Alpers-Huttenlocher syndrome

Alpers-Huttenlocher症候群

WordNet

1. a pattern of symptoms indicative of some disease
2. a complex of concurrent things; "every word has a syndrome of meanings"

PrepTutorEJDIC

1. (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

UpToDate Contents

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• 1. 小児における痙攣およびてんかん症候群の治療の概要 overview of the treatment of seizures and epileptic syndromes in children
• 2. 小児における急性肝不全：病因および評価 acute liver failure in children etiology and evaluation
• 3. バルプロ酸中毒 valproic acid poisoning
• 4. 新生児胆汁うっ滞の原因 causes of neonatal cholestasis
• 5. 成人における小脳性運動失調の概要 overview of cerebellar ataxia in adults

English Journal

• Explosive onset non-epileptic jerks and profound hypotonia in an infant with Alpers-Huttenlocher syndrome.

• Allen NM1, Winter T2, Shahwan A2, King MD2.
• Seizure : the journal of the British Epilepsy Association.Seizure.2014 Mar;23(3):237-9. doi: 10.1016/j.seizure.2013.07.005. Epub 2013 Jul 27.
• PMID 23899957

• Adverse drug reactions induced by valproic acid.

• Nanau RM1, Neuman MG.Author information 1Department of Pharmacology and Toxicology, Faculty of Medicine, University of Toronto, In Vitro Drug Safety and Biotechnology, Toronto, Ontario, Canada.AbstractValproic acid is a widely-used first-generation antiepileptic drug, prescribed predominantly in epilepsy and psychiatric disorders. VPA has good efficacy and pharmacoeconomic profiles, as well as a relatively favorable safety profile. However, adverse drug reactions have been reported in relation with valproic acid use, either as monotherapy or polytherapy with other antiepileptic drugs or antipsychotic drugs. This systematic review discusses valproic acid adverse drug reactions, in terms of hepatotoxicity, mitochondrial toxicity, hyperammonemic encephalopathy, hypersensitivity syndrome reactions, neurological toxicity, metabolic and endocrine adverse events, and teratogenicity.
• Clinical biochemistry.Clin Biochem.2013 Oct;46(15):1323-38. doi: 10.1016/j.clinbiochem.2013.06.012. Epub 2013 Jun 20.
• Valproic acid is a widely-used first-generation antiepileptic drug, prescribed predominantly in epilepsy and psychiatric disorders. VPA has good efficacy and pharmacoeconomic profiles, as well as a relatively favorable safety profile. However, adverse drug reactions have been reported in relation wi
• PMID 23792104

• A new familial infantile form of diffuse brain-sclerosis.

• Compston A.
• Brain : a journal of neurology.Brain.2013 Sep;136(Pt 9):2649-51.
• PMID 24137751

Japanese Journal

• Valproate hepatotoxicity in a 5-year-old boy with cerebral palsy due to neonatal asphyxia

• KAKINUMA HIROAKI,FUJIKI TAKUMA,NAKAMURA TSUNEYUKI,TAKAHASHI HIROAKI
• Pediatrics international : official journal of the Japan Pediatric Society 48(6), 631-633, 2006-12-01
• NAID 10019261220

• Evidence that Alpers-Huttenlocher syndrome could be a mitochondrial disease

• RASMUSSEN M
• J. Child Neurol. 15, 473-477, 2000
• NAID 30036046901

Related Links

• Alpers-Huttenlocher syndrome - WrongDiagnosis.com

29 Apr 2011 ... Alpers-Huttenlocher syndrome symptoms, causes, diagnosis, and treatment information for Alpers-Huttenlocher syndrome (Alpers Syndrome) with alternative diagnoses, full-text book chapters, misdiagnosis, ...

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★リンクテーブル★

リンク元	「アルパース病」「Alpers-Huttenlocher症候群」「alpers-Huttenlocher syndrome」
関連記事	「syndrome」

「アルパース病」

　　[★]

英

Alpers' disease, Alpers disease, progressive cerebral poliodystrophy

ラ

polio dystrophia cerebri progressiva infantilis

同

アルパース進行性大脳皮質萎縮症、乳児進行性脳灰白質ジストロフィー、Alpers病 アルパーズ病、Alpers-Huttenlocher症候群 Alpers-Huttenlocher syndrome Alpers's Huttenlocher syndrome

概念

• 乳児期より原因不明の痙攣発作、運動機能や精神機能の退行を来す退行性疾患。
• 初めは筋緊張低下から次第に進行する筋緊張亢進を呈する
• 小児期に死亡する。
• 病院は明らかではない。

病因

• POLG遺伝子の変異 (1)

遺伝形式

• 常染色体劣性遺伝

症状

• 神経症状：精神運動発達遅滞(知能障害)、退行、ミオクローヌス、痙攣発作、痙性麻痺、視力低下、難聴
• 肝障害

予後

• 発症後3-4年以内に死亡

参考

• 1. wikipedia - en

http://en.wikipedia.org/wiki/Alpers%27_disease

• 2. wrongdiagnosis.com

http://www.wrongdiagnosis.com/a/alpers_syndrome

「Alpers-Huttenlocher症候群」

　　[★]

英

Alpers-Huttenlocher syndrome

関

アルパース病

「alpers-Huttenlocher syndrome」

　　[★] Alpers-Huttenlocher syndrome

「syndrome」

　　[★]

• n.

• 症候群