RT Journal Article
SR Electronic
T1 Syndrome of Megalencephaly, Polydactyly, and Polymicrogyria Lacking Frank Hydrocephalus, with Associated MR Imaging Findings
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 1620
OP 1622
DO 10.3174/ajnr.A1566
VO 30
IS 8
A1 Tore, H.G.
A1 McKinney, A.M.
A1 Nagar, V.A.
A1 Lohman, B.
A1 Truwit, C.L.
A1 Raybaud, C.
YR 2009
UL http://www.ajnr.org/content/30/8/1620.abstract
AB 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.