| Autor: |
Leuzzi V; Department of Child Neurology and Psychiatry, University of Rome La Sapienza, Via dei Sabelli 108, 00185 Rome, Italy. vincenzo.leuzzi@uniroma1.it, Di Sabato ML, Zollino M, Montanaro ML, Seri S |
| Jazyk: |
angličtina |
| Zdroj: |
Neurology [Neurology] 2004 Nov 23; Vol. 63 (10), pp. 1968-70. |
| DOI: |
10.1212/01.wnl.0000144350.97844.94 |
| Abstrakt: |
The authors report the unusual clinical and neurophysiologic features of a sporadic case of a boy carrying an 806delG mutation on the MECP2 gene. A 28-month-old boy was examined for severe developmental delay, seizures, microcephaly, breathing dysfunction, and spontaneous and evoked myoclonic jerks of upper limbs. Neurophysiologic study proved the cortical origin of myoclonus; however, it was not associated with signs of cortical hyperexcitability. 3-Methoxy-4-hydroxy-phenylethylene glycol and valine concentrations were low in CSF. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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