Diagnosis and treatment of the Lesch-Nyhan syndrome.
Explore the source record for details and available documents.
SEARCH · Search PubMed
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Similar movement disorders developed in two 8-year-old retarded children while they were receiving phenytoin. Seizures subsequent to a diphtheria-pertussis-tetanus immunization had developed in each child at 1 to 2 months of age. A static encephalopathy ensued, characterized by mental retardation, ataxia, spasticity, and a mixed seizure disorder. Intermittent dystonia and choreoathetosis developed insidiously while serum phenytoin concentrations were in the therapeutic range. Sustained dystonia and choreoatheosis developed 2 hours after an oral provocation with phenytoin. The baseline abnormalities on the electroencephalogram remained unchanged during the choreoathetosis. Recognizable metabolic abnormalities known to be associated with similar movement disorders were excluded. It was concluded from these studies that the movement disorder is secondary to phenytoin and can occur at therapeutic serum concentrations. Phenytoin is a central anticholinergic agent and a central stimulant of serotonin, and may induce movement disorders as a result of altering these neurotransmitters in the brain. The variable expression of these movement disorders may relate to the nature of the preexisting striatal insult.
A family with four affected members showed a stereotyped unilateral neurologic deficit. The disorder was characterized in each member by congenital left hemiparesis, with subsequent development of left hemihypoplasia and athetoid posturing of the left hand. Although the proband was initially considered a "cerebral palsy" victim, the autosomal dominant pattern and the stereotyped clinical features in all affected family members suggest a hereditary process. Hereditary factors may be an uncommon cause of static unilateral neurologic motor defects.
We present a family with infantile onset of progressive choreoathetosis. The movements affected the legs predominantly and also impaired gait. No dementia, seizures, or rigidity was noted. Inheritance was autosomal dominant. This new familial movement disorder can be differentiated easily from other hereditary choreas.
A boy with glutaric acidemia had psychomotor retardation first noted at age 6 months, recurrent metabolic acidosis, and a progressive quadriparesis with choreoathetosis. He died at age 3 1/2 years. Cultured skin fibroblasts lacked glutaryl-CoA dehydrogenase activity. There was a biochemical, but not a clinical, response to dietary restriction of lysine and tryptophan. The caudate and putamen of the brain showed severe loss of nerve cells and fibers with proliferation of astrocytes, as well as markedly reduced gamma-aminobutyric acid and glutamate decarboxylase activity.
We studied five patients with paroxysmal kinesigenic choreoathetosis (PKC) to evaluate the minimum effective plasma concentration of phenytoin. In two children, the minimum concentration necessary to control symptoms approximated the concentrations necessary to control epileptic seizures. In three adults, symptoms were controlled with concentrations of phenytoin well below the therapeutic range of phenytoin in epilepsy. These findings suggest an age-dependent change in the disease state, and support the concept that the clinical course of PKC may be explained by delayed maturation of extrapyramidal systems.
To see whether duration of disease or of levodopa treatment was responsible for gradual worsening of parkinsonian patients, 58 persons treated with levodopa were classified into three groups based on predopa disease duration. Data over 6 years of treatment showed that disease duration was the determining factor. Patients matched for disease duration had similar disability scores regardless of duration of therapy. Matched for therapy duration, patients with longer disease duration had consistently higher disability scores. Side effects showed no differences between groups and did not increase over time. In sum, delaying therapy fails to improve disability in the early years of disease and does not confer any benefit in later years.
A patient with paroxysmal dystonic choreoathetosis also had familial ataxia. His brother was similarly affected but had rare paroxysmal episodes. No secondary or symptomatic forms of this type of paroxysmal dyskinesia have ever been reported. Episodes were briefly controlled with acetazolamide and were almost completely eliminated by clonazepam therapy.
Ten days after accidental exposure to carbon monoxide, a 17-year-old youth developed transitory choreoathetosis of both arms, face, and neck, with moderate dysarthria. CT revealed symmetric bilateral infarction in the head of the caudate nucleus, the putamen, and the small parts of the anterolateral globus pallidus.
We examined longitudinal disability scores in 54 patients with Parkinson's disease followed for 6 years at UCLA. We sorted data into 3 groups based on age at onset of symptoms: group A, onset under 50 years; group B, 50 to 59 years; group C, 60 years or older. There were no significant differences between groups initially. All 3 groups improved dramatically when levodopa was given, but group A showed significantly less disability in years 4, 5, and 6 than did group C. The groups did not differ with respect to side effects. To determine if age at onset affected mortality, we sorted records from 4 geographically diverse centers into the same 3 groups. Results on 359 patients followed for 3,314 person-years, covering a period of 17 years after onset of symptoms, showed that group A had the most favorable observed-to-expected mortality ratio, 1.82, compared with 2.17 and 2.20 for groups B and C respectively, but the difference was not statistically significant. Results from the disability analyses indicate that patients with onset of Parkinson's disease under 50 years of age may have a more favorable prognosis than those whose symptoms begin in later years.
We describe seven patients with cocaine-induced movements, including choreoathetosis, akathisia, and parkinsonism with tremor. All were seen in 2 years at a municipal hospital, during which 701 visits were attributed to complications of cocaine. Dopaminergic changes are hypothesized to cause euphoria, addiction, and abnormal movements.