Taylor Dustin L, Wildin Robert S, Morley Keith W
Division of Dermatology, University of Vermont Medical Center, Burlington, VT, USA.
Departments of Pathology & Laboratory Medicine and Pediatrics, University of Vermont Health Network, Burlington, VT, USA.
Pediatr Dermatol. 2021 Mar;38(2):536-537. doi: 10.1111/pde.14480. Epub 2020 Dec 16.
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.
PI3K/AKT/mTOR信号通路是细胞功能的关键调节因子。已知该通路的激活突变会干扰正常生长和发育，导致一系列过度生长和神经综合征。我们报告了一例巨脑回-多小脑回-色素性皮肤斑纹综合征（MPPM），该病例与MTOR致病性变异c.6644C>A（p.Ser2215Tyr）以及新生儿短暂性皮肤表现相关。该病例强调了全面新生儿皮肤检查的重要性，因为这一初始窗口为潜在的预后评估和神经后遗症监测提供了关键机会。
