A Sporadic Case of Fabry Disease Involving Repeated Fever, Psychiatric Symptoms, Headache, and Ischemic Stroke in an Adult Japanese Woman

作者：Sawada Jun^*; Katayama Takayuki; Kano Kohei; Asanome Asuka; Takahashi Kae; Saito Tsukasa; Chinda Junko; Nakagawa Naoki; Sato Nobuyuki; Kimura Takashi; Yahara Osamu; Momosaki Ken; Nakamura Kimitoshi; Hasebe Naoyuki

来源：Internal Medicine, 2015, 54(23): 3069-3074.

DOI：10.2169/internalmedicine.54.4719

• Fabry disease
• ischemic stroke
• aseptic meningitis
• psychiatric symptom
• chronic inflammation
• sporadic

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 alpha-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.

• 出版日期2015