A Sporadic Case of Fabry Disease Involving Repeated Fever, Psychiatric Symptoms, Headache, and Ischemic Stroke in an Adult Japanese Woman
著者
澤田, 潤
(Sawada, Jun)
片山, 隆行
(Katayama, Takayuki)
鹿野, 耕平
(Kano, Kohei)
浅野目, 明日香
(Asanome, Asuka)
高橋, 佳恵
(Takahashi, Kae)
齋藤, 司
(Saito, Tsukasa)
珍田, 純子
(Chinda, Junko)
中川, 直樹
(Nakagawa, Naoki)
佐藤, 伸之
(Sato, Nobuyuki)
木村, 隆
(Kimura, Takashi)
箭原, 治
(Yahara, Osamu)
百崎, 謙
(Momosaki, Ken)
中村, 公俊
(Nakamura, Kimitoshi)
長谷部, 直幸
(Hasebe, Naoyuki)
上位タイトル
Internal Medicine
Vol.54,
No.23
(2015.
12)
,p.3069-
3074
識別番号
ISSN
0918-2918
DOI
10.2169/internalmedicine.54.4719
その他
PMID：26631895
抄録
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.
