Paediatria Croatica, Vol. 58 No. 4, 2014.
Recenzija, Prikaz slučaja
https://doi.org/10.13112/PC.2014.49
Distinctive phenotype in a girl with Rett syndrome and a novel 25 bp deletion mutation in exon 4 (c.881_905del25, nm_004992.3) of the MECP2 gene
Matej Katavić
; Klinička bolnica Sestre Milosrdnice
Monika Kukuruzović
Maša Malenica
Sara Seneca
Ljerka Cvitanović-Šojat
Sažetak
Rett syndrome is a pervasive developmental disorder with a variable clinical presentation, which is caused by point mutations or
large deletions/duplications in the X-linked methyl-CpG-binding protein 2 (MECP2) gene. The aim is to describe variation in the
clinical course related to the mutation identifi ed in exon 4 of the MECP2 gene. Retrospective review of data, electroencephalography
and treatment was done in a 19-year-old girl previously diagnosed with a MECP2 gene mutation. Born after an uneventful pregnancy,
the female patient’s growth and psychomotor development were normal, except for delayed speech. At the age of 3 years,
tonic-clonic seizures started and at the age of 3.5 years autistic behavior was observed, followed by rapid mental deterioration, loss
of speech and motor skills, with periods of hyperventilation. At the age of 5 years, she showed occasionally „hand-washing“
movements. Extensive neuro-metabolic investigation was nondiagnostic. Genetic analysis revealed a novel 25 bp deletion mutation
in exon 4 (c.881_905del25) of the MECP2 gene. Until now, multiple epileptic seizure types, refractory to all antiepileptic polytherapy
and with normal video EEG background, have occurred daily. She is spastic and ataxic, but still able to walk slowly with a
wide based gait. In this female patient, the onset of symptoms manifested much later than encountered in typical cases of
Rett syndrome. Epilepsy with daily frequency is however drug resistant. Unexpectedly, she is still able to walk at the age of 19
years. A genotype-phenotype correlation is suspected.
Ključne riječi
Rett Syndrome; MECP2 protein, human; mutation; epilepsy
Hrčak ID:
142340
URI
Datum izdavanja:
23.12.2014.
Posjeta: 1.388 *