title: Seizures in Chédiak-Higashi syndrome. Case report.
abstract: Chédiak-Higashi syndrome is a rare hematological disease characterized by increased fusion of cytoplasmatic granules. Neurological symptoms occur in approximately half of the patients. We describe the clinical, eletrophysiological, hematological and radiological findings in a girl who had Chédiak-Higashi syndrome and seizures.
authors.affiliation: Hospital Universitário Antonio Pedro, Department of Neurology, Universidade Federal Fluminense, Brasil.
authors.forename: G R
authors.initials: GR
authors.lastname: De Freitas
authors.forename: C P
authors.initials: CP
authors.lastname: De Oliveira
authors.forename: R S
authors.initials: RS
authors.lastname: Reis
authors.forename: M R
authors.initials: MR
authors.lastname: Sarmento
authors.forename: N K
authors.initials: NK
authors.lastname: Gaspar
authors.forename: M
authors.initials: M
authors.lastname: Fialho
authors.forename: H
authors.initials: H
authors.lastname: Praxedes
mesh_terms: D002609:Chediak-Higashi Syndrome / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006801:Humans; D007223:Infant; D012640:Seizures / Q000209:etiology*