Megalencephaly polymicrgyria polydactyly hydrocephalus (MPPH) syndrome

Evidence-based neurology checklist on megalencephaly polymicrgyria polydactyly hydrocephalus (mpph) syndrome: Genetic mutations PIKR32 gene AKT3 gene Dysmorphic features Neurological features Skeletal features Magnetic resonance imaging (MRI) brain

Genetic mutations

  • PIKR32 gene
  • AKT3 gene

Dysmorphic features

Neurological features

Skeletal features

Magnetic resonance imaging (MRI) brain

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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