Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2009 Sep;30(8):1620-2.
doi: 10.3174/ajnr.A1566. Epub 2009 Apr 15.

Syndrome of megalencephaly, polydactyly, and polymicrogyria lacking frank hydrocephalus, with associated MR imaging findings

H G Tore  1 , A M McKinney, V A Nagar, B Lohman, C L Truwit, C Raybaud
Affiliations
Case Reports

Syndrome of megalencephaly, polydactyly, and polymicrogyria lacking frank hydrocephalus, with associated MR imaging findings

H G Tore et al. AJNR Am J Neuroradiol. 2009 Sep.

Abstract

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.

PubMed Disclaimer

Figures

Fig 1.
Fig 1.
A−C, A neonate with macrocephaly and a sixth digit on plain film (arrow, A), who underwent MR imaging demonstrating diffuse polymicrogyria on T2WI (arrows, B and C). A prominent cystic CSP bows the cyst walls laterally (asterisk, C). D, The temporal horns are not overtly dilated on T2WI images (not shown), though the pituitary infundibulum is elongated (arrow), without dilated anterior third ventricular recesses, arguing against frank hydrocephalus (dotted arrows). E, At 8 months of age, the cystic CSP becomes much smaller (asterisk), but with enlarged subarachnoid spaces over the cerebral convexities. The arrows denote polymicrogyria in the midst of progressing myelination. F, The infundibulum is even more difficult to visualize, whereas the brain stem appears slightly small.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Mirzaa G, Dodge NN, Glass I, et al. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. Neuropediatrics 2004; 35: 353– 59 - PubMed
    1. Pisano T, Meloni M, Cianchetti C, et al. Megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome: a new case with syndactyly. J Child Neurol 2008; 23: 916– 18 - PubMed
    1. Tohyama J, Akasaka N, Saito N, et al. Megalencephaly and polymicrogyria with polydactyly syndrome. Pediatr Neurol 2007; 37: 148– 51 - PubMed
    1. Garavelli L, Guareschi E, Errico S, et al. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a case. Neuropediatrics 2007; 38: 200– 03 - PubMed
    1. Colombani M, Chouchane M, Pitelet G, et al. A new case of megalencephaly and perisylvian polymicrogyria with post-axial polydactyly and hydrocephalus: MPPH syndrome. Eur J Med Genet 2006; 49: 466– 71 - PubMed

Publication types