Familial mutation in Caffey disease with reduced penetrance: A case report.

Caffey disease is a rare condition of early infancy, characterized by soft tissue swelling, bone lesions, and hyperirritability. Its typical radiological finding is periosteal new bone formation. It can be sporadic or inherited in an autosomal dominant manner. There is no specific treatment. In symptomatic cases, non-steroidal anti-inflammatory drugs such as ibuprofen, indomethacin, or naproxen can be used. This is a report of an infant who presented with restlessness, irritability, and swelling over his shins, diagnosed as Caffey disease. Although there was no family history, the genetic analysis revealed heterozygous missense mutation (c.3040C > T) in type-I-collagen-alpha-1-chain gene in the patient in addition to his mother, grandmother, aunt, and cousin. After indomethacin therapy, the complaints of the patient were completely resolved and his bone lesions were significantly improved. This case report is a familial form of Caffey disease from Turkey, with proven heterozygous mutation in the patient and the family members.

Investigation of hemorheological parameters at the diagnosis and follow up of children with iron deficiency anemia and mixed anemia.

OBJECTIVE: We aimed to investigate the effects of iron deficiency anemia (IDA) and vitamin B12 deficiency coexisting with IDA which is called as mixed anemia (MA) on hemorheological parameters, to compare them with each other and healthy controls, and to assess the changes in hemorheological parameters after treatment. MATERIALS AND METHODS: 32 IDA patients (mean age:6.3 ± 5.3 years), 30 MA patients (mean age:7.2 ± 5.4 years), and 31 healthy controls (mean age:7.1 ± 5.2 years) were enrolled. Erythrocyte deformability and aggregation were determined by an ectacytometer, plasma and whole blood viscosities by a cone-plate rotational viscometer. Differences between IDA and MA, and healthy controls were compared. Hemorheological parameters were repeated in the patient groups after treatment and compared with the initial results. RESULTS: In both of the patient groups, erythrocyte deformability, whole blood and plasma viscosities were found to be significantly decreased before treatment, compared with the controls. After treatment these parameters were found to be increased significantly. There were no significant differences in these parameters between the IDA and MA group. Additionally, no statistically significant alteration was found in erythrocyte aggregation measurements of both patient groups. CONCLUSION: This study indicates that IDA and MA have similar effects on hemorheological parameters. When vitamin B12 deficiency accompanies IDA which is called as MA, no further alterations occur in hemorheological parameters. The adequate treatment of these anemias not only corrects the hematological parameters, but also by helping to normalize the hemorheological parameters, may contribute to the regulation of microvascular perfusion.

Investigation of hemorheological parameters at the diagnosis and the follow-up of nutritional vitamin B12 deficient children.

We aimed to investigate the effects of vitamin B12 deficiency on hemorheological parameters, and the changes in these parameters following vitamin B12 treatment. 33 patients (mean-age:7 ± 5.7 years) diagnosed as nutritional vitamin B12 deficiency, and 31 age and sex matched controls (mean-age:7.1 ± 5.2 years) were enrolled. Erythrocyte deformability and aggregation were determined by an ectacytometer, plasma and whole blood viscosities by a cone-plate rotational viscometer. The differences between patients and controls were compared. Hemorheological parameters were repeated in the patient group following vitamin B12 treatment, and the results were compared with the initial results. In vitamin B12 deficiency, erythrocyte deformability and whole blood viscosity were found to be significantly decreased, eythrocyte aggregation was found to be significantly increased compared with the controls. Plasma viscosity was found to be decreased in deficiency but this decrease was not statistically significant. In patient group, erythrocyte deformability, whole blood and plasma viscosities were found to be significantly increased and erythrocyte aggregation was significantly decreased, after treatment. This study indicates that vitamin B12 deficiency has important effects on hemorheological parameters and adequate treatment of deficiency not only corrects the hematological parameters, but also by helping to normalize the hemorheological parameters, may contribute to the regulation of microvascular perfusion.