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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.