Pulmonary vascular malformations in genetic epileptic encephalopathy: a case report and future perspectives

<bold>Background:</bold> We report an unusual complication in KCNT1-related epilepsy: Systemic to Pulmonary Collateral Arteries (SPCA). <bold>Case Presentation:</bold> A few hours after birth, M. started suffering from seizures. Blood and cerebrospinal fluid tests were negative, EEG showed an epileptic pattern. Genetic confirmed a KCNT1-epilepsy, resulting in a severe drug-resistant encephalopathy. Since the first months, M. presented ineffective cough and impaired secretion clearance, with frequent infections. CT scan showed normal lung parenchyma but marked ectasia of bronchial arteries. Only a single paper (Kawasaki et al. Three Cases of KCNT1 Mutations, 2017) associated KCNT1 mutations with SPCA. After a year of stability M. presented an episode of hemoptysis. Arterial embolization was performed (Fig. 1) but CT scan did not show any reduction in SPCA. <fig><object-id>erj;64/suppl_68/PA4094/F1</object-id><object-id>F1</object-id><object-id>F1</object-id><graphic></graphic></fig> Fig. 1: SPCA embolization. Another episode occured with respiratory failure. A multidisciplinary meeting agreed not to perform further embolization. As a result of a third massive hemoptysis, M. died. <bold>Discussion and Conclusion:</bold> SPCA are poorly described in KCNT1-related epilepsy: it is important to know them even if early embolization seems ineffective. SPCA are also complications of end-stage Chronic Pulmonary Disease (CPD); since here they were present without parenchymal involvement, KCNT1 gene could be directly responsible for SPCA also in CPD patients.