RT Journal Article
SR Electronic
T1 Methionyl-tRNA synthetase novel mutation causes pulmonary alveolar proteinosis
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 195
OP 198
DO 10.15537/smj.2019.2.23908
VO 40
IS 2
A1 Mohammed Alzaid
A1 Abdullah Alshamrani
A1 Adel S. Al Harbi
A1 Ayed Alenzi
A1 Sarar Mohamed
YR 2019
UL http://smj.org.sa/content/40/2/195.abstract
AB The methionyl-tRNA synthetase (MARS) mutation is a very rare cause of congenital pulmonary alveolar proteinosis. We report a 6-month-old boy born with symmetrical intrauterine growth retardation presented with unexplained persistent tachypnea and hypoxemia associated with severe failure to thrive, anemia, hypoalbuminemia and hepatomegaly. Detailed pulmonary investigations including computed tomography chest scan, bronchoscopy and bronchoalveolar lavage revealed pulmonary alveolar proteinosis. Whole exome sequencing identified a homozygous novel variant in the MARS gene, c.854T>C p.(Ile285Thr).