TY - JOUR
T1 - Carbohydrate-deficient glycoprotein syndrome type 1a
T2 - A variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances
AU - Van Ommen, C. Heleen
AU - Peters, Marjolein
AU - Barth, Peter G.
AU - Vreken, Peter
AU - Wanders, Ron J.A.
AU - Jaeken, Joak
PY - 2000/3
Y1 - 2000/3
N2 - An 8-year-old boy is described with borderline cognitive impairment, cerebellar hypoplasia, a stroke-like episode, and venous thrombosis of the left leg after a period of immobilization. The pattern of multiple abnormalities in blood coagulation suggested carbohydrate-deficient glycoprotein syndrome type 1a. Isoelectric focusing of serum transferrin was abnormal. The activity of phosphomannomutase in leukocytes and fibroblasts was decreased. Mutation analysis of the PMM2 gene revealed the R141H/E151G genotype. These results confirm the presence of carbohydrate-deficient glycoprotein syndrome type 1a without severe psychomotor retardation.
AB - An 8-year-old boy is described with borderline cognitive impairment, cerebellar hypoplasia, a stroke-like episode, and venous thrombosis of the left leg after a period of immobilization. The pattern of multiple abnormalities in blood coagulation suggested carbohydrate-deficient glycoprotein syndrome type 1a. Isoelectric focusing of serum transferrin was abnormal. The activity of phosphomannomutase in leukocytes and fibroblasts was decreased. Mutation analysis of the PMM2 gene revealed the R141H/E151G genotype. These results confirm the presence of carbohydrate-deficient glycoprotein syndrome type 1a without severe psychomotor retardation.
UR - https://www.scopus.com/pages/publications/0033911485
U2 - 10.1067/mpd.2000.103503
DO - 10.1067/mpd.2000.103503
M3 - Article
C2 - 10700701
AN - SCOPUS:0033911485
SN - 0022-3476
VL - 136
SP - 400
EP - 403
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 3
ER -