Aspiration pneumonia is a significant cause of pulmonary morbidity. It can be an acute or a chronic recurrent syndrome during oral feeding or due to gastro esophageal reflux (GER). Aspiration may occur as a consequence of improper swallowing of liquids, solids, or saliva. chronic, recurrent aspiration can cause severe irreversible lung tissue damage. A 7 weeks old baby presented with recurrent pneumonia that was found to result from aspirations during swallowing as was observed by video-fluoroscopy. MRI and pH monitoring were normal. Since his brother, 12 years old suffered also from recurrent aspirations leading to pneumonectomy, an exom analysis was done and revealed homozygousity for a new mutation in the MYH2 gene in both brothers. The asymptomatic parents and sister were carriers. MYH2 encodes for myosin heavy chain 2 in skeletal muscle fibers and expressed in muscles, involved in swallowing. The brother, at age of 12 years showed joints hyperelasticity, ophthalmoplegia and nystagmus along with orbicularis oculi weakness and mild weakness of the neck flexors, biceps and triceps and quadriceps muscles. A Muscle biopsy showed no presence of myosin heavy chain 2. To our knowledge this is the first report of presentation in infancy of recurrent pneumonia due to aspiration as the only manifestation caused by bulbar dysfunction as a result of mutated MYH2 gene. We suggest MYH2 gene analysis as a part of investigation in early aspiration pneumonia due to dysphagia that cannot be explained otherwise.
