1/66. 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.- - - - - - - - - - ranking = 1keywords = x (Clic here for more details about this article) |
2/66. 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.- - - - - - - - - - ranking = 1keywords = x (Clic here for more details about this article) |
3/66. 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.- - - - - - - - - - ranking = 9keywords = x (Clic here for more details about this article) |
4/66. 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.- - - - - - - - - - ranking = 9keywords = x (Clic here for more details about this article) |
5/66. 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.- - - - - - - - - - ranking = 6keywords = x (Clic here for more details about this article) |
6/66. 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.- - - - - - - - - - ranking = 4keywords = x (Clic here for more details about this article) |
7/66. Sequential withdrawal of stimulant drugs and use of behavior therapy with two hyperactive boys.The separate and combined effects of stimulant drugs, placebos, and behavior therapy were investigated with two hyperactive boys. In each case, sequential replacement of drugs (Ritalin and Dexedrine) with placebos demonstrated placebo effects of the drugs; behavior therapy, alone and in combination with drugs, was effective in controlling hyperactive behaviors. Implications in regard to drugs as treatment of choice are discussed.- - - - - - - - - - ranking = 1keywords = x (Clic here for more details about this article) |
8/66. Embryonic mania.It has been previously hypothesized that hyperactivity may be one childhood form of manic-depressive disorder. The authors contend that it is unlikely that hyperactivity in general is a childhood form of manic-depressive disorder. However, included in those considered to be hyperactive may be youngsters exhibiting an embryonic form of mania. A case of a 5-year-old boy, originally thought to be hyperactive, is presented as evidence for the existence of an embryonic stage of mania. The clinical and research necessity for differentiating between hyperactivity and embryonic mania is stressed.- - - - - - - - - - ranking = 2keywords = x (Clic here for more details about this article) |
9/66. Odd MECP2-mutated Rett variant-long-term follow-up profile to age 25.A 25-year-old MECP2-mutated female with odd developmental and dyspraxic/ataxic features, followed up through two decades, is reported. She does not fit either the classical rett syndrome or the criteria required for any Rett variant phenotypes so far described. Nevertheless, she belongs clinically to the latter group. This case deserves attention in order, among other things, to provide important clues to better understand the puzzling battery of neuroimpairments and behavioural abnormalities met in classical Rett phenotypes and Rett variants defined thus far.- - - - - - - - - - ranking = 2keywords = x (Clic here for more details about this article) |
10/66. thyroxine-induced hypermotor seizure.thyroxine-induced epilepsy is a very rare condition occurring in epileptic patients. Here we report a boy with thyroxine-induced hypermotor seizure (HMS) following thyroxine administration for his central hypothyroidism secondary to surgery and cranial radiation for his brain tumor. After 3 years seizure-free period, he had repeated HMS, seven to eight attacks per day, after initiation L-thyroxine treatment. Following reduction of the daily thyroxine dose, his seizures decreased in frequency. To our knowledge, this is the first reported case of HMS associated with L-thyroxine administration.- - - - - - - - - - ranking = 10keywords = x (Clic here for more details about this article) |
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