title: A Sporadic Case of Fabry Disease Involving Repeated Fever, Psychiatric Symptoms, Headache, and Ischemic Stroke in an Adult Japanese Woman.
abstract: Fabry disease can cause various neurological manifestations. We describe the case of a Japanese woman with Fabry disease who presented with ischemic stroke, aseptic meningitis, and psychiatric symptoms. The patient had a mutation in intron 4 of her α-galactosidase A gene, which was not detected in her family. This case suggests that Fabry disease should be considered in young patients who exhibit central nervous system symptoms such as ischemic stroke, even if there is no family history of the condition. The episodes of aseptic meningitis and stroke experienced by our patient suggest that persistent inflammation might be the mechanism underlying Fabry disease.
authors.affiliation: Division of Cardiology, Nephrology, Pulmonology, and Neurology, Department of Internal Medicine, Asahikawa Medical University, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Sawada
authors.forename: Takayuki
authors.initials: T
authors.lastname: Katayama
authors.forename: Kohei
authors.initials: K
authors.lastname: Kano
authors.forename: Asuka
authors.initials: A
authors.lastname: Asanome
authors.forename: Kae
authors.initials: K
authors.lastname: Takahashi
authors.forename: Tsukasa
authors.initials: T
authors.lastname: Saito
authors.forename: Junko
authors.initials: J
authors.lastname: Chinda
authors.forename: Naoki
authors.initials: N
authors.lastname: Nakagawa
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Sato
authors.forename: Takashi
authors.initials: T
authors.lastname: Kimura
authors.forename: Osamu
authors.initials: O
authors.lastname: Yahara
authors.forename: Ken
authors.initials: K
authors.lastname: Momosaki
authors.forename: Kimitoshi
authors.initials: K
authors.lastname: Nakamura
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Hasebe
mesh_terms: D000328:Adult; D002545:Brain Ischemia / Q000150:complications / Q000235:genetics*; D003863:Depression / Q000235:genetics; D000795:Fabry Disease / Q000150:complications / Q000235:genetics*; D005260:Female; D005334:Fever / Q000209:etiology / Q000235:genetics*; D006261:Headache / Q000209:etiology / Q000235:genetics*; D006801:Humans; D008582:Meningitis, Aseptic / Q000209:etiology / Q000235:genetics*; D020521:Stroke / Q000209:etiology / Q000235:genetics*