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.

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.

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.