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Year : 2019  |  Volume : 14  |  Issue : 3  |  Page : 169-172

Chiari Malformation Type I in a patient with a novel NKX2-1 mutation

1 Serviço de Pediatria do, Centro Hospitalar de São João, Porto, Portugal
2 Serviço de Genética do, Centro Hospitalar de São João, Porto, Portugal

Correspondence Address:
Dr. Daniel Goncalves
Unidade de Neurodesenvolvimento do, Serviço de Pediatria do, Centro Hospitalar São João, Alameda Prof. Hernâni Monteiro, 4200–319 Porto.
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jpn.JPN_108_18

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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.


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