Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An epidemic of bismuth (Bi)-related neurotoxicity in France remains poorly understood, partly because no satisfactory animal model exists. We have now characterized such a model. Single or multiple intraperitoneal injections of Bi subnitrate into female mice produced neurologic signs (myoclonus, ataxia, tremors, convulsions) and blood (1.2 micrograms/g) and brain (8.4 micrograms/g) Bi levels like those in human cases. Hydrocephalus and axonal swellings in spinal cord were the major neuropathologic lesions.
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PMID:Characterization of a murine model for human bismuth encephalopathy. 324 42

Dementia--a syndrome of acquired intellectual deterioration--is an etiologically non-specific condition which is permanent, progressive, or reversible. In the evaluation of demented patients, a careful exposure history will determine the possible role of drugs, metals, or toxins. The physical examination may reveal focal deficits in cases of intracranial mass lesions and spasticity or ataxia of the lower limbs if hydrocephalus is present. Coexistance of dementia and peripheral neuropathy usually indicates a toxic or metabolic disorder. Asterixis, myoclonus, and postural tremor are common in toxic-metabolic dementias, while resting tremor, choreoathetosis, and rigidity occur in progressive extrapyramidal disorders. EEG is focally abnormal in cases of cerebral mass lesions and exhibits generalized slowing in toxic-metabolic encephalopathies. CT will aid in the identification of hydrocephalus, subdural hematomas, and intracranial mass lesions. A thorough laboratory evaluation including complete blood count, erythrocyte sedimentation rate, electrolytes, blood urea nitrogen and blood sugar, liver and thyroid tests, calcium and phosphorus levels, B12 and folate levels, serum copper and ceruloplasmin, VDRL, chest X-ray, electrocardiogram, and lumbar puncture may demonstrate treatable disorders that are adversely affecting intellectual function. Elderly individuals are particularly susceptible to the effects of toxic or metabolic disorders, and a mild dementia might be exaggerated by relatively minor fluctuations in metabolic status. Treatable causes of dementia should be considered in all demented patients.
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PMID:[Treatable dementia syndromes]. 358 48

Dementias which are either reversible or avoidable are discussed in the light of the literature. The frequency is between 6 and 32%. The most important etiological groups are immunological vasculopathies, hyperlipidemia, some types of encephalitis and, mainly, progressive dementia of the insane, benign tumors and in particular meningioma, low pressure hydrocephalus, intoxications due to drugs, industrial products and alcohol, metabolic disturbances, encephalopathy in dialysed patients, ileo-jejunal-bypass encephalopathy and encephalopathy due to neoplasms. Dementias are also seen in endocrinological disturbances and particularly in hypothyroidism. Vitamin B12 and folate deficiency, as well as epilepsy, may be causes of dementia. Depression may mimic a state of dementia. Some features of reversible dementias are listed, including in particular the somewhat more rapid onset, the younger age of patients, and accompanying neurological symptoms such as headache, gait disturbances, ataxia, polyneuropathy, myoclonus or epileptic fits.
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PMID:[Reversible and preventable dementias]. 361 87

Dementia, a syndrome of acquired intellectual deterioration, is an etiologically nonspecific condition that can be permanent or reversible. When evaluating demented patients, a careful exposure history will determine the possible role of drugs, metals, or toxins. Physical examination may reveal focal deficits in cases of intracranial mass lesions and spasticity or ataxia of the lower limbs if hydrocephalus is present. Coexistence of dementia and a peripheral neuropathy usually indicates the existence of a toxic or metabolic disorder. Depressed mood, sleep disturbance, anorexia, impotence, constipation, and psychomotor retardation indicate the presence of a depressive syndrome. Asterixis, myoclonus, and postural tremor are common in toxic-metabolic dementias, whereas resting tremor, choreoathetosis, or rigidity occur in progressive extrapyramidal disorder. EEG is focally abnormal in cases of cerebral mass lesions and shows generalized slowing in toxic-metabolic encephalopathies. CT will aid in the identification of hydrocephalus, subdural hematomas, and intracranial mass lesions. A thorough laboratory evaluation including complete blood count, erythrocyte sedimentation rate, electrolytes, blood urea nitrogen and blood sugar, liver and thyroid function tests, serum calcium and phosphorus levels, B12 and folate levels, serum copper and ceruloplasmin, VDRL, chest X-ray, electrocardiogram, and lumbar puncture may demonstrate treatable disorders that are adversely affecting intellectual function. Elderly individuals are particularly susceptible to the effects of toxic or metabolic disorders, and a mild dementia may be exaggerated by relatively minor fluctuations in metabolic status. Treatable causes of dementia should be sought in all demented patients.
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PMID:Treatable dementias. 635 58

Case-1: A 4 month old, 7120 g, girl with hydrocephalus underwent endoscopic fenestration of the septum pellucidum. Her development had been normal without signs or symptoms of intracranial hypertension. She had no history of convulsion or apnea. Ventriculoscopic diagnosis was complete obstruction of the right foramen of Monro and partial defect of right ependyma. Intraoperative course was uneventful under general anesthesia. She had two episodes of respiratory arrest accompanied with myoclonus and the left conjugate deviation 15 min after extubation. Postoperative CT scan showed no abnormal findings such as intracranial hemorrhage. The respiratory arrest and conjugate deviation disappeared after phenobarbital administration. She had no further respiratory arrest. Case-2: A 1-month old boy with congenital hydrocephalus underwent endoscopic third ventriculostomy. He had no signs or symptoms of intracranial hypertension. CT scan showed enlargement of lateral ventricle and third ventricle due to aqueductal stenosis. Respiratory arrest was noted 10 min after extubation in the recovery room. His anterior fontanel sank abnormally and rigidity of the extremities was observed. His trachea was reintubated and he was transferred to ICU. After 24 h of respiratory care in the ICU he was extubated and discharged to the ward. He had no further episodes of respiratory arrest. We believe that postanesthetic apnea monitoring is mandatory in young infants who undergo ventriculoscopic surgery.
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PMID:[Respiratory arrest after a ventriculoscopic surgery in infants: two case reports]. 909 21

The disease is named after George H. Whipple who, in 1907, was the first to describe an intestinal "lipodystrophy". Although Whipple's disease is generally recognized as a multisystem chronic granulomatous disease, primarily involving the digestive system, it can also appear as a primary neurological disorder in rare cases. Most often it is manifested with loss of weight, diarrhea, malabsorption, abdominal pain, lymphadenopathy, cardiopathy, hyperpigmentation and hypotension. The presence of periodic acid-Schiff (PAS)-positive macrophages in biopsy specimens (not only jejunal) and demonstration of "Whipple's bacilli" visible by electron microscopy, are diagnostic signs of active Whipple's disease. Whipple's disease confined to the CNS is rare. It is rarely found in the differential diagnosis of patients with progressive neurological deterioration. The most common neurological picture includes progressive dementia, external ophalmoplegia, myoclonus, seizures, ataxia, hypothalamic dysfunction (sleep disorders, hyperphagia, polydipsia) and meningitis. Oculofacial-skeletal myorhythmia as a movement disorder, associated with Whipple's disease, is reported. Fulminant course of cerebral Whipple's disease is unusual and unfavourable. The confusing and nonspecific clinical appearance is typical for primary CNS involvement. It has recently been suggested that CNS involvement occurs in all cases, although only 10-20% of patients may show it. The CNS is the most common site of disease relapse. The CT scans and MRI of the brain are often normal, but may show cortical/subcortical atrophy, hydrocephalus, focal or intracerebral mass lesions. The cerebrospinal fluid can sometimes contain PAS-positive macrophages. Brain biopsy is suggested as a diagnostic method in cases of high suspicion of CNS Whipple's disease. However, the lesions are frequently inaccessible and false negative. Without extended antibiotic therapy, the course of Whipple's disease is lethal. Now, the prognosis is good, although the optimal antimicrobial regimen is not clearly established. Initial parenteral therapy (tetracycline, penicilline, streptomycine, chloramphenicol, ampicilline) and peroral long-term treatment with trimetoprime-sulphametoxasole, are recommended. As CNS relapse of Whipple's disease may occur after several years, long-term treatment should include antibiotics that are able to cross the blood-brain barrier. The CNS relapse, in contrast to the systemic ones, is resistant to the treatment. Appropriate therapy instituted earlier in the course of the disease is associated with a better neurological outcome. Early recognition can be critical in Whipple's disease because of irreversible neurological sequelae seen later in the course of this potentially treatable condition. In cases with high clinical suspicion in which Whipple's disease cannot be diagnosed with procedures such as jejunal biopsy, antibiotic therapy is recommended. Recovery of an established neurological deficit may rarely occur. Longterm follow-up studies would help to identify the optimal antibiotic regimen and duration of treatment.
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PMID:[Neurologic disorders in Whipple's disease]. 910 28

Determining the precise cause of gait dysfunction in adults is often difficult because of the multifactorial nature of the disorder. Additionally, elderly patients have other comorbidities that further complicate their diagnosis. A proper history and physical examination, however, often allow the clinician to arrive at the correct diagnosis. Once a diagnosis is reached, appropriate therapeutic decisions can be made. Patients presenting with Parkinsonism need a thorough evaluation to rule out potentially reversible conditions, such as normal pressure hydrocephalus. Patients with idiopathic Parkinson's disease usually develop gait difficulty and freezing episodes late in the course of the illness. Another important cause of gait disturbance in adults is the cerebellar ataxias. Among the sporadic forms, gluten sensitivity is an important consideration. Identification of this entity is important, because the disease process can be halted with a gluten-free diet. Another group is the paraneoplastic ataxias, which can often be diagnosed in the proper clinical setting. Most of the adult-onset hereditary ataxias are autosomal dominant conditions. Except for the episodic ataxias, treatment of these conditions has been disappointing. Mixed results have been obtained with the use of amantadine, buspirone, and 5-hydroxytryptophan. Physical therapy plays an important role in the gait rehabilitation of these patients. Over the past several years, researchers have developed a greater understanding of motor control and how it relates to freezing. Clinicians can now train patients to use external cues to overcome their motor blocks. Another important advance has been the development of subthalamic nucleus deep brain stimulation in the treatment of patients with troublesome peak dose dyskinesia and other motor fluctuations. Subthalamic nucleus deep brain stimulation should be considered when best medical treatment fails. Cortical myoclonus can be treated with levetiracetam, which has US Food and Drug Administration approval as an antiepileptic agent. It has been quite effective in the treatment of myoclonus and should be considered when other medications fail.
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PMID:Gait and Balance Dysfunction in Adults. 1262 66

Alexander's disease, a rare and fatal disorder of the central nervous system, most commonly affects infants and young children but can also occur in older children and sometimes adults. In infants and young children, it causes developmental delay, psychomotor retardation, paraparesis, feeding problems, usually megalencephaly, often seizures, and sometimes hydrocephalus. Juvenile cases often do not have megalencephaly and tend to have predominant pseudobulbar and bulbar signs. In both groups, characteristic magnetic resonance imaging findings have been described. In adult cases, the signs are variable, can resemble multiple sclerosis, and might include palatal myoclonus. In all cases, the examination of brain tissue shows the presence of widely distributed Rosenthal fibers. Almost all cases have recently been found to have a heterozygous, missense, point mutation in the gene for glial fibrillary acidic protein, which provides a new diagnostic tool. In most cases, the mutation appears to occur de novo, not being present in either parent, but some adult cases are familial.
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PMID:Alexander's disease: clinical, pathologic, and genetic features. 1457 41

Whipple's disease is a rare multisystemic infection caused by the intracellular bacteria Thropheryma whippelii. Central nervous system (CNS) involvement is not rare. The most frequent CNS manifestations are cognitive and behavioural changes, sopranuclear ophtalmoplegia, myoclonus, epilepsy, ataxia, meningitis and focal cerebral palsy. We report one case of cerebral localization of Whipple's disease with a clinical presentation of recurrent endocranic hypertension and hydrocephalus, and uncommon neurological symptoms, successfully treated by endoscopic third ventriculostomy and antibiotic therapy with ceftriaxone and Trimethoprim-Sulfamethoxazole.
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PMID:Recurrent acute obstructive hydrocephalus as clinical onset of cerebral Whipple's disease. 2053 89

Acute cerebellar ataxia and acute cerebellitis represent a process characterized by parainfectious, postinfectious, or postvaccination cerebellar inflammation. There is considerable overlap between these entities. The mildest cases of acute cerebellar ataxia represent a benign condition that is characterized by acute truncal and gait ataxia, variably with appendicular ataxia, nystagmus, dysarthria, and hypotonia. It occurs mostly in young children, presents abruptly, and recovers over weeks. Neuroimaging is normal. Severe cases of cerebellitis represent the other end of the spectrum, presenting with acute cerebellar signs often overshadowed by alteration of consciousness, focal neurological deficits, raised intracranial pressure, hydrocephalus, and even herniation. Neuroimaging is abnormal and the prognosis is less favorable than in acute cerebellar ataxia. Acute disseminated encephalomyelitis may be confused with acute cerebellitis when the clinical findings are predominantly cerebellar, but lesions on neuroimaging are usually widespread. Paraneoplastic opsoclonus-myoclonus syndrome is often initially misdiagnosed as acute cerebellar ataxia, but has very specific features, course, and etiopathogensis.
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PMID:Acute cerebellar ataxia, acute cerebellitis, and opsoclonus-myoclonus syndrome. 2280 51


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