| CASE REPORT
|Year : 2019 | Volume
| Issue : 3 | Page : 169-172
Chiari Malformation Type I in a patient with a novel NKX2-1 mutation
Daniel Goncalves1, Lara Lourenço1, Micaela Guardiano1, Cintia Castro-Correia1, Mafalda Sampaio1, Miguel Leão2
1 Serviço de Pediatria do, Centro Hospitalar de São João, Porto, Portugal
2 Serviço de Genética do, Centro Hospitalar de São João, Porto, Portugal
Chiari Malformation Type 1 is a congenital, condition characterized by abnormally shaped cerebellar tonsils that are displaced below the level of the foramen magnum. NKX2-1 gene encodes a transcription factor expressed during early development of thyroid, lung, and forebrain, and germline NKX2-1 mutations can lead to dysfunction in any of these three organs, resulting in brain–lung–thyroid syndrome. There have been few reports of structural brain anomalies in patients with an NKX2-1-related disorder. We report the first case of a girl with a genetically identified mutation in NKX2-1 that presents with a Chiari Malformation Type 1, eventually expanding the phenotypic spectrum of NKX2-1-related disorders while also highlighting a novel heterozygous pathogenic variant at exon 3 that disrupts the reading framework, originating an NKX2-1 protein with a different C-terminal.
Dr. Daniel Goncalves
Unidade de Neurodesenvolvimento do, Serviço de Pediatria do, Centro Hospitalar São João, Alameda Prof. Hernâni Monteiro, 4200–319 Porto.
Source of Support: None, Conflict of Interest: None
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