Novel neonatal presentation of megalencephaly‐polymicrogyria‐pigmentary mosaicism syndrome (MPPM) related to  MTOR  mutation: Report of a case | Zendy

Taylor Dustin L. | Zendy; Wildin Robert S. | Zendy; Morley Keith W. | Zendy

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Novel neonatal presentation of megalencephaly‐polymicrogyria‐pigmentary mosaicism syndrome (MPPM) related to MTOR mutation: Report of a case

Author(s) -

Taylor Dustin L.,

Wildin Robert S.,

Morley Keith W.

Publication year - 2020

Publication title -

pediatric dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.542

H-Index - 73

eISSN - 1525-1470

pISSN - 0736-8046

DOI - 10.1111/pde.14480

Subject(s) - megalencephaly , polymicrogyria , pi3k/akt/mtor pathway , medicine , mutation , pathology , genetics , biology , signal transduction , magnetic resonance imaging , gene , radiology

The PI3K/AKT/mTOR signaling pathway is a critical mediator of cell functions. Activating mutations of this pathway are known to disturb normal growth and development, leading to a range of overgrowth and neurologic syndromes. We report a case of megalencephaly‐polymicrogyria‐pigmentary mosaicism syndrome (MPPM) in novel association with MTOR pathogenic variant c.6644C>A (p.Ser2215Tyr) and neonatal evanescent skin findings. This case highlights the importance of a thorough newborn cutaneous examination, as this initial window offers a critical opportunity for potential prognostication and surveillance for neurological sequelae.

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