Can neurodevelopmental disorders be part of brain-lung-thyroid syndrome? A case report.
Selman Yildirim, Cagil Ozyilmaz, Esra Hosoglu et al.
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Case in brief
A 12-year-old girl with an NKX2-1 gene mutation was reported to have an articulation disorder and a specific learning disorder. The report presents these neurodevelopmental diagnoses in the context of brain-lung-thyroid syndrome, a disorder associated with NKX2-1 mutations. The abstract does not describe additional clinical findings, investigations, or how the conditions resolved.
What made this case unusual
The case draws attention to articulation and learning disorders as possible neurodevelopmental features associated with an NKX2-1 mutation.
Diagnostic / clinical pearl
In a patient with an NKX2-1 mutation, consider documenting neurodevelopmental concerns, including speech articulation and specific learning difficulties.
Why it matters
Further research may clarify whether these conditions co-occur as part of the syndrome.