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- W3174305521 abstract "Dysplastic megalencephaly (DMEG) is a rare cerebral malformation defined by overgrowth and extensive cortical dysplasia of the cerebral hemispheres, usually due to MTOR signalling pathway gene mutations. A 22 week gestation male fetus was diagnosed with macrocephaly on ultrasound. Subsequent brain MRI demonstrated features of DMEG, including macrocephaly, ventriculomegaly, polymicrogyria, enlarged corpus callosum, enlarged ganglionic eminences and cortical dysplasia. At 35 weeks gestation, the fetus was delivered by caesarean section with a birth weight of 3945 g (>99th percentile). The head circumference was 41cm (>99th percentile) and brain weight 674.5 g (expected 256 ± 70 g). The neonate died at day one of life. Massive parallel sequencing on amniotic fluid identified a mosaic missense variant in the MTOR gene: LRG_734t1:c.6644=/C>Tp.(Ser2215=/Ser2215Phe), confirmed by Sanger sequencing. Neuropathology confirmed the neuroradiology findings. On histology dysmorphic neurones, balloon cells, multifocal nodular neuronal heterotopia and focal leptomeningeal glioneuronal heterotopia were identified. Widespread Sturge-Weber syndrome-like features of cerebral and brainstem leptomeningeal and parenchymal angiomatosis and cortical microcalcification were present. We describe an unusual case of dysplastic megalencephaly with a pathogenic MTOR mutation, cortical microcalcification and additional Sturge-Weber syndrome-like features in the brain. The Sturge-Weber syndrome-like features have not been reported in DMEG, expanding the neuropathology phenotypic expression of this disease. 1.Mirzaa GM, Poduri A. Megalencephaly and hemimegalencephaly: breakthroughs in molecular etiology. Am J Med Genet C Semin Med Genet 2014; 166C: 156–72.2.Jansen LA, Mirzaa GM, Ishak GE, et al. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Brain 2015; 138: 1613–28.3.Mirzaa GM, Campbell CD, Solovieff N, et al. Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism. JAMA Neurol 2016; 73: 836–45." @default.
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- W3174305521 date "2021-07-01" @default.
- W3174305521 modified "2023-10-16" @default.
- W3174305521 title "Fetal dysplastic megalencephaly with angiomatosis and a pathogenic mtor mutation" @default.
- W3174305521 doi "https://doi.org/10.1016/j.pathol.2021.06.040" @default.
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