GUILLAIN-BARRÉ SYNDROME IN A CHILD WITH ACUTE LYMPHOBLASTIC LEUKEMIA

A 4-year-old boy with acute lymphoblastic leukemia receiving maintenance treatment developed quadriparesis, facial palsy, difficulty in swallowing, and hypertension following a respiratory infection and candida septicemia. Examination of the cerebrospinal fluid was normal initially but later showed albuminocytologic dissociation, the characteristic finding of Guillain-Barré syndrome. Complete recovery occurred after treatment with intravenous immunoglobulin. Differential diagnosis of Guillain-Barré syndrome from vincristine toxicity in patients with leukemia and possible association with the infections are discussed.     

CHRONIC HEMOLYTIC ANEMIA ASSOCIATED WITH GLUCOSE 6-PHOSPHATE DEHYDROGENASE (GUADALAJARA)1159 C → T (387 ARG → CYS) DEFICIENCY ASSOCIATED WITH GILBERT SYNDROME IN A TURKISH PATIENT

The case of an 8-year-old male child with severe kernicterus sequelae is presented in this paper. The child's hemoglobin value varied between 6.0 and 10.8 g/dL and his reticulocyte count ranged between 3.4 and 46.0% during the steady-state condition and hyperhemolytic crisis, respectively. A chronic hemolytic typeof red cell G6PD deficiency was diagnosed. DNA studies indicate that the mutation was G6PD Guadalajara 1159 C &#77 T (387 Arg &#77 Cys) that is situated at the NADP binding site. Additionally, extra nucleotides of (TA) in the A(TA) n TAA motif of the promoter region of the uridine diphosphate-glucuronosyltransferase gene (UGT-1) were found to be homozygous in the patient. The coexistence of Gilbert syndrome with a chronic type of G6PD deficiency was suggested as a cause of neonatal hyperbilirubinemia leading to kernicterus.     

Polymorphism 677C→T MTHFR Gene in Mexican Mothers of Children With Complex Congenital Heart Disease

Congenital heart defects (CHD) are the third leading cause of death in children <1 year of age in Mexico where there is a high prevalence of the 677C→T polymorphism of the MTHFR gene. This is important because the homozygous 677T/T MTHFR gene and deficiency of folic acid (FA) intake have been associated with CHD. Our objective was to analyze the possible association between the genotype 677T/T of the MTHFR gene and supplementation of FA in Mexican women with the presence of complex CHD in their children. We analyzed genotypes of 31 mothers of children with complex CHD (group I) and 62 mothers of healthy children (group II) and investigated FA supplementation during pregnancy in both study groups. Allele frequencies in group I were 41.9 % for C and 58.1 % for T and 22.6 % for genotype frequencies CC, 38.7 % for CT, and 38.7 % for TT. Allele frequencies in group II were 63.7 % for C and 36.3 % for T and 38.7 % for genotype frequencies CC, 50 % for CT and 11.3 % for TT. Both populations are in Hardy–Weinberg equilibrium. Odds ratio for having a child with a complex CHD was 5.9, p = 0.008 (95 % CI 1.67; 20.63) for the TT genotype. FA supplementation at any time during pregnancy was 90.3 and 87.9 % in groups II and I respectively (p > 0.05). Association was found between the maternal genotype (677/TT MTHFR) with the presence of complex CHD in their offspring. No differences in FA supplementation during any stage were found between groups.     

Hematologic Phenotype of the Mutations Ivs1-n6 (T →. C), lVS1-n110 (C → A), AND CD39 (C → T) IN CARRIERS OF P-THALASSEMIA IN GREECE

The hematologic phenotype was characterized in heterozygotes for three of the most common β-thalassemia mutations in the Greek population. The study included 17 carriers of β^{+ +} IVSl-n6 (T → C), 21 carriers of β⁺ IVS1-nl10 (G → A), and 17 carriers of β^± CD39 (C → T). The 55 β-thalassemia heterozygotes were selected from among parents of patients on regular transfusion regimns, and the β-thalassemia mutation was identified by means of the polymerase chain reaction to amplify the appropriate regzon of the β-globin gene and then by allele-specific oligonucleotide hybridization. The assessment of hematologic phenotype included complete blood count and quantitation of hemoglobin HbA₂ and HbF and of the globin chain biosynthesis ratio. Comparison and statistical analysis of the hematologic parameters for the three mutations demonstrated no consistent correlation among the three mutations relative to Hb levels, hematocrit, and red cell indices, although heterozygotes for the IVS1-n6 mutation produce red blood cells with slightly higher mean corpuscular volume; significantly lower values of HbA₂ (mean, 3.81% ± 0.62% with four values less than 3.60%) in IVS1-n6 heterozygotes compared with IVS1-n110 heterozygotes (mean, 4.69% ± 0.48%) and CD39 heterozygotes (mean, 4.75% ± 0.50%, P < 0.001); and signafcantly higher HbF levels in CD39 heterozygotes (mean, 2.31% ± 1.52%) compared with IVS1-n6 heterozygotes (mean, 0.79% ± 0.45%, P < 0.01) and IVS1-n110 heterozygotes (mean, 1.17% ± 0.75%, P < 0.01). With respect to the HbA₂ levels, the findings are in agreement with previous studies in Mediterranean populations; the slightly higher levels of HbF in CD39 heterozygotes appear to be reported for the first time.