A case of infantile Alexander disease diagnosed by magnetic resonance imaging and genetic analysis

被引：5

作者：

Sakakibara, Takafumi

Takahashi, Yukihiro ^{[1
]}

Fukuda, Kazuyoshi

Inoue, Tomomi

Kurosawa, Tomoko

Nishikubo, Toshiya

Shima, Midori

Taoka, Toshiaki

Aida, Noriko

Tsujino, Seiichi

Kanazawa, Naomi

Yoshioka, Akira

机构：

[1] Nara Med Univ Hosp, Div Neonatal Intens Care, Nara 6358522, Japan

[2] Nara Med Univ, Dept Pediat, Nara, Japan

[3] Nara Med Univ, Dept Radiol, Nara, Japan

[4] Kanagawa Children Med Ctr, Div Radiol, Kanagawa, Japan

来源：

BRAIN & DEVELOPMENT | 2007年 / 29卷 / 08期

关键词：

Alexander disease; infantile type; GFAP; R239H; MRI;

D O I：

10.1016/j.braindev.2007.02.002

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We encountered a male infant with infantile Alexander disease presenting with megalencephaly and hydrocephalus as a neonate and subtle seizures at 3 months of age. At 6 months of age, bulbar paralysis appeared. Brain magnetic resonance imaging (MRI) showed abnormal findings with white matter involvement and a characteristic periventricular rim, satisfying the diagnostic criteria proposed by van der Knaap, except for MRI contrast. R239H mutation of glial fibrillary acidic protein gene was identified, representing a common cause of infantile-type Alexander disease. (c) 2007 Elsevier B.V. All rights reserved.

引用

页码：525 / 528

页数：4

共 9 条

[1] PROGRESSIVE FIBRINOID DEGENERATION OF FIBRILLARY ASTROCYTES ASSOCIATED WITH MENTAL RETARDATION IN A HYDROCEPHALIC INFANT [J].