脳腱黄色腫症
WordNet
- widespread xanthomas (especially on elbows and knees); often associated with a disorder of lipid metabolism (同)xanthoma multiplex, cholesterosis cutis, lipid granulomatosis, lipoid granulomatosis
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/01/09 15:21:40」(JST)
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Cerebrotendineous xanthomatosis |
Classification and external resources |
ICD-10 |
E75.5 |
ICD-9 |
272.7 |
OMIM |
213700 |
DiseasesDB |
29239 |
MeSH |
D019294 |
Cerebrotendineous xanthomatosis or cerebrotendinous xanthomatosis (CTX), also called cerebral cholesterosis,[1] is an autosomal recessive form of xanthomatosis.[2][3] It falls within a group of genetic disorders called the leukodystrophies.
Contents
- 1 Characteristics
- 2 Cause and genetics
- 3 Treatment
- 4 Eponym
- 5 See also
- 6 References
- 7 External links
Characteristics
An inherited disorder associated with the deposition of a form of cholesterol (cholestanol) in the brain and other tissues and with elevated levels of cholesterol in plasma but with normal total cholesterol level; it is characterized by progressive cerebellar ataxia beginning after puberty and by juvenile cataracts, juvenile or infantile onset chronic diarrhea, childhood neurological deficit, and tendineous or tuberous xanthomas.
Cause and genetics
Cerebrotendineous xanthomatosis has an autosomal recessive pattern of inheritance.
CTX is associated with mutations in the CYP27A1 gene, located on chromosome 2q33-qter.[1][4] The disorder is inherited in an autosomal recessive manner.[2] This means the defective gene responsible for the disorder is located on an autosome (chromosome 2 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
Treatment
The standard treatment is chenodeoxycholic acid (CDCA) replacement therapy. Serum cholesterol levels are also followed. If hypercholesterolemia is not controlled with CDCA, an HMG-CoA reductase inhibitor ("statins" such as simvastatin) can also be used. [5]
Eponym
It is also known as "Van Bogaert–Scherer–Epstein syndrome".[6][7]
See also
- Sitosterolemia
- List of cutaneous conditions
References
- ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 213700
- ^ a b Pilo de la Fuente B, Ruiz I, Lopez de Munain A, Jimenez-Escrig A (May 2008). "Cerebrotendinous xanthomatosis: Neuropathological findings". J. Neurol. 255 (6): 839–42. doi:10.1007/s00415-008-0729-6. PMID 18458861.
- ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. p. 535. ISBN 0-7216-2921-0.
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 606530
- ^ http://emedicine.medscape.com/article/1418820-treatment
- ^ synd/1452 at Who Named It?
- ^ L. van Bogaert, H. J. Scherer, E. Epstein. Une forme cérébrale de la cholestérinose généralisée (type particulier de lipidose à cholestérine). Paris, Masson, 1937.
External links
- GeneReviews/NCBI/NIH/UW entry on Cerebrotendinous Xanthomatosis
- CTX Patient Advocate/Support site
(LSD) Inborn error of lipid metabolism: lipid storage disorders (E75, 272.7–272.8)
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Sphingolipidoses
(to ceramide) |
From ganglioside
(gangliosidoses)
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- Ganglioside: GM1 gangliosidoses
- GM2 gangliosidoses (Sandhoff disease
- Tay–Sachs disease
- AB variant)
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From globoside
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- Globotriaosylceramide: Fabry's disease
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From sphingomyelin
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- Sphingomyelin: phospholipid: Niemann–Pick disease (SMPD1-associated
- type C)
Glucocerebroside: Gaucher's disease
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From sulfatide
(sulfatidoses
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- Sulfatide: Metachromatic leukodystrophy
- Multiple sulfatase deficiency
Galactocerebroside: Krabbe disease
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To sphingosine
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NCL |
- Infantile
- Jansky–Bielschowsky disease
- Batten disease
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Other |
- Cerebrotendineous xanthomatosis
- Cholesteryl ester storage disease (Lysosomal acid lipase deficiency/Wolman disease)
- Sea-blue histiocyte syndrome
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Index of inborn errors of metabolism
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Description |
- Metabolism
- Enzymes and pathways: citric acid cycle
- glycolysis
- glycogenesis and glycogenolysis
- fructose and galactose
- pentose phosphate
- glycoproteins
- glycosaminoglycans
- lipid
- phospholipid
- cholesterol and steroid
- lipoprotein
- sphingolipids
- eicosanoids
- amino acid
- urea cycle
- heme and porphyrin
- nucleotide
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Disorders |
- Citric acid cycle and electron transport chain
- Carbohydrate
- Glycoprotein
- Proteoglycan
- Fatty-acid
- Phospholipid
- Cholesterol and steroid
- Lipid
- Lipid storage
- Eicosanoid
- Amino acid
- Purine-pyrimidine
- Heme metabolism
- Symptoms and signs
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Treatment |
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UpToDate Contents
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English Journal
- Cerebrotendinous xanthomatosis presenting with asymmetric parkinsonism: a case with I-123-FP-CIT SPECT imaging.
- Schotsmans K, De Cauwer H, Baets J, Ceyssens S, van den Hauwe L, Deconinck T, Helsen G.SourceDepartment of Neurology, Antwerp University Hospital, University of Antwerp, Wilrijkstraat 10, 2650, Edegem, Belgium.
- Acta neurologica Belgica.Acta Neurol Belg.2012 Sep;112(3):287-9. Epub 2012 Apr 17.
- Cerebrotendinous xanthomatosis (CTX) is a rare inherited neurometabolic disease. Clinical symptoms are caused by increased deposition of cholestanol and cholesterol in various tissues. Progressive neurological symptoms are one of the principal manifestations. We report the case of a 44-year-old man
- PMID 22527785
- A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene.
- Koyama S, Kawanami T, Tanji H, Arawaka S, Wada M, Saito N, Kato T.SourceDepartment of Neurology, Hematology, Metabolism, Endocrinology, and Diabetology, Yamagata University Faculty of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan.
- Clinical neurology and neurosurgery.Clin Neurol Neurosurg.2012 Sep;114(7):1021-3. Epub 2012 Feb 13.
- PMID 22336472
Japanese Journal
- 梅本 勇基,上野 弘貴,原 直之 [他],中村 毅,大槻 俊輔,柳瀬 哲至,山脇 健盛,松本 昌泰
- 日本内科学会雑誌 101(5), 1397-1400, 2012-05-10
- … 脳腱黄色腫症(cerebrotendinous xanthomatosis:CTX)は知能低下,小脳失調,白内障,腱黄色腫を呈する遺伝性代謝疾患である.本例は53歳,女性.四肢に巨大な軟部腫瘤を認め生検により黄色腫と判明.小脳歯状核病変や血清コレスタノール高値からCTXと診断しケノデオキシコール酸(chenodeoxycholic acid:CDCA)とスタチンの投与を開始した.下腿の巨大黄色腫はMRIでT2WI高信号域を認め出血や粘液変性の存在 …
- NAID 10031130551
- Identification of a Novel Missense Mutation in the Sterol 27-Hydroxylase Gene in Two Japanese Patients with Cerebrotendinous Xanthomatosis
- Nozue Tsuyoshi,Higashikata Toshinori,Inazu Akihiro,Kawashiri Masa-aki,Nohara Atsushi,Kobayashi Junji,Koizumi Junji,Yamagishi Masakazu,Mabuchi Hiroshi
- Internal Medicine 49(12), 1127-1131, 2010
- … Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive sterol storage disease caused by a mutated sterol 27-hydroxylase (CYP27A1) gene. …
- NAID 130000251640
Related Links
- Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic ...
- Cerebrotendinous Xanthomatosis. Cerebrotendinous xanthomatosis is a rare genetic metabolic disorder of cholesterol and bile acid metabolism that results in systemic and neurologic abnormalities. ... Peter R Baker II ...
Related Pictures
★リンクテーブル★
[★]
- 英
- cerebrotendinous xanthomatosis, CTX
- 同
- 脳腱コレステリン症 cerebrotendinous cholesterinosis
- 関
- ヴァン・ボゲール・シェラー・エプシュタイン症候群、cholestanolosis
[★]
[★]
黄色腫症
- 関
- xanthoma