Advanced Search

Journal Navigation

Journal Home

Subscriptions

Archive

Contact Us

Table of Contents

Click here for more information

Click here to sign up for SAGE Journal Email Alerts today!

Sign In to gain access to subscriptions and/or personal tools.
Journal of Child Neurology
This Article
Right arrow Full Text (OnlineFirst PDF)
Right arrow All Versions of this Article:
0883073808315623v1
23/8/916    most recent
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to Saved Citations
Right arrow Download to citation manager
Right arrowRequest Permissions
Right arrow Request Reprints
Right arrow Add to My Marked Citations
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Right arrow Citing Articles via Scopus
Google Scholar
Right arrow Articles by Pisano, T.
Right arrow Articles by Pruna, D.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Pisano, T.
Right arrow Articles by Pruna, D.
Right arrowPubmed/NCBI databases
Medline Plus Health Information
*Facial Injuries and Disorders
*Head and Brain Malformations
*Hydrocephalus
Social Bookmarking
Add to CiteULike   Add to Complore   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Reddit   Add to Technorati   Add to Twitter  
What's this?

Article

Megalencephaly, Polymicrogyria, and Hydrocephalus (MPPH) Syndrome: A New Case With Syndactyly

Tiziana Pisano, MD1, Marta Meloni, MD1, Carlo Cianchetti, MD1, Melania Falchi, MD1, Annalisa Nucaro, PhD2, and Dario Pruna, MD1*

1 the Division of Child Neurology and Psychiatry, Azienda Ospedaliero-Universitaria di Cagliari, Cagliari, Italy
2 Istituto di Neurogenetica e Neurofarmacologia-CNR, Monserrato, Cagliari, Italy

* To whom correspondence should be addressed. E-mail: d.pruna{at}tiscali.it.


  Abstract
Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome is characterized by megalencephaly, perisylvian polymicrogyria, postaxial polydactyly, and hydrocephalus. Seven cases have been reported. This report presents a new sporadic patient with megalencephaly, polymicrogyria, and hydrocephalus syndrome, a girl born to healthy, nonconsanguineous parents at 38 weeks. Macrocephaly (+4 standard deviation) was present at birth. She had syndactyly instead of the postaxial polydactyly reported in the other patients. Neurologic examination showed severe diffuse hypotonia and profound developmental delay. Magnetic resonance imaging revealed enlarged lateral and third ventricles, with cavum septi pellucidi et vergae, bilateral abnormal white matter intensity, and diffuse polymicrogyria, most prominent in both the frontal and perisylvian regions. A visual evoked potential study showed increased latencies, probably caused by white matter abnormalities. At 16 months, she has never had seizures and shows profound psychomotor retardation. Results of metabolic and genetic studies were normal.

First published on May 12, 2008, doi:10.1177/0883073808315623

Journal of Child Neurology 2008;23:916.

A more recent version of this article appeared on August 1, 2008

Add to CiteULike CiteULike   Add to Complore Complore   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati   Add to Twitter Twitter    What's this?


This article has been cited by other articles:


Home page
 Am. J. Neuroradiol.Home page
H.G. Tore, A.M. McKinney, V.A. Nagar, B. Lohman, C.L. Truwit, and C. Raybaud
Syndrome of Megalencephaly, Polydactyly, and Polymicrogyria Lacking Frank Hydrocephalus, with Associated MR Imaging Findings
AJNR Am. J. Neuroradiol., September 1, 2009; 30(8): 1620 - 1622.
[Abstract] [Full Text] [PDF]