Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.
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).
Department of Pediatrics and Genetic Unit, S. Maria Nuova Hospital, Reggio Emilia, Italy. garavelli.livia@asmn.re.it
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Garavelli
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Guareschi
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Errico
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Simoni
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Bergonzini
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Zollino
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Gurrieri
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Mancini
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Schot
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Van Der Spek
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Frigieri
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Zonari
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Albertini
E Della
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Giustina
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Amarri
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Banchini
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Dobyns
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Neri
D001921:Brain / Q000002:abnormalities*; D002658:Developmental Disabilities / Q000150:complications*; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000150:complications* / Q000473:pathology; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D054220:Malformations of Cortical Development / Q000150:complications* / Q000473:pathology; D017689:Polydactyly / Q000150:complications* / Q000473:pathology; D014057:Tomography, X-Ray Computed / Q000379:methods