Wolf-Hirschhorn syndrome is a congenital disorder associated with partial deletion of the short arm of chromosome 4. The majority of patients showed characteristic facial anomalies - so called "Greek-Helmet" appearances - mental retardation, growth retardation, and developmental delay. Here we report the case of a 3-year-old girl who was diagnosed as having Wolf-Hirschhorn syndrome immediately at birth with distinct facial anomalies and an abnormal chromosomal karyotype [46,XX,del(4)(p14)]. The patient later presented with status epilepticus and magnetic resonance imaging showed periventricular nodular heterotopia.
Arm ; Child, Preschool ; Chromosomes, Human, Pair 4 ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Female ; Humans ; Intellectual Disability ; Karyotype ; Magnetic Resonance Imaging ; Parturition ; Periventricular Nodular Heterotopia* ; Status Epilepticus* ; Wolf-Hirschhorn Syndrome*

PURPOSE: The effects of gonadotropin-releasing hormone agonist (GnRHa) treatment on body mass index (BMI) are controversial in girls with central precocious puberty (CPP). We therefore evaluated auxological parameters during GnRHa therapy in patients with CPP, specifically focusing on changes in BMI. METHODS: Seventy-seven girls with idiopathic CPP who underwent GnRHa therapy were retrospectively recruited. We investigated BMI changes during the treatment period after stratifying them according to baseline BMI status as follows: normal (BMI percentile of <85th) and overweight groups (BMI percentile of ≥85th). RESULTS: The incidence of overweight/obesity (40.3%/23.4%) was very high in the girls with CPP. In the overall study population, no significant BMI change was observed during the GnRHa treatment period. However, when stratified according to baseline BMI status, the normal-weight group showed a significant increase in BMI-standard deviation score (SDS), whereas the overweight group showed no change in BMI-SDS. Baseline BMI-SDS was an independent predictor of changes in BMI during the GnRHa treatment period. Changes in weight-SDS were similar, but changes in height-SDS were significantly greater in the overweight group than in the normal-weight group, which explains the observed difference in BMI-SDS. CONCLUSION: Our results demonstrate that the difference in the pattern of BMI changes among our CPP patients suggests that delayed puberty induced by GnRHa treatment may have different effects on linear growth according to baseline body composition. This study underscores the importance of individualized lifestyle intervention in CPP children.
Body Composition ; Body Mass Index* ; Child ; Female* ; Gonadotropin-Releasing Hormone* ; Humans ; Incidence ; Life Style ; Obesity ; Overweight* ; Puberty, Delayed ; Puberty, Precocious* ; Retrospective Studies

PURPOSE: Hypertensive disorders of pregnancy increase morbidity and mortality of fetus and neonates. Recently some studies revealed that antihypertensive agents affected the neonatal outcomes. The aim of this study was to investigate the prognosis of preterm infants delivered from the mothers with hypertensive disorders who were treated with antihypertensive agents and magnesium sulfate. METHODS: This retrospective study was conducted on preterm infants who were delivered from normotensive mother (control, n=436) and antihypertensive drugs +/- magnesium sulfate treated mother (study, n=150) between January 2009 and December 2013. Study group were divided into two groups based on whether they received antihypertensive drugs only (n=110) and additional magnesium sulfate (n=40). We compared the characteristics of mothers and neonatal outcomes. RESULTS: Study group had shorter gestational age (32.2+/-3.5 weeks vs. 33.7+/-3.0 weeks, P=0.000) and lower birth weight (1,810.5 +/- 689.2 g, 2,212.1 +/- 604.9 g, P=0.000), and higher rate of small for gestational age infants (22% vs 11%, P=0.000). One minute and 5 minutes Apgar score were lower, but duration of hospital days, oxygen supplement and mechanical ventilation were longer in study group. Respiratory distress syndrome, bronchopulmonary dysplasia, patent ductus arteriosus, retinopathy of prematurity, intraventricular hemorrhage occurred more in study group than control. The group treated with magnesium sulfate together with antihypertensive agent had lower 1 minute and 5 minutes Apgar score than the group taken antihypertensive agent only. CONCLUSIONS: Mothers with hypertensive disorders have increased the risk of preterm delivery, low birth weight, and high neonatal morbidity rate. Therefore it is important to predict and manage possible complication. Moreover, if magnesium sulfate is taken, careful neonatal monitoring is needed because of possible low Apgar score.
Antihypertensive Agents* ; Apgar Score ; Birth Weight ; Bronchopulmonary Dysplasia ; Ductus Arteriosus, Patent ; Fetus ; Gestational Age ; Hemorrhage ; Humans ; Infant ; Infant, Low Birth Weight ; Infant, Newborn ; Infant, Premature* ; Magnesium Sulfate ; Mortality ; Mothers* ; Oxygen ; Pregnancy* ; Prognosis ; Respiration, Artificial ; Retinopathy of Prematurity ; Retrospective Studies