RESUMO
Children with glycogen storage disease [GSD] suffer from hypoglycemia that is life long and needs frequent feedings and nocturnal intragastric infusions of solutions containing glucose or cornstarch, a regimen that is not possible for most of our followed up patients. The objective of this study was the evaluation of permanent EEG changes in children suffering from liver glycogenoses with attacks of hypoglycemia, hypoglycemic convulsions and those with euglycemia. In a cross-sectional study, 25 children suffering from liver GSD [with no current neurological symptoms] and 20 age and sex matched clinically free children [control group] underwent EEG studies. The results showed that 11 [44%] of the studied children were found to have nocturnal convulsions. Abnormal EEG studies were found in 79 children [76%]. One had a left temporal epileptic focus, 1 had increased slow activity, 7 had abnormal background symmetry and 16 [64%] had absent alpha rhythm in alert state EEG recording. The focal findings did not prove to correlate to hypoglycemia but rather to the level of direct bilirubin above 0.3mg% and total bilirubin above 1mg% [P=0.018%]. Colchicine intake and its prolonged use [>36 months] were associated with abnormal discharge [P=0.004 and respectively P=0.008].The absence of alpha rhythm was related to positive consanguinity [P=0.003] and was detected in children with other affected sib [P=0.000]
Conclusion: liver glycogenosis are associated with EEG changes. These changes were found to be attributable to familial, genetic factors and factors affecting the liver capacity to maintain direct bilirubin within a tight normal range of normal population
RESUMO
Thickening of the subintimai zone of the central vein and sublobular venules leads to decreased venous outflow, increased resistance and severe hemodynamic changes characteristic of veno-occlusive disease [VOD]. The role of the coagulation pathways in the pathophysiology of VOD is an area of controversy. This work aimed at evaluation of the presence of protein C, protein S, antithrombin III deficiency and the presence of factor V Leiden in children having VOD. This cross-sectional study included 20 children suffering from veno-occlusive disease and 20 age and sex matched clinically free infants as a control group. They underwent protein C, protein S, antithrombin III assays. Molecular study of factor V mutation [mutation Q506] detection was carried out. The results proved that protein C deficiency was present in 14 children [70%], and antithrombin III in 2 children [10%]. Protein 8 deficiency was not encountered in our studied group. Two children were heterozygous for the mutation Q506. The 2 children with heterozygous factor V Leiden mutation had protein C deficiency. The percutaneous liver biopsies revealed central vein obstruction in 11 children [55%], extensive fibrosis in one and cirrhosis in one. The biopsy findings did not correlate with the clinical stage [P=0.47] or duration of disease [P=0.49]. None of these changes was encountered in the control group
Conclusion: We report the presence of protein C and antithrombin III deficiency and heterozygous Factor V Leiden [Q506] mutation in children with VOD. We support that thrombophilia is a host susceptibility factor and not the etiology of VOD