Enter your Email address:
Wolters Kluwer Health may email you for journal alerts and information, but is committed
to maintaining your privacy and will not share your personal information without
You currently have no recent searches
da Silva Pereira, Conceição Campanário MD,*; Gattás, Gabriel Scarabôtolo MD†‡; Lucato, Leandro Tavares MD, PhD‡
Abstract: Alexander disease (AxD) is a rare neurodegenerative disorder related to mutations in the glial fibrillary acidic protein gene. We report the case of a child with disease onset at the age of 3 months and a novel mutation in the glial fibrillary acidic protein gene. Peculiar aspects were initially atypical clinical and magnetic resonance imaging (MRI) findings, which became typical during follow-up. The child was born after an uneventful pregnancy, presented initially only as a failure to thrive. The first MRI examination demonstrated obstructive hydrocephalus and cerebral white matter abnormalities (which were more prominent posteriorly). During follow-up, her clinical picture became typical of AxD with macrocephaly and neurodevelopmental delay. Sequential MRI examinations showed frontal white matter involvement, together with exuberant forniceal lesions and areas of contrast enhancement.
© 2013 by Lippincott Williams & Wilkins
Colleague's E-mail is Invalid
Your Name: (optional)
Separate multiple e-mails with a (;).
Thought you might appreciate this item(s) I saw at Journal of Computer Assisted Tomography.
Send a copy to your email
Your message has been successfully sent to your colleague.
Some error has occurred while processing your request. Please try after some time.
An Existing Folder
A New Folder
The item(s) has been successfully added to "".
Login with your LWW Journals username and password.
Username or Email:
Enter and submit the email address you registered with. An email with instructions to reset your password will be sent to that address.
Link to reset your password has been sent to specified email address.
What does "Remember me" mean?
By checking this box, you'll stay logged in until you logout. You'll get easier access to your articles, collections,
media, and all your other content, even if you close your browser or shut down your
To protect your most sensitive data and activities (like changing your password),
we'll ask you to re-enter your password when you access these services.
What if I'm on a computer that I share with others?
If you're using a public computer or you share this computer with others, we recommend
that you uncheck the "Remember me" box.
Save my selection
Alexander disease, leukodystrophy, glial fibrillary acidic protein (GFAP) gene, novel mutation, magnetic resonance imaging, MRI, brain
Search for Similar Articles
You may search for similar articles that contain these same keywords or you may
modify the keyword list to augment your search.