Also, promptly treat recurrent respiratory infections with antibiotics. There is no medical therapy available at this time. Recurrent respiratory infections, such as pneumonia and otitis media, are frequent. Depending on the extent of neurologic compromise, aspiration pneumonia also can become a recurrent problem. Congestive heart failure results from chronic valvular insufficiency.
Atlantoaxial instability can develop due to abnormally shaped cervical vertebrae.
If this occurs, patients should be monitored and eventually surgically stabilized to avoid the risk of spinal cord injury. Psychomotor retardation is progressive, and death from cardiopulmonary complications usually occurs by the end of the first decade. Care must be given in educating families about the genetic basis of this disorder, including recurrence risks, identification of carriers, and the availability of prenatal diagnosis for future at-risk pregnancies. Genetic counseling Counsel families of patients with I-cell disease about the recurrence risks of an autosomal recessive disorder. In addition, discuss the availability of prenatal diagnosis for future offspring.