Brain-lung-thyroid syndrome

Definition:

Choreoathetosis, hypothyroidism, and neonatal respiratory distress is a syndrome of congenital hypothyroidism associated with pulmonary problems, mental retardation, muscular hypotonia and persistent ataxia which could be described as choreoathetosis. This disorder is attributed to mutations of the NKX2.1, a homeodomain transcription factor expressed in the developing thyroid, respiratory epithelium, and specific areas of the forebrain during embryogenesis.

References:

[1]. Alfonso Massimiliano Ferrara, et al. A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. Thyroid. 2008 Sep;18(9):1005-9. [Content Brief]

[2]. Annette Grüters, et al. Neonatal thyroid disorders. Horm Res. 2003;59 Suppl 1:24-9. [Content Brief]

[3]. Daniel A Doyle, et al. Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1. J Pediatr. 2004 Aug;145(2):190-3. [Content Brief]

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