The patient was a 64-year-old man presented with difficulty in walking, articulation, and swallowing, as well as cognitive impairment. He had refractory microcytic anemia and diabetes mellitus. His serum levels of iron, copper, and ceruloplasmin were low. Magnetic resonance imaging suggested iron deposition in the basal ganglia, thalami, cerebellar dentate nuclei, and cerebral and cerebellar cortices. He was diagnosed with aceruloplasminemia after a ceruloplasmin gene analysis. Iron chelation therapy with deferasirox improved his anemia and cerebellar symptoms, which included dysarthria and limb ataxia. The present study and previous reports indicate that cerebellar symptoms with aceruloplasminemia might respond to deferasirox in less than one year.
〔日内会誌 104:1160~1166,2015〕 ポイント ・ PACNS(primary angiitis of the central nervous system)は若年性脳梗塞の原因となり得 る. ・RCVS(reversible cerebral vasoconstriction syndrome)と鑑別が困難な症例がある. ・ 脳生検や脳血管造影で偽陰性となる場合があり,複数の血管支配域にわたる脳梗塞では PACNSを考慮する必要がある. ・ PACNSが疑われた場合,早期にステロイドパルスなどの免疫療法を開始し,治療反応性や 臨床経過から鑑別を進める. Key words primary angiitis of the CNS(PACNS) ,reversible cerebral vasoconstriction syndrome (RCVS) ,若年性脳梗塞,脳血管造影,ステロイドパルス 〔第 605 回関東地方会(2014/05/10)推薦〕 〔受稿 2014/12/15,採用 2015/02/25〕 筑波大学医学医療系神経内科学 Case Report;Juvenile cerebral infarction due to primary angiitis of the central nervous system.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.