- 循環障害の場合:還流障害により虚血に陥りapoptosisへ。
- 代謝異常の場合:異常代謝産物が神経節細胞に蓄積してapoptosisに陥る。
WordNet
- any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues
- a disorder of lipid metabolism; abnormal levels of certain fats accumulate in the body
- mark with a spot or spots so as to allow easy recognition; "spot the areas that one should clearly identify"
- a small piece or quantity of something; "a spot of tea"; "a bit of paper"; "a bit of lint"; "I gave him a bit of my mind" (同)bit
- a small contrasting part of something; "a bald spot"; "a leopards spots"; "a patch of clouds"; "patches of thin ice"; "a fleck of red" (同)speckle, dapple, patch, fleck, maculation
- a business establishment for entertainment; "night spot"
- a playing card with a specified number of pips on it to indicate its value; "an eight-spot"
- a mark on a die or on a playing card (shape depending on the suit) (同)pip
- a section of an entertainment that is assigned to a specific performer or performance; "they changed his spot on the program"
- a short section or illustration (as between radio or tv programs or in a magazine) that is often used for advertising
- make a spot or mark onto; "The wine spotted the tablecloth" (同)fleck, blob, blot
- detect with the senses; "The fleeing convicts were picked out of the darkness by the watchful prison guards"; "I cant make out the faces in this photograph" (同)recognize, recognise, distinguish, discern, pick out, make_out, tell apart
- become spotted; "This dress spots quickly"
- of a color at the end of the color spectrum (next to orange); resembling the color of blood or cherries or tomatoes or rubies (同)reddish, ruddy, blood-red, carmine, cerise, cherry, cherry-red, crimson, ruby, ruby-red, scarlet
- red color or pigment; the chromatic color resembling the hue of blood (同)redness
- any of numerous trees and shrubs producing a small fleshy round fruit with a single hard stone; many also produce a valuable hardwood (同)cherry_tree
- wood of any of various cherry trees especially the black cherry
- a red fruit with a single hard stone
- the syllable naming the second (supertonic) note of any major scale in solmization (同)ray
- a tributary of the Mississippi River that flows eastward from Texas along the southern boundary of Oklahoma and through Louisiana (同)Red River
PrepTutorEJDIC
- 『斑点』(はんてん),まだら,ぶち;(太陽の)黒点 / 『しみ』,よごれ;吹出物,にきび / (…に対する)汚名,汚点《+『on』+『名』》 / 『場所』,地点;部分,箇所 / (順序・組織における)位置;立場,おかれた状況 / 《a spot》《英話》(…の)少量,ちょっぴり(の…);(…の)1杯《+『of』+『名』》 / (ラジオ・テレビ番組の)構成区分 / …‘を'『しみで汚す』,‘に'汚れをつける;…‘に'斑点(はんてん)をつける,‘を'まだら(ぶち)にする;( …で)…‘に'しみ(斑点)をつける《+『名』+『with』+『名』》 / 〈人格・名声など〉‘を'汚す,傷つける / (特定の場所に)…‘を'置く,配置する / …‘を'見つける;(…だと)…‘を'見抜く《+『名』+『as』(『for』)+『名』》 / 〈インクなどが〉『しみになる』;〈布などが〉汚れる / 即座になされる,即時払いの(引き渡しの) / 現場での,現地の / (ラジオ・テレビで)番組の間に放送される / ちょうど,ぴったり(exactly)
- 〈U〉〈C〉『赤,』『赤色;』赤い絵の具(染料) / 〈U〉赤い服 / 〈C〉《しばしば『R-』》《話》《時に軽べつして》アカ,共産主義者;過激論(主義)者 / 〈U〉《通例the ~》(会計の)赤字,負債 / 『赤い』,赤色の / (顔・目などが)赤くなった;血に染った / 赤い服を着た;赤毛の / 《しばしば『R-』》《話》《軽べつして》共産主義の;過激な
- 〈C〉『サクランボ』 / 〈C〉『サクラの木』 / 〈U〉サクラ材 / 〈U〉サクラ色 / サクラ色の
- レ(全音階の第2音)
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/02/04 23:49:24」(JST)
[Wiki en表示]
A cherry-red spot is a finding in the macula of the eye in a variety of lipid storage disorders and in central retinal artery occlusion.[1] It describes the appearance of a small circular choroid shape as seen through the fovea centralis. [2] Its appearance is due to a relative transparency of the macula; storage disorders cause the accumulation of storage material within the cell layers of the retina, however, the macula, which is relatively devoid of cellular layers, does not build up this material, and thus allows the eye to see through the macula to the red choroid below. [3]
The sign was first described by Warren Tay, founding member of the British Ophthalmological Society, in 1881, with reference to a patient with Tay-Sachs disease.
The cherry red spot is seen in central retinal artery occlusion, appearing several hours after the blockage of the retinal artery occurs.[4] The cherry red spot is seen because the macula receives its blood supply from the choroid, supplied by the posterior ciliary arteries, while the surrounding retina is pale due to retinal artery infarction.[5] It is also seen in several other conditions, classically Tay-Sachs Disease, but also in Niemann-Pick Disease, Sandhoff disease, and mucolipidosis.
Contents
- 1 Differential diagnosis of cherry-red spot at macula
- 2 See also
- 3 References
- 4 External links
Differential diagnosis of cherry-red spot at macula
- Metabolic Storage Diseases:
- Mucopolysaccharidosis
- Hurler's disease
- Tay-Sachs disease
- MPS VII (Sly syndrome)
- Farber's disease
- GM1 gangliosidoses
- Niemann Pick's disease
- Sandhoff disease
- Shprintzen-Goldberg syndrome
- Lysosomal Storage Diseases
- Congenital Developmental Diseases : Leber's Congenital Amaurosis
- Hereditary/ Familial:
- Hallervorden Spatz disease
- Krabbe disease
- Degenerative: Metachromatic leukodystrophy
- Vascular: Central retinal artery occlusion
- Drugs:
- Quinine toxicity
- Dapsone toxicity
- Poisoning:
- Carbon monoxide
- Methanol
See also
References
- ^ General Practice Notebook
- ^ Medical Dictionary
- ^ Suvarna JC, Hajela SA. Cherry-red spot. J Postgrad Med 2008;54:54-7.
- ^ Rakel, Robert E., Textbook of Family Medicine, 7th ed, Chapter 53
- ^ ""USMLE First AID 2010 page 417
External links
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
English Journal
- Efficacy and Safety of Intra-arterial Thrombolysis in Central Retinal Artery Occlusion.
- Ahn SJ, Kim JM, Hong JH, Woo SJ, Ahn J, Park KH, Han MK, Jung C.SourceDepartment of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea (South), Republic of.
- Investigative ophthalmology & visual science.Invest Ophthalmol Vis Sci.2013 Oct 31. pii: iovs.13-12952v1. doi: 10.1167/iovs.13-12952. [Epub ahead of print]
- Purpose: To investigate the efficacy and safety of intra-arterial thrombolysis (IAT) for acute central retinal artery occlusion (CRAO). Methods: Records from 101 CRAO patients treated with either IAT (n = 57) or standard treatment (ST, n = 44) were retrospectively reviewed. ST consisted of ocular ma
- PMID 24176901
- Ischaemia-reperfusion injury in central retinal artery occlusion.
- Saxena S, Mishra N, Meyer CH, Akduman L.SourceDepartment of Ophthalmology, King George's Medical University, Lucknow, Uttar Pradesh, India.
- BMJ case reports.BMJ Case Rep.2013 Oct 21;2013. pii: bcr2013201415. doi: 10.1136/bcr-2013-201415.
- A 53-year-old man presented with sudden painless diminution of vision in his right eye for 3 days. His fundus examination showed diffuse whitening of the retina with a cherry red spot at the fovea with cilioretinal artery sparing. On fluorescein angiography delayed arteriovenous transit was observed
- PMID 24145508
- Macular Cherry-Red Spot Helps Diagnose Rare Storage Disorder in an Infant with Repeated Respiratory Tract Infections: Case Report.
- Padhi TR, Pattnaik S, Kesarwani S, Das T.SourceRetina and Vitreous Services, L.V. Prasad Eye Institute , Bhubaneswar , India .
- Seminars in ophthalmology.Semin Ophthalmol.2013 Oct 14. [Epub ahead of print]
- Abstract A seven-month-old male child was brought in for an eye test for poor vision and nystagmus noticed from four months of age. The child had delayed milestones of development and multiple (six times) episodes of unexplained lower respiratory tract infection (from two months of age) treated by p
- PMID 24124800
Japanese Journal
- 臨床報告 眼底のcherry-red spotからガラクトシアリドーシスの診断に至った1例
- 臨床報告 下鼻側網膜が虚血から免れた網膜中心動脈閉塞症
Related Links
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- Cherry Red Spot .. 0 Welcome Bonus., Cherry Red Spot 0 Welcome Bonus. Get a Huge FREE Poker Bonus - No deposit needed Cherry Red Spot. Get Free Bonus Now! ... FREE SPIN CASINOS - CLICK HERE! Get a 1000 Free ...
- cherry-red spot n. The choroid appearing as a red spot through the fovea centralis surrounded by a contrasting white edema; it is noted in cases of infantile cerebral sphingolipidosis. The American Heritage® Stedman's Medical ...
Related Pictures
★リンクテーブル★
[★]
- 32歳の女性。右眼の視力低下を主訴に来院した。1年前から両上肢の関節の朝のこわばり、発熱および蝶形紅斑があった。1か月前から症状が増悪してきた。矯正視力は右眼0.8、左眼1.0である。右眼の眼底写真を以下に示す。
- 右眼の眼底にみられるのはどれか。
[正答]
※国試ナビ4※ [103D027]←[国試_103]→[103D029]
[★]
- 1歳1か月の男児。体重増加不良、筋力低下および発達の遅れから先天代謝異常が疑われ精査のため母親に連れられて来院した。寝返りはできず、呼吸器感染症を繰り返している。血清セルロプラスミン値は低値である。
- 身体所見で認められるのはどれか。
[正答]
※国試ナビ4※ [109I063]←[国試_109]→[109I065]
[★]
- 英
- inborn error of metabolism, inborn errors of metabolism
- 同
- 先天性代謝異常症
- 関
- 先天性代謝異常
- 先天代謝異常症、先天性代謝異常、先天性代謝疾患、先天代謝異常、metabolic disease
- 「先天代謝異常症」と「先天性代謝異常症」は同じ意味?
[show details]
代表的な先天性代謝異常症の症状
代表的な先天性代謝異常症の検査所見
参考
- http://www.jc-metabolomics.com/index.html
[★]
- 英
- Tay-Sachs disease
- 同
- テイ-サックス病、(国試)Tay-Sachs病
- βヘキソサミニダーゼA欠損症 β-hexosaminidase A deficiency、家族性黒内障性白痴 amaurotic familial idiocy, AFI
GM2ガングリオシドーシスI型 GM2 gangliosidosis type I
- 関
- リソソーム蓄積症、スフィンゴ脂質蓄積症。サンドホフ病。スフィンゴリピドーシス、ガングリオシド、スフィンゴ脂質
- first aid step1 2006 p.99
概念
- 家族性黒内障白痴のinfantile form。
- 乳児期に発病し、重度の精神運動発達遅延を呈する。
- 視力障害、精神運動発育遅延、筋トーヌス亢進、球麻痺、小脳失調などが進行し、痙攣発作などをきたし、除脳硬直に至って死亡する。
- 黄斑部にチェリーレッドスポットが出現
- βヘキソサミニダーゼαサブユニット遺伝子(15q23-24)の異常によるβヘキソサミニダーゼAの欠損症
病因
病型
- 乳児型GM2-ガングリオシドーシス(古典的テイ-サックス病)、家族性黒内障性白痴
- 若年型GM2-ガングリオシドーシス
- 慢性・成人型GM2-ガングリオシドーシス
臨床病型 (PED.311)
|
乳児型
|
若年型
|
慢性・成人型
|
発症年齢
|
3-5ヶ月
|
2-10歳
|
様々
|
経過
|
2-4歳で死亡
|
15歳頃までに死亡
|
様々
|
中枢神経症状
|
発達遅滞・退行
|
+
|
+
|
-
|
精神症状
|
-
|
-
|
+
|
錐体路症状
|
+
|
+
|
-
|
錐体外路症状
|
-
|
-
|
+
|
失調症状
|
-
|
-
|
+
|
痙攣
|
+
|
+
|
-
|
眼底所見
|
cherry red spot
|
+
|
±
|
-
|
疫学
遺伝形式
病変形成&病理
症状
- 精神遅滞、盲目、muscular weakness、生後3年以内の死亡
- progressive neurodegeneration, developmental delay, cherry-red spot, lysozymes with onion skin
診断
検査
治療
予後
予防
[★]
- 英
- Niemann-Pick disease NPD
- 同
- (国試)Niemann-Pick病、スフィンゴミエリンリピドーシス sphingomyelin lipidosis、スフィンゴミエリン蓄積症 sphingomyelin storage disorder
- 関
- リソソーム蓄積症、スフィンゴ脂質蓄積症
- first aid step1 2006 p.99
概念
- スフィンゴミエリンの蓄積により肝脾腫大、精神遅滞をきたす予後不良のスフィンゴ脂質蓄積症。(A型)
病因
- A型:リソソーム酵素である酸性スフィンゴミエリナーゼの異常 → 著明なASM活性低下
- B型:リソソーム酵素である酸性スフィンゴミエリナーゼの異常
- C型:外因性コレステロールのエステル化障害
遺伝形式
病理
症候
A型
- SPE.660
- 乳児期早期(生後6ヵ月頃)に発症し、3歳頃までに死亡。
- 哺乳困難、著明な肝脾腫、眼底のチェリーレッドスポット、視力障害、精神発達遅滞、進行性の運動失調、錐体路症状(深部腱反射の亢進)
- 肝脾腫により腹部は膨満してくる。痙攣は比較的少ない(⇔C型)
- 眼症状:視力低下
C型
- SPE.660
- 3歳前後に小脳失調で発症
- 垂直眼球運動の失行、精神遅滞、けいれん、肝脾腫
検査
参考
- 1. NIEMANN-PICK DISEASE, TYPE A - OMIM
- http://www.ncbi.nlm.nih.gov/omim/257200
- 2. NIEMANN-PICK DISEASE, TYPE B - OMIM
- http://www.ncbi.nlm.nih.gov/omim/607616
- 3. NIEMANN-PICK DISEASE, TYPE C1 - OMIM
- http://www.ncbi.nlm.nih.gov/omim/257220
[★]
- 英
- cherry-red spot myoclonus syndrome
- 同
- サクランボ赤色斑ミオクローヌス症候群
[★]
cherry-red spotミオクローヌス症候群
[★]
- 関
- dot、local、locoregional、mottle、point、regional、stigma、stigmata
[★]
サクランボ
- 関
- almond、apricot、peach、plum、Prunus、Prunus persica
[★]
- 関
- erythro