Maart 2012
36
Supplementation of levothyroxin should be reserved for patients with (repeated) elevated TSH and
low free thyroxin measured by equilibrium dialysis.
Stroke-like episodes requires supportive therapy, including hydration by IV and physical therapy
during the recovery phase.
‘
Infantile catastrophic phase’ may sometimes respond to aggressive albumin replacement and
lasix.
Especially before and during surgery, coagulopathy should be acknowledged, enabling infusion of
fresh frozen plasma when necessary. In addition care givers should be taught the signs of deep
venous thrombosis. A prophylaxis with low doses of aspirin can be proposed to PMM2-CDG (CDG
Ia) patients after a first arterial thrombosis (but not in absence of vascular complication)
14
.
Operative correction of strabismus is often performed early in life. While orthopedic surgery may
be required later in life for thorax shortening, scoliosis and kyphosis.
Osteopenia does not appear to be a significant increased risk of factor
9
.
Still sometimes the use of
bisphosphonates for ostopenia can be considered
15
.
6.1
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Jaeken J, Matthijs G, Carchon H, van Schaftingen E. Defects of N-glycans Synthesis. In: Valle
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Sparks SE, Krasnewich DM. PMM2- CDG (CDG-1a). In: Pagon RA, Bird TD, Dolan CR, Stephens
K, editors. GeneReviews [Internet]. Seattle: University of Washington; 1993.
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