Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Definition:

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) is rare overgrowth disorder. MCAP [DS:H02153] and MPPH show very similar symptoms; the main symptoms are progressive megalencephaly, polymicrogyria, capillary malformations, syndactyly, and connective tissue dysplasia in the former, and progressive megalencephaly, polymicrogyria, and polydactyly in the latter. Polydactyly in MPPH seems to be a variable feature presenting with varied severity in both upper and lower limbs. MCAP and MPPH have been shown to result from gain-of-function mutations in the mTOR-pathway.

References:

[1]. G Mirzaa, et al. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. Neuropediatrics. 2004 Dec;35(6):353-9. [Content Brief]

[2]. Ghayda M Mirzaa, et al. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am J Med Genet A. 2012 Feb;158A(2):269-91. [Content Brief]

[3]. Ghayda Mirzaa, et al. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet. 2014 May;46(5):510-515. [Content Brief]

[4]. Gozde Akgumus, et al. Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway. J Mol Diagn. 2017 Jul;19(4):487-497. [Content Brief]

[5]. Jean-Baptiste Rivière, et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012 Jun 24;44(8):934-40. [Content Brief]

[6]. Tara G Zamora, et al. Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome. BMJ Case Rep. 2013 Oct 3;2013:bcr2012007826. [Content Brief]

[7]. Yutaka Negishi, et al. A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. BMC Med Genet. 2017 Jan 13;18(1):4. [Content Brief]

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