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A case of acute athetosis in a child was found to be related to phenytoin toxicity. Symptoms were intermittent and coincided with drug administration. More common toxic effects were not noted on initial evaluation of the patient.
Rasmussen's encephalitis is a rare autoimmune disorder characterized by intractable epilepsy and progressive hemispheric dysfunction. The disorder usually affects children, although cases have been reported with symptom onset in late adolescence or adulthood. Myoclonus is common in Rasmussen patients, usually occurring as part of epilepsia partialis continua (EPC); however, other hyperkinetic movements are rare. This report documents a 19-year-old woman with Rasmussen's encephalitis whose clinical presentation was dominated by foot dystonia, arm athetosis, and EPC. Intravenous immunoglobulin improved both hyperkinetic movements and EPC, but benefit was transient. The clinical significance and implications of these findings are discussed.
Congenital nephrotic syndrome of the Finnish type (NPHS1, CNF) is an autosomal recessively inherited disease occurring due to mutations in the nephrin gene (NPHS1). Two main Finnish mutations exist: Fin-major and minor, which both cause a lack of nephrin and absence of the slit diaphragm between the podocytes. This leads to severe proteinuria, nephrotic syndrome and infections, and without dialysis or renal transplantation, death in infancy. Between 1984 and 2003, six (8.6%) of the 70 NPHS1 patients diagnosed at our institution had, in addition to their renal disease, similar neurological symptoms. All six showed a severe dyskinetic cerebral palsy-like syndrome with dystonic features, athetosis and a hearing defect. The neurological symptoms became apparent during their 1st year of life and were diagnosed before 11 months of age. MRI showed increased signal intensity in T2-weighted images in the globus pallidus area. No mitochondrial gene mutations explaining the neurological symptoms were found, nor did external neurological complications explain them when compared with 29 NPHS1 control patients. Four children died at an early age: two during dialysis and two shortly after renal transplantation. Two are still alive with a functioning graft. Both have severe motor defects, but are mentally active and social.
A 6-year-old girl with pachygyria was presented. Regions of pachygiria were seen in the frontal, temporal, and parietal areas in vivo by magnetic resonance imaging. She showed athetosis, mental retardation, deafness, short stature, and microcephalus, but did not show epilepsy. A combination of these symptoms may be a new clinical entity, caused by undetermined prenatal events.
A case of typhoid fever with neuropsychiatric features is described. These comprised confusion and delirium, meningism, a single major convulsion and bilateral athetoic movements. Athetosis has not previously been described in typhoid fever and must now be added to the long list of neuropsychiatric manifestations of this disease.
Bilateral cervical posterior rhizotomy of C1 through C4, C5 or C6 was performed in 16 patients affected by dystonia and athetosis resulting from infantile cerebral palsy. The majority showed decreased muscle spasms and athetoid movements, with some improvements in their posture and voluntary mobility. 5 patients suffered from uneven and irregular breathing associated with lethargy immediately postoperatively, and 4 also showed reduced diaphragmatic activity; all 4 of these patients developed pneumonia, transitory in 3, but fatal to the other. Urinary retention lasting for a maximum of 3 months occurred in 4 of the 5 patients. The authors suggest that the lesion of ascending reticular fibers in the cervical posterior roots could have been responsible for the observations.
An Indian man with Wernicke's encephalopathy had nystagmus, pupillary changes and confusion, but the unusual and prominent features in his presentation were marked dystonia and choreo-athetosis, which responded rapidly to thiamine. The possible pathogenesis is discussed.
Two patients suffering from dystonia and athetosis have been treated by means of chronic electrical stimulation of the paleocerebellum and were followed for over two and a half years. One of the patients showed signs of slight improvement, while no improvement at all was observed in the other patient. Some observations and problems are discussed.
A 5-year-old child with epilepsy and underlying brain damage developed choreo-athetosis during intoxication with phenytoin. Drug intoxication was suggested by the dose the child was taking (75 mg 3 times a day) and confirmed by measuring the serum phenytoin concentration which was 229 mmol/l (therapeutic range 40-80 mmol/l). The choreoathetoid movements ceased 4 weeks after discontinuation of the drug, although the blood level returned to the therapeutic range after 2 weeks.
We describe 8 patients who presented with continuous, irregular movements occurring independently in individual fingers and, in some cases, toes, in the setting of mild dystonia present since early childhood and not associated with major disability. The finger movements varied from low-amplitude quivering or wriggling to larger amplitude movements in the plane of abduction-adduction as well as flexion-extension; they were asymmetrical but not unilateral. Quivering or working of the facial muscles was seen in 5 patients. Most patients reported worsening of the movements over the years, but there was no other evidence of a progressive neurological disease. We classify the movement disorder as athetosis as described by Hammond and Shaw and the syndrome as mild athetoid cerebral palsy.
Although it is known that extrapyramidal function is dependent upon a balance between cholinergic and dopaminergic effects, only anti-dopaminergic substances commonly induce extrapyramidal symptoms. This paper describes a patient who ingested chlorpyrifos and presented with choreo-athetosis and depressed cholinesterases. She responded to atropine therapy and made a complete recovery. Although not often described excessive cholinergic activity may also produce extrapyramidal symptoms.
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