小出 玲爾

Cerebral amyloid angiopathy-related inflammation is a syndrome of reversible encephalopathy with cerebral amyloid angiopathy, however the pathology is not well understood. We clear a part of the pathology through the first case of an 80-year-old man with cerebral amyloid angiopathy-related inflammation induced by relapsing polychondritis (RP) analysis. An 80-year-old man was diagnosed with RP by auricular cartilage biopsy. Almost no abnormality including intracranial microbleeding was detected by cranial magnetic resonance image (MRI) at diagnosis. However, he developed a headache and hallucination after five months. Seven-month cranial MRI showed novel, multiple, intracranial microbleeding, especially in the bilateral but asymmetry posterior, temporal, and parietal lobes. 123I-N-isopropyl-p-iodoamphetamine single-photon emission computed tomography showed increased cerebral blood flow in the bilateral posterior lobes. After treatment, both of his neurological symptoms and increased cerebral blood flow improved to mild. Photon emission computed tomography using Pittsburgh compound B (PiB) for evaluation of brain amyloidosis at 12 months after onset showed an amyloid deposit in the bilateral frontal lobes, but a lack of uptake corresponded to the RP lesions. Our case suggests that inflammation coupled with an amyloid deposit, induced the multiple intracranial bleeding, and resulted in the lack of PiB uptake. Findings from our case show that inflammation including excess blood flow coupled with an amyloid deposit synergistically facilitate intracranial bleeding.

Some stroke patients with the acute aortic dissection receiving thrombolysis treatment resulted in fatalities. Thus, the concurrent acute aortic dissection is the contraindication for the intravenous recombinant tissue-type plasminogen activator. However, the safety and the effectiveness of the intravenous recombinant tissue-type plasminogen activator therapy are not known in patients with stroke some days after acute aortic dissection treatment. Here, we first report a case of a man with a cardioembolism due to the nonvalvular atrial fibrillation, who received the intravenous recombinant tissue-type plasminogen activator therapy 117 days after the traumatic Stanford type A acute aortic dissection operation. Without the intravenous recombinant tissue-type plasminogen activator therapy, the prognosis was expected to be miserable. However, the outcome was good with no complication owing to the intravenous recombinant tissue-type plasminogen activator therapy. Our case suggests the effectiveness and the safety of the intravenous recombinant tissue-type plasminogen activator therapy to the ischemic stroke some days after acute aortic dissection treatment.

症例は37歳男性で,軽度の精神発達遅滞と網膜色素変性症があり,歩行障害,全身強直間代痙攣発作を主訴に入院した.言語は断綴性で不明瞭,頸部を左側屈のジストニア,錐体路徴候を認めた.血中,髄液中の乳酸,ピルビン酸はやや高値であった.頭部MRIでは大脳皮質と小脳皮質がび漫性に萎縮し,両側レンズ核がT1強調画像で弱い低信号,T2強調画像で高信号を示した.遺伝子検索にてミトコンドリアDNA 8993 T to C変異を認め,neurogenic muscle weakness,ataxia,and retinitis pigmentosa(NARP)と診断した

CAG repeatの延長の程度が,DRPLAの多彩な臨床像に強く相関していることを示した

DRPLAは第12染色体上のCTG B37という名で呼ばれる遺伝子のCAGリピートの増大が原因であり,発症年齢やその多彩な病型はCAGリピート数と相関していることが明らかとなった

1994年に,本症患者の第12番染色体に局在するCAGリピートが特異的に増大していることが報告された。そこで,このCAGリピートの増大が本症の多彩な臨床像とどのように関連するかについて分子遺伝学的解析を行った。その結果,対照群ではDRPLA遺伝子のCAGリピート数は8〜35(平均15.2)であったのに対して,DRPLA患者では全例リピート数が54〜78(平均65.1)に増大していた。また,DRPLA患者の発症年齢とCAGリピート数の間に有意の相関が認められた。今回検討した15家系において,1世代あたり平均20.9歳若年化するanticipationがみられた。異常DRPLA遺伝子が父親を介して遺伝した場合22.3±3歳若年化し,母親を介した場合は17.5±2.2歳発症が若年化した