Inclusion-Cell (I-Cell) Disease (Mucolipidosis Type II) Follow-up

Updated: Apr 01, 2021
  • Author: Karl S Roth, MD; Chief Editor: Luis O Rohena, MD, PhD, FAAP, FACMG  more...
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Respiratory infections, such as pneumonia and otitis media, frequently recur in patients with I-cell disease.

Depending on the extent of neurologic compromise, aspiration pneumonia can also become a recurrent problem.

Congestive heart failure results from chronic valvular insufficiency.

Atlantoaxial instability can develop because of 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 patients with cardiopulmonary complications usually die by age 10 years.


Patient Education

Families must be educated about the genetic basis of this disorder, including recurrence risks, identification of carriers, and the availability of prenatal diagnosis for future at-risk pregnancies.