Neonatal Episodic Hypoglycemia: A Finding of Valproic Acid Withdrawal

The treatment of epilepsy during pregnancy is a worldwide problem. Drugs need to be used to control seizures in the mothers. In utero, exposure to valproic acid (VPA) and phenytoin (PH) may cause congenital malformations and also withdrawal symptoms such as irritability, jitteriness and symptoms of hypoglycemia. We present here a newborn with episodic hypoglycemia due to in utero exposure to VPA and PH. The mother was diagnosed as having complex partial epilepsy and was treated with PH (200 mg/day) and VPA (600 mg/day). The offspring developed jitteriness on the second day of life. The infant was hypoglycemic (32 mg/dl). These findings were accepted as withdrawal symptoms, since serum levels of VPA and PH were 37.8 μg/ml (50−100 μg/ml) and 6.37 μg/dl (10−20 μg/ml), respectively. Measurement of blood glucose is important and should be carefully monitored in infants exposed to antiepileptics in utero

Hypothalamo−Pituitary Insufficiency Associated with Ectrodactyly−Ectodermal Dysplasia−Clefting Syndrome

Ectrodactyly−ectodermal dysplasia−clefting (EEC) syndrome is characterized by ectodermal dysplasia, ectrodactyly and facial clefting with multiple congenital anomalies such as urinary tract anomaly, lacrimal duct obstruction, and hearing loss. This syndrome is a rare disease transmitted by autosomal dominant inheritance with variable penetrance. Clinical expression is variable. In EEC syndrome with midline defect hypothalamo−pituitary endocrinopathy is expected, however hormonal disorders in EEC syndrome have rarely been reported. We present two patients with EEC syndrome associated with hypothalamo−pituitary insufficiency

Femoral hypoplasia in two Newborns associated with maternal diabetes Mellitus

Femoral hypoplasia is a rare disorder, with an estimated incidence of 0.11-0.2/10,000 live births. Although the majority of cases are sporadic, a few familial cases have been described. Poor diabetic control, exposure to drugs, viral infections, radiation, focal ischemia and trauma between the 4(th) and 8(th) week of gestation have been implicated as possible etiological factors. Femoral hypoplasia with other congenital anomalies was described in children of diabetic mothers. The isolated form is uncommon. We present here two newborns with femoral hypoplasia due to maternal diabetes mellitus. One of them has isolated and unilateral left femoral hypoplasia diagnosed after birth; the other has bilateral femoral hypoplasia and bowing diagnosed by ultrasound at 24 weeks' gestation

Thiamine withdrawal can lead to diabetic ketoacidosis in thiamine responsive megaloblastic anemia: Report of two siblings

Thiamine responsive megaloblastic anemia syndrome (TRMA), an autosomal recessive disorder caused by the deficiency of thiamine transporter protein, is the association of diabetes mellitus, anemia and deafness. Pharmacological dose thiamine normalizes hematological abnormalities and their effects on the course of diabetes mellitus. We report on 8 years follow up of two siblings with TRMA. They presented in the prepubertal period with diabetic ketoacidosis due to lack of thiamine supplementation for 2 months. Their insulin requirements fell rapidly and disappeared with thiamine therapy. Hematological parameters normalized within 30 days. The diabetic picture is responsive to thiamine treatment in patients with TRMA. Insulin dependent diabetes may occur throughout the pubertal period. If thiamine supplementation is not sufficient, ketoacidosis may develop in patients during the prepubertal period

The relationship between birth weight leptin and bone mineral status in newborn infants

Background: The positive relationship between fat mass, bone mass and leptin has been shown in fetal mouse cartilage/bone. It has been shown that umbilical venous leptin predicts both the size of the neonatal skeleton and its estimated volumetric mineral density. Aims: This study investigates how birth weight and bone mineralization correlate with leptin levels. In addition, we aimed to determine the predictive value of anthropometrics measurements and gender on variability in bone mineral status. Methods: Umbilical cord venous blood samples were obtained at the delivery from 100 term newborn infants. Forty of the newborn infants had birth weights appropriate for gestational age (AGA), 30 were small for gestational age (SGA) and 30 were large for gestational age (LGA). Data were acquired using the whole body dual energy X-ray obsorptiometry scanner in the first 24 h after birth. Results: Leptin concentrations were higher in LGA (36.6 +/- 12.0 ng/ml; p < 0.0001), but lower in SGA (11.7 +/- 5.6 ng/ml; p < 0.001) than in AGA infants (20.3 +/- 7.6 ng/ml). Whole body bone mineral density and whole body bone mineral content were higher in LGA babies (0.442 +/- 0.025 g/cm(2), 71.6 +/- 9.0 g, p < 0.01, p < 0.001, respectively) but lower in SGA (0.381 +/- 0.027 g/cm(2), 29.1 +/- 9.1 g, p < 0.001, p < 0.001, respectively) than in AGA babies (0.426 +/- 0.022 g/cm(2), 53.7 +/- 9.6 g, respectively). The percentage of whole body bone mineral content was lower in SGA (1.3 +/- 0.3) than in AGA (1.6 +/- 0.2, p < 0.001) and LGA (1.7 +/- 0.2, p < 0.001). In stepwise linear regression analyses models; leptin is not found related to the bone indices. Conclusion: Our study does not provide support for the hypothesis that leptin may play a major role in the regulation of bone metabolism in the developing skeleton. Copyright (c) 2007 S. Karger AG, Basel

The relationship among intrauterine growth, insulinlike growth factor I (IGF-I), IGF-binding protein-3, and bone mineral status in newborn infants

Insulinlike growth factors (IGFs) exert profound effects on somatic growth and cellular proliferation of many tissues and play an essential role in bone metabolism. The aim of this study was to investigate how fetal growth and bone mineralization correlate with IGF-I and IGF-binding protein-3 (IGFBP-3) levels of newborn infants and their mothers. In addition, we aimed to determine the predictive value of anthropometric measurements on variability in bone mineral status. Umbilical cord venous blood samples were obtained at delivery from 100 term newborn infants. Forty of the newborn infants had birthweights appropriate for gestational age (AGA), 30 were small for gestational age (SGA), and 30 were large for gestational age (LGA). Data were acquired using whole-body dual-energy X-ray absorptiometry scanner with a pediatric platform. Umbilical cord serum IGF-I concentrations were higher in LGA newborns (p < 0.01), but lower in SGA newborns (p < 0.01) than in AGA newborns. Umbilical cord serum IGFBP-3 concentrations in LGA newborns were significantly greater than in SGA and AGA newborns (p < 0.01 and p < 0.01, respectively). Whole-body bone mineral density (WB BMD) was higher in LGA babies (0.442 +/- 0.025 g/cm(2) [SD]; p < 0.01) but lower in SGA (0.381 +/- 0.027 g/cm(2); p < 0.0001) than in AGA babies (0.426 +/- 0.022 g/cm(2)). WB BMD and content (WB BMC) were correlated significantly with birthweight, birth height, head circumference, body mass index (BMI) of the infants; ponderal index and triceps skinfold thickness (reflecting fat stores) of the infants; cord serum IGF-I concentration, serum IGF-I concentration of the mothers; and fat mass, proportionate fat mass, weight, and BMI of the mothers. In contrast, WB BMC was also correlated positively with cord serum IGFBP-3 concentration and gestational age, and WB BMD was positively correlated with serum IGFBP-3 levels of the mothers. Umbilical cord serum IGF-I concentration of the infants was correlated significantly with the concentration of the mothers (r= 0.232; p = 0.020). Umbilical cord serum IGF-I and IGFBP-3 concentrations were correlated significantly with the fat mass, gestational age, birthweight, birth height, head circumference, and BMI of the infants. Umbilical cord IGF-I concentration was also correlated with ponderal index and triceps skinfold thickness of the infants, maternal weight, BMI, and proportionate fat mass of the infants. Stepwise multiple regression analyses showed no significant relation between bone indices (WB BMD, WB BMC) and the infant's or mother's variations including serum IGF-I and IGFBP-3 concentrations. Birthweight and gestational age are related to bone indices. However, the present study does not provide support for the hypothesis that serum IGF-I and IGFBP-3 levels of infants and their mothers may play a major role in the regulation of bone metabolism in the developing skeleton