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NEUROLOGY 2004;63:1968-1970
© 2004 American Academy of Neurology
Brief Communications

Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation

V. Leuzzi, MD, M. L. Di Sabato, MD, M. Zollino, MD, M. L. Montanaro, MD and S. Seri, MD

From the Department of Child Neurology and Psychiatry (Drs. Leuzzi and Di Sabato), University of Rome "La Sapienza"; Department of Medical Genetics (Dr. Zollino), Catholic University School of Medicine of Rome; and Pediatric Neurology Department of Neurosciences (Drs. Montanaro and Seri), University of Tor Vergata, Rome, Italy.

Address correspondence and reprint requests to Dr. Vincenzo Leuzzi, Department of Child Neurology and Psychiatry, University of Rome "La Sapienza," Via dei Sabelli 108, 00185 Rome, Italy; e-mail: vincenzo.leuzzi{at}uniroma1.it

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.

Received April 17, 2004. Accepted in final form July 6, 2004.


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