Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation.
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.
Leuzzi
V
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
M L
ML
Zollino
M
M
Montanaro
M L
ML
Seri
S
S
D002868:Chromosomal Proteins, Non-Histone / Q000172:deficiency / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000172:deficiency / Q000235:genetics*; D002658:Developmental Disabilities / Q000134:cerebrospinal fluid / Q000235:genetics* / Q000503:physiopathology; D004569:Electroencephalography; D004576:Electromyography; D004828:Epilepsies, Partial / Q000235:genetics*; D004830:Epilepsy, Tonic-Clonic / Q000134:cerebrospinal fluid / Q000235:genetics* / Q000503:physiopathology; D005073:Evoked Potentials, Somatosensory; D040181:Genetic Diseases, X-Linked / Q000134:cerebrospinal fluid / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008734:Methoxyhydroxyphenylglycol / Q000134:cerebrospinal fluid; D051783:Methyl-CpG-Binding Protein 2; D008831:Microcephaly / Q000235:genetics; D020190:Myoclonic Epilepsy, Juvenile / Q000134:cerebrospinal fluid / Q000235:genetics* / Q000503:physiopathology; D011596:Psychomotor Disorders / Q000134:cerebrospinal fluid / Q000235:genetics / Q000503:physiopathology; D012097:Repressor Proteins / Q000235:genetics*; D012120:Respiration Disorders / Q000235:genetics; D015518:Rett Syndrome / Q000235:genetics; D017384:Sequence Deletion; D012737:Sex Factors; D013226:Status Epilepticus / Q000209:etiology; D014741:Video Recording
D002868:Chromosomal Proteins, Non-Histone; D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins; D008734:Methoxyhydroxyphenylglycol