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DOI: 10.1055/s-2007-985908
© Georg Thieme Verlag KG Stuttgart · New York
Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus (MPPH): Report of a New Case
Publication History
received 23.04.2007
accepted 04.07.2007
Publication Date:
04 December 2007 (online)
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Abstract
Megalencephaly (MEG), or enlargement of the brain, can either represent a familial variant with normal cerebral structure, or a rare brain malformation associated with developmental delay and neurological problems. MEG has been split into two subtypes: anatomical and metabolic. The latter features a build-up inside the cells owing to metabolic causes. Anatomical MEG has been detected in many different conditions, including many overgrowth syndromes. In 2004 Mirzaa et al. reported five non-consanguineous patients with a new MCA/MR syndrome characterized by severe congenital MEG with polymicrogyria (PMG), postaxial polydactyly (POLY) and hydrocephalus (HYD). The authors argued that these findings identified a new and distinct malformation syndrome, which they named MPPH. We report on a new case of MPPH, the first to be described after the original series (Mirzaa et al., 2004).
Key words
megalencephaly - perisylvian polymicrogyria - postaxial polydactyly - hydrocephalus - MPPH syndrome
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Correspondence
Dr. L. Garavelli
Struttura Semplice Dipartimentale di Genetica
Clinica Dipartimento Ostetrico-Ginecologico e Pediatrico
Arcispedale S. Maria Nuova
Azienda Ospedaliera
Viale Risorgimento 80
42100 Reggio Emilia
Italy
Phone: +39/0522/29 62 44/29 62 41
Fax: +39/0522/29 62 66
Email: garavelli.livia@asmn.re.it