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

Neurology. 2004 Nov 23;63(10):1968-70. doi: 10.1212/01.wnl.0000144350.97844.94.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Chromosomal Proteins, Non-Histone / deficiency
  • Chromosomal Proteins, Non-Histone / genetics*
  • Codon, Nonsense
  • DNA Mutational Analysis
  • DNA-Binding Proteins / deficiency
  • DNA-Binding Proteins / genetics*
  • Developmental Disabilities / cerebrospinal fluid
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / physiopathology
  • Electroencephalography
  • Electromyography
  • Epilepsies, Partial / genetics*
  • Epilepsy, Tonic-Clonic / cerebrospinal fluid
  • Epilepsy, Tonic-Clonic / genetics*
  • Epilepsy, Tonic-Clonic / physiopathology
  • Evoked Potentials, Somatosensory
  • Genetic Diseases, X-Linked / cerebrospinal fluid
  • Genetic Diseases, X-Linked / classification
  • Genetic Diseases, X-Linked / diagnosis
  • Genetic Diseases, X-Linked / genetics*
  • Genetic Diseases, X-Linked / physiopathology
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Methoxyhydroxyphenylglycol / cerebrospinal fluid
  • Methyl-CpG-Binding Protein 2
  • Microcephaly / genetics
  • Myoclonic Epilepsy, Juvenile / cerebrospinal fluid
  • Myoclonic Epilepsy, Juvenile / genetics*
  • Myoclonic Epilepsy, Juvenile / physiopathology
  • Psychomotor Disorders / cerebrospinal fluid
  • Psychomotor Disorders / genetics
  • Psychomotor Disorders / physiopathology
  • Repressor Proteins / genetics*
  • Respiration Disorders / genetics
  • Rett Syndrome / genetics
  • Sequence Deletion
  • Sex Factors
  • Status Epilepticus / etiology
  • Video Recording

Substances

  • Chromosomal Proteins, Non-Histone
  • Codon, Nonsense
  • DNA-Binding Proteins
  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2
  • Repressor Proteins
  • Methoxyhydroxyphenylglycol