Neuropediatrics 2007; 38(4): 200-203
DOI: 10.1055/s-2007-985908
Short Communication

© Georg Thieme Verlag KG Stuttgart · New York

Megalencephaly and Perisylvian Polymicrogyria with Postaxial Polydactyly and Hydrocephalus (MPPH): Report of a New Case

L. Garavelli 1 , E. Guareschi 1 , S. Errico 1 , A. Simoni 2 , P. Bergonzini 2 , M. Zollino 3 , F. Gurrieri 3 , G. M. Mancini 4 , R. Schot 4 , P. J. Van Der Spek 5 , G. Frigieri 2 , P. Zonari 6 , E. Albertini 1 , E. Della Giustina 7 , S. Amarri 1 , G. Banchini 1 , W. B. Dobyns 8 , G. Neri 3
  • 1Department of Pediatrics and Genetic Unit, S. Maria Nuova Hospital, Reggio Emilia, Italy
  • 2Department of Pediatrics, Carpi Hospital, Carpi, Italy
  • 3Institute of Medical Genetics, Catholic University of Rome, Rome, Italy
  • 4Department of Clinical Genetics, Medical Faculty, Erasmus Medical Center, Rotterdam, The Netherlands
  • 5Department of Bioinformatics, Medical Faculty, Erasmus Medical Center, Rotterdam, The Netherlands
  • 6Department of Neuroscience, Neuroradiology, Carpi Hospital, Carpi, Italy
  • 7Department of Neuropsychiatry, S. Maria Nuova Hospital, Reggio Emilia, Italy
  • 8Departments of Human Genetics, Neurology and Pediatrics, The University of Chicago, Chicago, IL, USA
Further Information

Publication History

received 23.04.2007

accepted 04.07.2007

Publication Date:
04 December 2007 (online)

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).

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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