Fatal neonatal respiratory failure in an infant with congenital hypothyroidism due to haploinsufficiency of the NKX2-1 gene: alteration of pulmonary surfactant homeostasis

URN to cite this document:: urn:nbn:de:bvb:355-epub-361358
DOI to cite this document:: 10.5283/epub.36135

Kleinlein, B. ; Griese, M. ; Liebisch, Gerhard

; Krude, H. ; Lohse, Peter ; Aslanidis, Charalampos ; Schmitz, Gerd

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Date of publication of this fulltext: 04 Sep 2017 08:55

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Abstract

Defects of the NKX2-1 gene, encoding thyroid transcription factor-1, cause brain-thyroid-lung syndrome (MIM 610978), characterised by benign hereditary chorea, congenital hypothyroidism and respiratory disease. The case of a term infant with mild primary congenital hypothyroidism and neonatal persistent respiratory failure with fatal outcome at 10 months of age despite continuous ventilatory ...