Journal of Child Neurology

 

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0883073808315623v1
23/8/916    most recent
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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

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.


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