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

Division of Child Neurology and Psychiatry, Azienda Ospedaliero-Universitaria di Cagliari

Marta Meloni, MD

Division of Child Neurology and Psychiatry, Azienda Ospedaliero-Universitaria di Cagliari

Carlo Cianchetti, MD

Division of Child Neurology and Psychiatry, Azienda Ospedaliero-Universitaria di Cagliari

Melania Falchi, MD

Division of Child Neurology and Psychiatry, Azienda Ospedaliero-Universitaria di Cagliari

Annalisa Nucaro, PhD

Istituto di Neurogenetica e Neurofarmacologia-CNR, Monserrato Cagliari, Italy

Dario Pruna, MD

Division of Child Neurology and Psychiatry, Azienda Ospedaliero-Universitaria di Cagliari, d.pruna{at}tiscali.it

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.

Key Words: MPPH syndrome • megalencephaly • polymicrogyria • hydrocephalus • syndactyly

This version was published on August 1, 2008

Journal of Child Neurology, Vol. 23, No. 8, 916-918 (2008)
DOI: 10.1177/0883073808315623


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