1/95. Hemichorea and hemiballism associated with contralateral hemiparesis and ipsilateral basal ganglia lesions. We report on two patients with unilateral hyperkinetic movement disorders associated with contralateral hemiparesis and ipsilateral basal ganglia lesions. The first patient, a 47-year-old woman, had a low-grade astrocytoma located in the right basal ganglia extending into the subthalamic area and the cerebral peduncle. She presented with left hemiparesis, right hemichorea, and intermittent right-sided tremor at rest. The second patient, a 85-year-old woman, had hypertensive hemorrhage to the right posterior basal ganglia, the posterior limb of the internal capsule, the lateral thalamus, and the subthalamic region with accompanying intraventricular bleeding. She developed right-sided transient hemichorea-hemiballism. A videotape illustration of one of the patients is provided. The literature on the rare occurrence of ipsilateral hemichorea-hemiballism is discussed and possible pathomechanisms are reviewed. We postulate that hemiparesis contralateral to basal ganglia lesions might have a conditioning effect on the appearance of ipsilateral dyskinetic movement disorders. ( info) |
| Three patients with hemichorea/hemiballismus/hemidystonia caused by discrete contralateral infarction of the corpus striatum are presented. The infarcts were all small on CT or MRI brain scan and were lacunar in type. Small discrete infarction of basal ganglionic structures allows such adventitious movements to be manifested. Involvement of contiguous areas, seen with larger infarcts, can suppress such movements. The infrequency of such hyperkinetic movement disorders, and the subtle infarct appearance on brain scan, can lead to a delay in the diagnosis. ( info) |
3/95. Successful chemotherapeutic treatment of diencephalic syndrome with continued tumor presence. A 7-month-old infant with typical features of diencephalic syndrome (DES) associated with a hypothalamic mass, most probably a glioma, was treated with chemotherapy. The tumor showed clear shrinkage, but after more than 2 years regrowth was noted. During the treatment period the child regained normal growth and became free of symptoms. As radiation therapy, especially at a young age, has significant adverse effects and a neurosurgical approach to the diencephalic region also has the potential to cause significant sequelae, a chemotherapeutic option, when it exists, is preferred. Thus, in an infant in whom a glioma is suspected to be the cause of the DES, based on the clinical picture and the neuroimaging appearance, chemotherapy should be considered the primary therapeutic modality. Even if its effect is temporary, its use is well justified. The most appropriate treatment protocol still needs to be determined. ( info) |
4/95. The first case of 4-hydroxybutyric aciduria in japan. We report a boy with 4-hydroxybutyric aciduria resulting from a deficiency of succinic semialdehyde dehydrogenase (SSADH). A boy, 1 year 5 months, showed delayed walk with hypotonia and could not speak meaningful words. The blood levels of lactate, pyruvate and amino acids were not elevated. head magnetic resonance imaging (MRI) and electroenchephalography (EEG) were normal. Urinary organic acid analysis with gas chromatography-mass spectrometry (GCMS) revealed increased levels of 4-hydroxybutyric acid, glutaric acid, adipic acid and suberic acid. The concentrations of 4-hydroxybutyric acid and gamma-aminobutyric acid (GABA) were elevated in the serum and cerebrospinal fluid (CSF). SSADH activity in cultured lymphoblasts was 4.5% of the normal level. So far as we know this is the first Japanese patient diagnosed as 4-hydroxybutyric acid. Urinary organic acid analysis is necessary for the diagnosis of patients with unexplained psychomotor retardation. ( info) |
5/95. Probable neonatal propoxyphene withdrawal: a case report. A baby with neonatal withdrawal from propoxyphene as evidenced by severe diarrhea, flapping tremors, shrill cry, diaphoresis, hypertonicity, and seizures is presented. Propoxyphene and its metabolites were identified in the patient's serum and urine. We express concern about the wide use of propoxyphene and its proposed use in substitution programs for detoxifying and maintaining heroin addicts in view of the possibility of neonatal complications. ( info) |
6/95. Hyperkinetic movement disorder in an 11-year-old child treated with bilateral pallidal stimulators. Pallidal stimulation is widely used in the treatment of movement disorder in adults but is less well reported in the treatment of dystonia in children. Despite inconsistent results in the past, its use in dystonia in Parkinson's disease is again attracting interest with promising results. Bilateral as well as unilateral pallidotomies have been performed and are felt to be required in some cases of dystonia. Use of depth electrodes to provide long-term electrical stimulation to pallidum and other basal ganglia structures has recently become more widespread. This technique is felt to have a lower morbidity, especially in bilateral procedures. Here we present the case of an 11-year-old boy with severe hyperkinetic movement disorder who showed sustained improvement after bilateral pallidal stimulation implantation. ( info) |
7/95. genetic variation of the extra-large stimulatory G protein alpha-subunit leads to Gs hyperfunction in platelets and is a risk factor for bleeding. Alternatively spliced GNAS1 and XL-GNAS1, encoding respectively the stimulatory G-protein alpha-subunit (Gsalpha) and the extra-large stimulatory G-protein alpha-subunit (XLsalpha), are located on the imprinted chromosomal region 20q13.12-13. We presently report a functional polymorphism in the imprinted XL-GNAS1 gene. In three patients, a 36 bp insertion and two basepair substitutions flanking this insertion were found in the paternally inherited XL-GNAS1 exon 1. They clinically manifest an enhanced trauma-related bleeding tendency and a variable degree of mental retardation. A platelet aggregation inhibition test to evaluate Gs function was developed. Their platelets display Gs hyperfunction and an enhanced cAMP generation upon stimulation of Gs-coupled receptors. The prevalence of the XLsalpha insertion in a normal control group was 2.2%. Normal controls, inheriting the insertion maternally, had a normal platelet Gs activity, whereas controls inheriting the insertion paternally had increased inducible platelet Gs activity, defining the insertion as a functional polymorphism. This paternally inherited XLsalpha insertion represents a new genetic cause of an inherited bleeding tendency, although to a variable degree. ( info) |
8/95. The late neurological, psychological, and social aspects of severe traumatic coma. Thirty patients who had survived a heavy head trauma and a post-traumatic coma, lasting for more than one week, were investigated 8 to 14 years after the trauma. The patients have been followed up from a social, psychological, and neurological point of view. Fifty per cent of these patients are considered to be well rehabilitated. All the investigated patients showed slight to severe reduction in mental capacity. Eighty per cent of the patients had neurological defects which were not as important with respect to social rehabilitation as was the mental capacity reduction. ( info) |
9/95. A behavioral-educational alternative to drug control of hyperactive children. A behavioral procedure for controlling hyperactivity without inhibiting academic performance is described. Using a time-sample observational method, the hyperactivity displayed by three school children was recorded during math and reading classes. Concurrently, math and reading performances were measured. The study consisted of two baselines, one while the children were on medication and the second while they were off medication. A multiple-baseline design across the two academic subject matters was used to assess the behavioral intervention, which consisted of token reinforcement for correct academic responses in math and subsequently math and reading. Discontinuation of medication resulted in a gross increase in hyperactivity from 20% to about 80%, and a slight increase in math and reading performance. Introduction of a behavioral program for academic performance, during no medication, controlled the children's hyperactivity at a level comparable to that when they were on drugs (about 20%). At the same time, math and reading performance for the group jumped from about 12% during baseline to a level of over 85% correct. Each child performed behaviorally and academically in an optimal manner without medication. Contingency management techniques provided a feasible alternative to medication for controlling hyperactivity in the classroom while enabling the children to grow academically. ( info) |
10/95. Malignant McLeod myopathy. Mild myopathy is a common manifestation of the X-linked McLeod neuroacanthocytosis syndrome. We present a patient with McLeod syndrome and a primarily subclinical myopathy, who developed severe rhabdomyolysis with renal insufficiency after a prolonged period of excessive motor restlessness due to an agitated psychotic state and a single dose of clozapine. Other possible causes for rhabdomyolysis such as prolonged immobility, trauma, hyperthermia, generalized seizures, toxin exposure, or metabolic changes were excluded. Clinical course was favorable, with persistent slight elevation of serum creatine kinase levels caused by the underlying myopathy. Our findings suggest that McLeod myopathy is a predisposing factor for severe rhabdomyolysis. This possibly life-threatening condition should be added to the clinical spectrum of McLeod syndrome, and serum creatine kinase levels should be carefully monitored in patients with this syndrome, particularly if a hyperkinetic movement disorder is present or neuroleptic medication is used. ( info) |