Barber Say Syndrome (A New Case Report).

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and macrostomia. A literature review showed less than 20 previously reported cases of Barber Say syndrome. This presentation reports a one day old female with syndrome face, low hairline, coarse face, macrostomia, thin upper lip, bilateral ectropion and hypertelorism, hypertrichosis, senile skin appearance, hypoplastic nipples and one area of mild skin atrophy. These findings are consistent with BSS.

Transcranial Doppler Screening in 50 Patients With Sickle Cell Hemoglobinopathies in Iran.

BACKGROUND: As previous studies had discordant results with regard to the correlation of transcranial Doppler (TCD) screening and brain MRI, the aim of this study was to find the correlation between TCD values and silent ischemia in sickle cell disease (SCD) patients. METHOD AND MATERIALS: In this cross-sectional study, 50 patients with proven diagnosis of sickle cell hemoglobinopathies based on their hemoglobin electrophoresis were included. Demographic data, their physical exam, information with regard to crises history, and their laboratory data were recorded. Brain MRI and TCD were requested for all patients. RESULTS: The mean age of the patients was 10.2±5.8 years. Only 3 patients (6%) showed evidence of ischemia on brain MRI. Normal and ischemic patients were not significantly different with respect to TCD values, sex, splenomegaly, aplastic crisis, and laboratory test results (P-value >0.05). Only platelet count was significantly higher in the ischemic group compared with that in the normal group (P=0.002). The pain crisis was significantly associated with the mean velocity values of RMCA, LMCA, RV, and LV arteries (P-value <0.05). CONCLUSION: On the basis of our results, there was no significant difference in the mean velocity TCD values between patients with and without evidence of ischemic brain damage in brain MRI. The frequency of silent ischemia was much lower than expected. Further studies with larger sample sizes are needed to elucidate the positive predictive value of abnormal TCD in the prediction of silent ischemia in patients with sickle hemoglobinopathy in certain ethnic groups.