Inclusion-Cell (I-Cell) Disease (Mucolipidosis Type II) Treatment & Management

Updated: Aug 08, 2017
  • Author: Karl S Roth, MD; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Treatment

Medical Care

Available treatment for I-cell disease remains limited.

Bone marrow transplantation has been attempted in a small number of patients. Data are limited; however, lysosomal enzyme levels seemed to normalize after transplant in at least one case. [13] Results from a more recent study suggest that BMT is inadequate for treatment of this disease [14] Although progression of the disease should theoretically cease, preexisting damage is usually irreversible. Seriously consider the risks and benefits of bone marrow transplantation in the medical decision-making process.

Efforts can be made to maximize overall health maintenance.

Because these children have progressive failure to thrive, nutritional supplementation may be beneficial. Promptly treat recurrent respiratory infections with antibiotics.

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Consultations

See the list below:

  • Geneticist
    • For initial evaluation and diagnosis
    • To provide genetic counseling for recurrence risks
    • To provide prenatal testing for future offspring
  • Neurologist/developmental specialist
    • For initial evaluation of developmental delay
    • To recommend physical interventional services, such as physical therapy, occupational therapy, and speech therapy
  • Cardiologist: Baseline and serial evaluations are recommended because patients with I-cell disease eventually develop valvular disease and signs of poor cardiac function.
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Diet

Because these children have progressive failure to thrive, nutritional supplementation may be beneficial.

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