Granulomatous liver involvement in a child with systemic lupus erythematosus: a case report and review of the literature.

Systemic lupus erythematosus (SLE) is uncommon in young children and unusual in infancy. Although a variety of liver pathologies have been reported in SLE, presentation of this disease with granulomatous liver involvement is very rare. In this article, for the first time, we report an infant girl presenting with unexplained hepatosplenomegaly and non-necrotizing granulomatous liver involvement at the age of six months who later developed pancytopenia and proteinuria and was finally diagnosed with SLE at the age of three years. Therefore, we suggest that SLE could be considered as one of the possible differential diagnoses when infants or children present with unexplained granulomatous liver involvement.

The effect of renal transplantation on ventricular repolarization in children with chronic renal failure.

BACKGROUND: Chronic renal failure and hemodialysis affect many ECG parameters which can affect cardiac repolarization. OBJECTIVE: To investigate the change in ventricular repolarization before and after kidney transplantation in children. METHODS: A total of 45 children with end-stage renal disease, 45 children at least 6 months after successful renal transplantation, and 45 normal age-matched subjects were enrolled into this study. A 12-lead ECG was recorded in the 3 groups. QT dispersion, QTc dispersion, and T peak to T end (TPE) dispersion were measured. RESULTS: In the patients before and after renal transplantation and the normal children, respectively, the mean±SD QT dispersion was 0.083±0.033, 0.056±0.029, and 0.033±0.016 (p<0.01); the mean±SD QTc dispersion was 0.104±0.038, 0.066±0.033, and 0.039±0.020 (p<0.01); the mean±SD TPE interval dispersion was 0.060±0.021, 0.045±0.021, and 0.034±0.019 (p<0.01). There was a significant correlation between left intra-ventricular diastolic diameter and QT dispersion, QTc dispersion, and TPE dispersion. The systolic velocity of the mitral valve also correlated with TPE dispersion (r=0.44, p=0.01). CONCLUSION: In children with chronic renal failure, indices of ventricular repolarization improve after transplantation, though they still remain longer than the normal values.

Dental abnormalities in Schimke immuno-osseous dysplasia.

Described for the first time in 1971, Schimke immuno-osseous dysplasia (SIOD) is an autosomal-recessive multisystem disorder that is caused by bi-allelic mutations of SMARCAL1, which encodes a DNA annealing helicase. To define better the dental anomalies of SIOD, we reviewed the records from SIOD patients with identified bi-allelic SMARCAL1 mutations, and we found that 66.0% had microdontia, hypodontia, or malformed deciduous and permanent molars. Immunohistochemical analyses showed expression of SMARCAL1 in all developing teeth, raising the possibility that the malformations are cell-autonomous consequences of SMARCAL1 deficiency. We also found that stimulation of cultured skin fibroblasts from SIOD patients with the tooth morphogens WNT3A, BMP4, and TGFß1 identified altered transcriptional responses, raising the hypothesis that the dental malformations arise in part from altered responses to developmental morphogens. To the best of our knowledge, this is the first systematic study of the dental anomalies associated with SIOD.

Evaluation of growth and body mass index in children following kidney transplantation.

Growth retardation is common among children with chronic kidney disease (CKD). Renal transplantation has beneficial effects on height and weight gain of children, but height gain occurs especially for those children who are transplanted at a younger age. This study was conducted for a cross-sectional evaluation of growth and body mass index (BMI) in children following kidney transplantation. All children who had been transplanted in our center and had regular follow-up were entered in this study. Those with primary non-functioning grafts were excluded from the study. Weight and height at transplantation and at 20 years of age or at a pre-determined period (1-4-2008 to 30-6-2008) were recorded. Their height, weight, BMI, standard deviation score (SDS) of height and weight at their pre- and post-transplantation period were compared. SPSS 15.1 software and paired t-test were used for comparison of means. Seventy-one children, 43 boys and 28 girls, were involved in this study. The mean age at transplantation was 12.6 ± 3.45 years, ranging from 3 to 19 years, and age at last visit was 16.9 ± 3.15 years. They had been followed-up for 7-175 months (mean, 51.6 ± 30.75 months). Their primary renal diseases were as follows: reflux, obstruction and dysplasia 29 (41%), hereditary 25 (35%), glomerular disease 14 (20%), unknown 3 (4%). Source of donor was living related in 27 (38%), with 15 being mothers, deceased in 35 (49%) and living unrelated in 9 (13%). SDS height improved dramatically in post-transplantation evaluation, but this did not happen for SDS weight and BMI. We can conclude that despite a dramatic effect of transplantation on growth, catch-up growth only occurred in a minority of the children.