Life-threatening pulmonary haemorrhage treated with coil embolisation followed by lobectomy in a patient with KCNT1 mutation.
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DOI: 10.1017/s104795112300447x
Abstract: KCNT1 mutations are associated with childhood epilepsy, developmental delay, and vascular malformations. We report a child with a likely pathogenic KCNT1 mutation (c.1885A>C, p.Lys629Glu) with recurrent pulmonary haemorrhage due to aortopulmonary collaterals successfully managed with… read more here.
Keywords: pulmonary haemorrhage; embolisation followed; kcnt1; kcnt1 mutation ... See more keywords