Neurological involvement in patients with pulmonary alveolar proteinosis related to MARS mutations

Abstract Background. Pulmonary alveolar proteinosis related to MARS mutations is a rare multisystemic disease with an onset in early infancy. Among extra-respiratory features, neurological involvement was progressively discovered in children. We aimed at describing clinical and radiological neurological features in these patients. Results. Delay in walking acquisition was noted in 61.5% and 53.8% of patients had microcephaly and speech delay. Two lesions were recurrent on brain MRI either isolated or in combination: punctiforme white matter hypersignals and periventricular pseudocysts. Conclusions. By reporting particular recurrent lesions on brain MRI, we extend the phenotypic spectrum of pulmonary alveolar proteinosis related to MARS mutations. These new data highlight the importance of neurological follow-up and appropriate management in these patients.