Fetal hemimegalencephaly associated with SENP7 mutation: about a case
DOI:
https://doi.org/10.53903/01212095.203Keywords:
Hemimegalencephaly, Malformations of Cortical Development, Nervous System Malformations, Magnetic resonance imagingAbstract
We present a case of a 26-week fetus diagnosed by in utero magnetic resonance imaging (MRI) with total left hemimegalencephaly, associated with a SENP7 gene variant not previously described in this pathology. Hemimegalencephaly is a rare disease, with only a few published cases diagnosed by in utero MRI, which consists of an hamartomatous growth of the entire cerebral hemisphere affected, due to a neuronal proliferation and migration disorder which leads to severe neurological
alterations. MRI findings of the pathology are described.
Downloads
References
Williams F, Griffiths PD. The diagnosis of hemimegalencephaly using in utero MRI. Clin Radiol. 2014;69(6):e291-7. doi: 10.1016/j.crad.2014.01.026.
Kline-Fath B, Bulas D, Lee W. Fundamental and advanced fetal imaging: Ultrasound and MRI. 2nd. Ed. LWW. 2020.
Mirzaa G, Campbell C, Solovieff N, et al. Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism. JAMA Neurol. 2016;73(7):836-45. doi: https://doi.org/10.1001/jamaneurol.2016.0363
Jaiswal V, Hanif M, Sarfraz Z, Nepal G, Naz S, Mukherjee D, et al. Hemimegalencephaly: A rare congenital malformation of cortical development. Clin Case Rep. 2021;9(12):e05238. doi: https://doi.org/10.1002/ccr3.5238.
Gökçe E, Beyhan M, Ocak Karataş ŞF. Magnetic resonance imaging findings of two cases with west syndrome and hypomelanosis of Ito with hemimegalencephaly: a report of two cases. Egypt J Radiol Nucl Med. 2022;53(136). doi: https://doi.org/10.1186/s43055-022-00809-w
Kakish D, Tominna M, Krishnan A. Hemimegalencephaly: Evolution from an atypical focal early appearance on fetal MRI to more conventional MR findings. Cureus. 2022;14(8):e27976. doi: https://doi.org/10.7759/cureus.27976.
Juárez-Vicente F, Luna-Peláez N, García-Domínguez M. The Sumo protease SENP7 is required for proper neuronal differentiation. Biochim Biophys Acta. 2016;1863(7 Pt A):1490-8. doi: https://doi.org/10.1016/j.bbamcr.2016.03.028.
Wu Z, Huang H, Han Q, Hu Z, Teng XL, Ding R, et al. SENP7 senses oxidative stress to sustain metabolic fitness and antitumor functions of CD8+ T cells. J Clin Invest. 2022;132(7):e155224.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2023 Revista Colombiana de Radiología
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
La Revista Colombiana de Radiología es de acceso abierto y todos sus artículos se encuentran libre y completamente disponibles en línea para todo público sin costo alguno.
Los derechos patrimoniales de autor de los textos y de las imágenes del artículo como han sido transferidos pertenecen a la Asociación Colombiana de Radiología (ACR). Por tanto para su reproducción es necesario solicitar permisos y se debe hacer referencia al artículo de la Revista Colombiana de Radiología en las presentaciones o artículos nuevos donde se incluyan.
