Respiratory failure in NDUFS1-related Leigh syndrome with normal cerebral MRI suggests alternative etiologies (Letter to the Editor)

Leigh syndrome is clinically characterised by a multisystem phenotype in which encephalopathy is the most striking feature. Cerebral MRI shows symmetric T2-hyperintense lesions in the basal ganglia, thalamus, midbrain, brainstem, and cerebellum. The genetic background is heterogeneous with mutations in >75 different genes. Leigh syndrome due to variants in NDUFS1 has been repeatedly reported and is biochemically characterised by complex-I deficiency. Description of new cases is warranted. If the course is fatal, autopsy should be carried out. To broaden the knowledge about Leigh syndrome and carriers of NDUFS1 variants, these patients require comprehensive work-up.