title: West syndrome in a patient with balanced translocation t(X;18)(p22;p11.2).
abstract: We describe a case of West syndrome with the balanced translocation t(X;18)(p22;p11.2). Treatment with high-dose vitamin B6, adrenocorticotropic hormone, thyrotropin-releasing hormone, and antiepileptic compounds was not effective, and the patient exhibited persistent refractory seizures and severe developmental delays. Although no mutation analysis and X chromosome inactivation were performed, we suggest that the chromosomal abnormality in the present patient is the main etiologic factor responsible for the infantile spasms and severe developmental delay.
authors.affiliation: Department of Pediatrics, Shiga University of Medical Science, Otsu, Shiga, Japan. shie@belle.shiga-med.ac.jp
authors.forename: Shie
authors.initials: S
authors.lastname: Akabori
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Takano
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Fujito
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Takeuchi
mesh_terms: D001921:Brain / Q000503:physiopathology*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D017354:Point Mutation / Q000235:genetics; D012720:Severity of Illness Index; D013036:Spasms, Infantile / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D014178:Translocation, Genetic