Can neurodevelopmental disorders be part of brain-lung-thyroid syndrome? A case report.

Abstract

Mutations in the NKX2-1 gene cause a syndromic disorder affecting the brain, thyroid, and lungs. There are few case reports in the literature discussing the association between NKX2-1 gene mutation and neurodevelopmental disorders. In this case report, a 12-year-old girl with an NKX2-1 gene mutation, articulation disorder, and specific learning disorder is presented. This report discusses the potential neurodevelopmental risks associated with NKX2-1 mutations. Future research may further clarify the potential co-occurrence of these conditions, contributing to a more comprehensive understanding of the syndrome's components.