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 hydro cephalus (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).

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doi.org/10.1055/s-2007-985908, hdl.handle.net/1765/35760
Neuropediatrics
Erasmus MC: University Medical Center Rotterdam

Garavelli, L, Guareschi, E, Errico, S, Simoni, A, Bergonzini, P, Zollino, M, … Neri, G. (2007). Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): Report of a new case. Neuropediatrics, 38(4), 200–203. doi:10.1055/s-2007-985908