Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome
| Autor: | B.J. Halliday, G. Baynam, L. Ewans, L. Greenhalgh, R.J. Leventer, D.T. Pilz, R. Sachdev, I.E. Scheffer, D.M. Markie, G. McGillivray, S.P. Robertson, S. Mandelstam |
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| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | American Journal of Neuroradiology. |
| ISSN: | 1936-959X 0195-6108 |
| DOI: | 10.3174/ajnr.a7663 |
| Popis: | Zhu-Tokita-Takenouchi-Kim syndrome is a severe multisystem malformation disorder characterized by developmental delay and a diverse array of congenital abnormalities. However, these currently identified phenotypic components provide limited guidance in diagnostic situations, due to both the nonspecificity and variability of these features. Here we report a case series of 7 individuals with a molecular diagnosis of Zhu-Tokita-Takenouchi-Kim syndrome, 5 ascertained by their presentation with the neuronal migration disorder, periventricular nodular heterotopia.Individuals with a molecular diagnosis of Zhu-Tokita-Takenouchi-Kim syndrome were recruited from 2 sources, a high-throughput sequencing study of individuals with periventricular nodular heterotopia or from clinical diagnostic sequencing studies. We analyzed available brain MR images of recruited individuals to characterize periventricular nodular heterotopia distribution and to identify the presence of any additional brain abnormalities.Pathogenic variants inThe recurrent neuroradiologic changes identified here represent an opportunity to guide diagnostic formulation of Zhu-Tokita-Takenouchi-Kim syndrome on the basis of brain MR imaging evaluation. |
| Databáze: | OpenAIRE |
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