Patient Story

  • Orthopedics: Alex

    Orthopedics: Alex

    Eight-year-old Alex is in constant motion. The difference in the length of his legs and wearing a built-up sneaker doesn’t slow him down one bit. His ...

Recommended Monitoring

Renal or kidney anomalies have been described and a renal ultrasound should be done as the diagnosis is being established.

Most of the patients develop farsightedness which requires glasses. Careful ophthalmologic evaluation is indicated at regular intervals.

A vast majority of individuals with MOPDII have had abnormalities in the cerebral vascular system, including moyamoya disease and aneurysms, which can predispose to stroke. Screenings with MRA/CTA of the brain should begin at diagnosis of MOPDII and continue every 12 to 18 months thereafter to permit early detection of these conditions. If diagnosed in the early stages, revascularization and aneurysm treatment can be performed safely and effectively. (3)

Insulin resistance is associated with MOPDII and can often progress to frank diabetes. Yearly screening labs should begin by 5 years of age and include: hemoglobin A1C, insulin levels, fasting blood sugars, liver functions and lipid profiles. The physician should maintain a high degree of suspicion and if any signs or symptoms develop, further testing is indicated. If changes are present, appropriate follow-up and management plans can be implemented. It does appear that these patients respond well to an oral antihyperglycemic medication like metformin. (4)

A yearly CBC should also be obtained as some children, especially post-pubertal girls, have developed anemia. Furthermore, it does appear that baseline platelet counts may be elevated. The clinical significance of this remains to be determined.

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