Infantile convulsions and choreoathetosis

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Infantile convulsions and choreoathetosis
Other namesParoxysmal kinesigenic dyskinesia and infantile convulsions
Infantile convulsions and choreoathetosis is inherited via an autosomal dominant manner

Infantile convulsions and choreoathetosis (ICCA) syndrome is a neurological genetic disorder with an

anticonvulsants. This genetic disease has been mapped to chromosome 16p-q12.[3] More than 30 families with the clinical characteristics of ICCA syndrome have been described worldwide so far.[4][5]

Presentation

The specific and familial association of BIFE and PKC defines a novel clinical entity : the infantile convulsions and choreoathetosis syndrome. The first observation was made in four families where children were affected with nonfebrile

convulsions at age 3–12 months. Partial epileptic seizures started with a psychomotor arrest and a deviation of the head and eyes to one side, followed inconstantly by unilateral jerks. In some cases, seizures generalized secondarily. None of the interictal electroencephalograms showed epileptiform abnormalities, and magnetic-resonance imaging were normal. These convulsions had a favorable outcome. At 5–8 years of age affected children developed abnormal movements. They presented with twisting movements of the hands of a reptilian type when stressed or embarrassed. They also developed jerky movements of the legs after running. Initially, abnormal movements were intermediate in speed between quick and slow, typical of paroxysmal choreoathetosis. Combinations of abnormal movements involving the arms, legs, trunk and occasionally the head were observed. The attacks lasted only a few minutes, occurring with a frequency of 5-30 episodes per day and were not accompanied by unconsciousness. In all patients, abnormal movements disappeared at 25–30 years of age without any treatment. Since the first report similar clinical presentations have been published which confirm the specificity of the ICCA syndrome.[6][7]

Genetics

In affected individuals presenting with the ICCA syndrome, the human genome was screened with

recombination fraction of 0. The disease gene has been mapped at chromosome 16p12-q12. This linkage has been confirmed by different authors.[8][9][10][11] The chromosome 16 ICCA locus shows complicated genomic architecture and the ICCA gene remains unknown.[citation needed
]

Diagnosis

Management

References

  1. PMID 19047496
    .
  2. ^ Szepetowski et al. 2007. In Fejerman N. eds. Benign focal epilepsies in infancy, childhood and adolescence. Paris. John Libbey Eurotext : 51-62
  3. PMID 9382100
    .
  4. ^ Rochette J. et al. 2010. Epileptic Disorders 12 : 199-204
  5. ^ Striano P. et al. 2006. Epilepsia 47 : 1029-1034
  6. ^ Carabello R. et al. 2002. Am J Hum Genet 68 : 788-794
  7. ^ Thiriaux A. et al. 2002. Mov Disord 17 : 98-104
  8. ^ Lee WL. et al. 1998. Hum Genet 103 : 608-612
  9. ^ Hatori H. et al. 2000. Brain Dev 22 : 432-435
  10. ^ Tomita H. et al. 1999. Am J Hum Genet 65 : 1688-1697
  11. ^ Svoboda KJ. et al. 2000. Neurology 55 : 224-230

External links

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