“Recently, recessive variants in PYROXD1 were associated with congenital myopathy with internalized nuclei and myofibrillar disorganization. The described phenotypes vary from early-onset myopathies to adult-onset limb-girdle muscular dystrophy to connective tissue presentation. We report a case of a child with a compound heterozygosity of PYROXD1 (c.464A>G p.(Asn155Ser) and c.1254+1del). After a regular motor development in the first year of life, at the age of two years old he manifested a mild impairment of pelvic girdle with difficulty in running and climbing stairs. Child clinical features included recurrent respiratory infections and hospitalizations due to pneumonias. Once having excluded primary lung diseases causing recurrent infections, aspiration pneumonias was hypothesized, although in literature dysphagia is reported mostly in cases with greater motor impairment. The clinical assessment showed mild sialorrhea, prolonged meal duration, reduced tongue strength, delayed swallowing reflex and ineffective cough. The Videofluoroscopic Swallow Study confirmed persistent microaspiration in the airways during the meal, especially with solid food. Changing food consistency and training caregivers in ensuring airway clearance with the cough machine and the oral suction dramatically reduced the recurrence of pulmonary infections.
With only few individuals affected by PYROXD1 myopathy reported in literature, the phenotypic spectrum associated with PYROXD1 variants is yet to be fully elucidated.”