near-miss sudden infant death syndrome. The need for immediate monitoring of at-risk infants, observation for signs of hyperekplexia, and initiation of clonazepam in these patients are emphasized. Hyperekplexic startle response to nose tapping should be included in the routine examination of all newborns.- - - - - - - - - - ranking = 2keywords = rigidity (Clic here for more details about this article) |
4/14. baroreflex failure: a rare complication of carotid paraganglioma surgery.Multiple head and neck paragangliomas are a rare occurrence. We report a patient with removal of bilateral carotid paragangliomas who subsequently developed baroreflex failure 1 month after surgery. The pathology and physiology of this presentation is extremely interesting because it exhibits the complex homeostatic mechanisms involved in the maintenance of steady-state blood pressure. Although rare, it is important to be aware of baroreflex failure and its variable course. Most postsurgical cases occur within days of surgery but, as this report demonstrates, hypertensive urgency can occur weeks to months after surgery; and if not recognized early, it can lead to disastrous postoperative complications such as stroke and myocardial infarction.- - - - - - - - - - ranking = 0.00044784942757941keywords = state (Clic here for more details about this article) |
5/14. Mechanisms of hyperventilation in head injury: case report and review.We report the case of a head-injured patient with spontaneous hyperventilation who had recurrent episodes of relative hypoventilation associated with increases in intracranial pressure. Detailed ventilatory studies were performed during the 2nd week after injury. Our findings in this patient prompted us to review the possible mechanisms underlying the observed changes. We suggest that spontaneous hyperventilation in head injury is secondary to a decrease in cortical inhibitory influences on respiratory control mechanisms and that the transient episodes of relative hypoventilation observed in our patient may reflect modified ventilatory responses dependent on the altered state of consciousness. (neurosurgery, 5: 701--707, 1979).- - - - - - - - - - ranking = 0.00044784942757941keywords = state (Clic here for more details about this article) |
6/14. Unexpected improvement after prolonged posttraumatic vegetative state.An 18-year-old girl suffered a severe head injury in a traffic accident. As a result, she was vegetative for about 21/2 years. She then showed signs of a gradually returning responsiveness. Six years after the accident, she is now able to comprehend and communicate, shows considerable interest in her surroundings and is able to establish interpersonal relationships. Moreover, the improvement is still continuing. Her severe contractures, however, prevent her from making full use of these regained mental capacities. Such a mental recovery after such a long-lasting vegetative state of traumatic origin has not previously been described.- - - - - - - - - - ranking = 0.0022392471378971keywords = state (Clic here for more details about this article) |
7/14. Comatose state maintained during eight years following a vascular ponto-mesencephalic lesion.A 24-year-old man survived for 8 years after a vascular lesion of the pons and midbrain. During these years a subresponsive comatose state with neurological signs extending from the oculomotor nuclei to the trigeminal and facial nuclei levels was present. A decorticated type of rigidity, with bilateral paralysis of the limbs accompanied by pyramidal signs, was also present. The EEG during the first months showed slow activity which afterwards gradually changed towards fast and alpha activities, maintained in the course of the years. The pathological diagnosis was a fibrous endarteritis, mainly in the territory of the basilar and vertebral arteries. The pons and midbrain, presenting a large cystic infarct, were serially studied to determine the anatomical extent of the lesion. After reviewing other examples from the literature, the clinical features of our case are discussed. The evolution of the EEG is related to different structures of the ponto-mesencephalic region with different functional activities.- - - - - - - - - - ranking = 1.0022392471379keywords = rigidity, state (Clic here for more details about this article) |
8/14. Hyperekplexia.Hyperekplexia is a hereditary neurologic disorder manifested by an exaggerated startle response, generalized muscular rigidity, and prominent nocturnal myoclonus. The distinctive features of this syndrome constitute an unusual clinical entity that is easily mistaken for other disorders. The study of a family provided additional data on various aspects of this condition. The proband was 3 months old when he was referred for persistent generalized stiffness since birth; this stiffness was associated with an exaggerated startle response and intermittent apnea. Similar symptoms in infancy and prominent nocturnal myoclonus with an excessive startle response in adulthood were described in other family members for five generations. Various features of the disorder indicate a relationship to the syndrome of the "jumping Frenchmen of maine," latah, miryachit, and other unusual startle reactions.- - - - - - - - - - ranking = 1keywords = rigidity (Clic here for more details about this article) |
9/14. kuru with incubation periods exceeding two decades.The clinical characteristics of kuru in 15 patients are described. All the patients had a history of joint pains preceding difficulty walking. The severity of the neurological dysfunction varied from mild truncal and limb ataxia necessitating the use of a stick for walking to terminal illness accompanied by marked ataxia, rigidity, spasticity, and dementia. All the patients with kuru in this study had a apprehensive, frightened facial expression. Most of the patients examined showed diminished or absent optokinetic nystagmus bilaterally. Apprehensive facies and diminished optokinetic nystagmus have not previously been described in kuru. The other clinical features of the current patients with kuru are similar to those recorded twenty years ago. Epidemiological surveillance, anamnesis, and missionary reports strongly suggest that all the patients described in this study were exposed to the kuru agent more than two decades ago through ritualistic cannibalism. Thus the incubation period or time interval from exposure to the onset of clinical illness exceeds two decades, while the duration of illness is two years or less. The cause of these extraordinarily long incubation periods is unknown but may result in part from exposure to small doses of the kuru agent through an inefficient oral route.- - - - - - - - - - ranking = 1keywords = rigidity (Clic here for more details about this article) |
10/14. A patient with reflex myoclonus and muscle rigidity: "jerking stiff-man syndrome".A patient with progressive muscular rigidity associated with reflex myoclonus is described. The muscular rigidity was predominantly axial, and the myoclonic jerks affected axial and leg muscles. Jerks occurred either spontaneously, or in response to touch to the perioral region, or to stretch of head and neck muscles. Physiological investigations suggested that the myoclonus originated in the medulla and was mediated by fast-conducting pathways upwards through the brainstem and down the spinal cord. The relationship of this condition to other types of muscular rigidity with and without myoclonus is discussed.- - - - - - - - - - ranking = 7keywords = rigidity (Clic here for more details about this article) |
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