title: MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings.
abstract: We describe the clinical and neuropathological presentation of a male with an MECP2 mutation whose sister has Rett syndrome (RS). He presented with severe neonatal encephalopathy and died at the age of 13 months. Mutation analysis of the MECP2 gene demonstrated a 488 - 489 del mutation in his and his sister's copies of the gene. Post mortem examination revealed bilateral polymicrogyria in the perisylvian region. This malformation was visibly more severe than previously described in females with RS and another male with an MECP2 mutation. As bilateral polymicrogyria was described in congenital perisylvian syndrome, the presented patient could be regarded as having suffered from a severe form of this syndrome. We conclude that MECP2 screening should be considered in males with severe neonatal encephalopathy and in males and females with a bilateral polymicrogyria syndrome.
authors.affiliation: Department of Pediatric Neurology, University Medical Center St. Radboud, Nijmegen, The Netherlands.
authors.forename: N
authors.initials: N
authors.lastname: Geerdink
authors.forename: J J
authors.initials: JJ
authors.lastname: Rotteveel
authors.forename: M
authors.initials: M
authors.lastname: Lammens
authors.forename: E A
authors.initials: EA
authors.lastname: Sistermans
authors.forename: G T
authors.initials: GT
authors.lastname: Heikens
authors.forename: F J M
authors.initials: FJ
authors.lastname: Gabreëls
authors.forename: R A
authors.initials: RA
authors.lastname: Mullaart
authors.forename: B C J
authors.initials: BC
authors.lastname: Hamel
mesh_terms: D001927:Brain Diseases / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D009154:Mutation / Q000235:genetics*; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000235:genetics* / Q000473:pathology; D012720:Severity of Illness Index
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins