ABSTRACT
A 6-year-old male patient presented with Budd-Chiari syndrome and glycoprotein abnormalities associated with carbohydrate deficient glycoprotein syndrome type I with yet unidentified molecular defect (type Ix). Budd-Chiari syndrome most likely developed after hepatic venous thrombosis caused by coagulation abnormalities resulting from hypoglycosylation and functional impairment of anticoagulant proteins.
Subject(s)
Budd-Chiari Syndrome/etiology , Coagulation Protein Disorders/complications , Coagulation Protein Disorders/etiology , Congenital Disorders of Glycosylation/complications , Blotting, Western , Budd-Chiari Syndrome/surgery , Child , Congenital Disorders of Glycosylation/blood , Congenital Disorders of Glycosylation/classification , Congenital Disorders of Glycosylation/genetics , Consanguinity , Humans , Intellectual Disability/genetics , Male , Mannose-6-Phosphate Isomerase/metabolism , Phosphoglucomutase/metabolism , Phosphotransferases (Phosphomutases)/metabolism , Portasystemic Shunt, Transjugular Intrahepatic , Transferrin/metabolismABSTRACT
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.
Subject(s)
Blood Coagulation Disorders/diagnosis , Cerebellum/abnormalities , Cognition Disorders/diagnosis , Congenital Disorders of Glycosylation/diagnosis , Child , Congenital Disorders of Glycosylation/classification , Congenital Disorders of Glycosylation/genetics , Humans , Male , Phenotype , Phosphoglucomutase/genetics , Phosphotransferases (Phosphomutases)/geneticsABSTRACT
We report the case of a patient with carbohydrate-deficient glycoprotein syndrome type Ib who developed normally until 3 months of age, when she was referred to the hospital for evaluation of hypoglycemia that was found to be related to hyperinsulinism. She also had vomiting episodes, hepatomegaly, and intractable diarrhea, which evoked the diagnosis of carbohydrate-deficient glycoprotein syndrome. Oral mannose treatment at a dose of 0.17 g/kg body weight 6 times/d was followed by a clinical improvement and normalization of blood glucose, aminotransferases, and coagulation factor levels. Hyperinsulinemic hypoglycemia should be considered as a leading sign of carbohydrate-deficient glycoprotein syndrome type Ib, especially when it is associated with enteropathy and abnormal liver tests.