Thyroid function tests in the newborn infants of preeclamptic women

The purpose of this study was to identify possible changes in thyroid functions in newborn infants of preeclamptic women. Fifteen neonates (nine boys and six girls) of preeclamptic women and 17 healthy neonates (nine boys and eight girls) for the control group were included in the study. Serum thyroid-stimulating hormone (TSH), total triiodothyronine (TT3) and total thyroxine (TT4) levels and thyroid gland volumes were determined in both groups. Serum TSH and TT4 levels were not statistically different between the two groups. However, serum TT3 level was 79.22 +/- 40.19 ng/dl in the study group and 40.00 +/- 15.99 ng/dl in control subjects (p<0.01). The mean right, left and total thyroid volumes were 1.3 +/- 1.2 ml, 1.2 +/- 1.1 ml and 2.4 +/- 2.3 ml in the study group and 0.6 +/- 0.2 ml, 0.6 +/- 0.2 ml, and 1.1 +/- 0.4 ml in the control group, respectively (p,0.05). The mean thyroid volume/body weight was 0.9 +/- 0.09 ml/kg in the study group and 0.3 +/- 0.06 ml/kg in the control group (p,0.05). In conclusion, we would like to stress that preeclampsia might be a cause of fetal and neonatal thyroid enlargement and elevated serum TT3 level

Severe muscle–eye–brain disease is associated with a homozygous mutation in the POMGnT1 gene

Muscle–eye–brain (MEB) disease is an autosomal recessive disorder characterized by a broad clinical spectrum including congenital muscular dystrophy, ocular abnormalities, and brain malformation (type-II lissencephaly). Herein, we report on two Turkish siblings with a homozygous mutation in the POMGnT1 gene. A 6-year-old sibling has a severe form of MEB disease, which in some aspects is more suitable with the diagnosis of Walker–Warburg syndrome. However, the same mutation resulted in a less severe form of MEB in the older sibling, who is 14 years old. These two cases suggest that POMGnT1 mutations may cause MEB disease with different phenotypes even in the same family