Advanced

AJNR - American Journal of Neuroradiology

Published ahead of print on April 15, 2009
doi: 10.3174/ajnr.A1566

This Article Figures Only Full Text Full Text (PDF) All Versions of this Article: ajnr.A1566v1 30/8/1620    most recent Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via CrossRef Google Scholar Articles by Tore, H.G. Articles by Raybaud, C. PubMed PubMed Citation Articles by Tore, H.G. Articles by Raybaud, C.

American Journal of Neuroradiology 30:1620-1622, September 2009
© 2009 American Society of Neuroradiology

Case Report
PEDIATRICS

Syndrome of Megalencephaly, Polydactyly, and Polymicrogyria Lacking Frank Hydrocephalus, with Associated MR Imaging Findings

H.G. Tore^a, A.M. McKinney^b, V.A. Nagar^b, B. Lohman^b, C.L. Truwit^b and C. Raybaud^c

^aFrom the Department of Radiology (H.G.T.), Baskent University Faculty of Medicine, Ankara, Turkey
^bUniversity of Minnesota and Hennepin County Medical Centers (A.M.M., V.A.N., B.L., C.L.T.), Minneapolis, Minn
^cThe Hospital for Sick Children (C.R.), Toronto, Ontario, Canada.

Please address correspondence to Alexander M. McKinney, MD, Department of Radiology, Hennepin County Medical Center, 701 Park Ave, Minneapolis MN, 55415; e-mail: mckinrad{at}umn.edu

SUMMARY: Megalencephaly, polymicrogyria, polydactyly, and hydrocephalus (MPPH) syndrome has been recently recognized and is very rare. Each case reported so far has demonstrated hydrocephalus to varying degrees. We report an infant with MPPH syndrome, but lacking frank hydrocephalus. The additional finding of an abnormally elongated pituitary infundibulum has not been described in this syndrome and, along with the presence of a regressing cystic cavum septum pellucidum, suggests that chronic underlying hydrocephalus may have been present.