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伊藤色素减退症伴半侧巨脑症。

Hypomelanosis of Ito with hemimegalencephaly.

作者信息

Sharma Suvasini, Sankhyan Naveen, Kabra Madhulika, Kumar Atin

机构信息

Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

出版信息

Dermatol Online J. 2009 Nov 15;15(11):12.

PMID:19951648
Abstract

Hypomelanosis of Ito is a neurocutaneous syndrome characterized by hypopigmented lesions occurring in streaks and whorls located on the trunk, head or extremities. The associated neurological manifestations include mental retardation, seizures, language disabilities and motor system dysfunction. Hemihypertrophy has also been described in this syndrome. We present a 3-month-old male infant with Hypomelanosis of Ito, hemi-hypertrophy and hemi-megalencephaly.

摘要

伊藤色素减退症是一种神经皮肤综合征,其特征为躯干、头部或四肢出现条纹状和涡状色素减退性皮损。相关的神经学表现包括智力发育迟缓、癫痫发作、语言障碍和运动系统功能障碍。该综合征中也有半侧肥大的描述。我们报告一例患有伊藤色素减退症、半侧肥大和半侧巨脑症的3个月大男婴。

相似文献

1
Hypomelanosis of Ito with hemimegalencephaly.伊藤色素减退症伴半侧巨脑症。
Dermatol Online J. 2009 Nov 15;15(11):12.
2
Hemimegalencephaly in a patient with coexisting trisomy 21 and hypomelanosis of Ito.一名患有21三体综合征和伊藤色素减退症的患者出现半侧巨脑症。
J Child Neurol. 2014 Mar;29(3):415-20. doi: 10.1177/0883073812469297. Epub 2012 Dec 23.
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Hemimegalencephaly in a patient with a neurocutaneous syndrome.
Semin Pediatr Neurol. 2008 Dec;15(4):190-3. doi: 10.1016/j.spen.2008.10.010.
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[Hypomelanosis of Ito in a girl with Trisomy 13 mosaicism: a cytogenetic study].[一名患有13三体嵌合体的女孩的伊藤色素减退症:细胞遗传学研究]
Ann Dermatol Venereol. 2003 Nov;130(11):1033-8.
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Hypomelanosis of ito.伊藤色素减退症
Indian J Pediatr. 2004 Oct;71(10):947.
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Sweat testing in hypomelanosis of Ito: divergent results reflecting genetic heterogeneity.伊藤色素减退症的汗液检测:反映遗传异质性的不同结果。
Eur J Dermatol. 2000 Apr-May;10(3):217-9.
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Mega-corpus callosum, polymicrogyria, and psychomotor retardation: confirmation of a syndromic entity.巨胼胝体、多小脑回畸形与精神运动发育迟缓:一种综合征实体的确认
Neuropediatrics. 2008 Apr;39(2):123-7. doi: 10.1055/s-2008-1081218.
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Cognitive deficits and developmental language disorders in patients with malformations of cortical development.皮质发育畸形患者的认知缺陷与发育性语言障碍
Epilepsia. 2010 Feb;51 Suppl 1:70-1. doi: 10.1111/j.1528-1167.2009.02452.x.
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Hypomelanosis of ito with trisomy 13 mosaicism [46, XY, der (13;13) (q10;q10), +13/46,xy].伴有13三体镶嵌现象的伊藤色素减退症[46,XY,der(13;13)(q10;q10),+13/46,xy]
Turk J Pediatr. 2002 Apr-Jun;44(2):152-5.
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Cortical visual impairment in hypomelanosis of Ito.伊藤色素减退症中的皮质视觉障碍。
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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.MTOR 基因突变与发育性脑疾病的关联,包括巨脑症、局灶性皮质发育不良和色素镶嵌症。
JAMA Neurol. 2016 Jul 1;73(7):836-845. doi: 10.1001/jamaneurol.2016.0363.
2
Hypomelanosis of Ito presenting with pediatric orthopedic issues: a case report.伴发小儿骨科问题的伊藤色素减退症:一例报告
J Med Case Rep. 2014 May 19;8:156. doi: 10.1186/1752-1947-8-156.
3
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.
PI3K-AKT3-mTOR 通路组件中的从头发生的体细胞突变导致偏侧巨脑畸形。
Nat Genet. 2012 Jun 24;44(8):941-5. doi: 10.1038/ng.2329.