Megalencephaly polymicrgyria polydactyly hydrocephalus (MPPH) syndrome

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Megalencephaly polymicrgyria polydactyly hydrocephalus (MPPH) syndrome. PIKR32 gene, AKT3 gene. Fully referenced neurology checklist.

Genetic mutations

  • PIKR32 gene
  • AKT3 gene

Dysmorphic features

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Neurological features

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Skeletal features

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Magnetic resonance imaging (MRI) brain

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References

  1. Garavelli L, Guareschi E, Errico S, et al. Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case. Neuropediatrics 2007; 38:200-203.
  2. 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; 35:353-359.
  3. Mirzaa GM, Rivière JB, Dobyns WB. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. Am J Med Genet C Semin Med Genet 2013; 163C:122-130. 
  4. Rivière JB, Mirzaa GM, O'Roak BJ, et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet 2012; 44:934-940.
  5. Alcantara D, Timms AE, Gripp K, et al. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain 2017; 140:2610-2622.
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