Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature.

AIM: 6q24-related transient neonatal diabetes mellitus (6q24-TNDM) is a rare imprinting disorder characterized by uncontrolled hyperglycemia during the first 6 months of life. The molecular etiology of 6q24-TNDM is attributable to overexpression of the paternally inherited PLAGL1 and HYMAI genes located on the 6q24 locus. One of these major defects is maternal loss of methylation (LOM) at 6q24. In addition, approximately 50% of TNDM patients that present LOM at 6q24 can also display hypomethylation at additional imprinted loci (multilocus imprinting disturbances, MLID). Interestingly, the majority of these patients carry mutations in the ZFP57 gene, a transcription factor required for the adequate maintenance of methylation during early embryonic development. METHODS: Methylation analysis of 6q24 and additional imprinted loci was carried out by MS-MLPA in a Tunisian male patient with clinical diagnosis of TNMD. For the same patient, mutation analysis of the ZFP57 gene was conducted by direct Sanger sequencing. RESULTS: We report a novel nonsense mutation (c.373C > T; p.R125*; ENST00000376883.1) at the ZFP57 gene causing TNDM-MLID and describe detailed phenotype/epigenotype analysis of TNMD patients carrying ZFP57 mutations. CONCLUSION: We provide additional support to the role of ZFP57 as a genetic determinant cause of MLID in patients with TNMD.

[Perinatal varicella: fetal and neonatal risks and management]. / La varicelle périnatale: risques et prise en charge fœtale et néonatale.

The occurrence of clinical varicella during pregnancy is rare but it may pose maternal and fetal risks. Perinatal maternal varicella may result in potentially severe neonatal varicella, especially when maternal eruptions occur between 5 days before and 2 days after delivery. We report eight cases of newborns of mothers with varicella in the peri-partum period in order to synthesize the current state of knowledge on the risk of contracting virus as well as to develop treatment protocol. We conducted a descriptive study at the Maternity and Neonatology Center, Sousse, over a period of 10 years. Eight newborns were included in the study. Prenatal diagnosis was made in 7 mothers. Only a woman developed varicella 3 days after delivery. Five newborns were symptomatic on admission. All newborns had typical varicella skin lesions, three of them had respiratory distress associated. Treatment was based on newborn isolation, local skin care and Acyclovir therapy. Patients evolution was favorable. The occurrence of varicella infection during pregnancy remains possible in the countries where vaccination is still not accessible to all. The risk of maternal and fetal complications justifies specific and well codified treatment.

Incidence of congenital heart disease in newborns after pulse oximetry screening introduction.

INTRODUCTION: Congenital heart defects are the most common congenital malformations in the newborn with an estimated incidence ranging between 6-9 ‰. In Tunisia, this incidence reaches 1.9 ‰. This can be explained by misdiagnosed cases. In fact, the diagnosis is based mainly on clinical examination which allows making the diagnosis only in 50 in 75 % of the cases. Several studies showed the interest of pulse oximetry oximeter in the screening of cyanogenic and duct dependent congenital heart diseases. The Objective of our work is to determine the incidence of congenital heart diseases screened by physical examination coupled with the measure of transcutaneous saturation Methods:  forward-looking and descriptive Study, concerning all the births of the central maternity of Sousse, during a period of 12 months. We have measured transcutaneous saturation of all the newborn children in association to routine physical, examination. This study aimed to screen congenital heart disease and then calculate their incidence. RESULTS: during the period of the study 10447 newborn children had been born in the central maternity of Sousse. Among whom, 26 had a congenital heart defect. The incidence of the neonatal cardiac malformations in our current study was found in 2.77 ‰ of alive births. It was about 1.1 ‰ of newborns in a similar study practised in 2009 (Chi2=76.2 et p<10-4). The heart disorder was diagnosed following the grip taking of the only percutaneous saturation in 5 newborn children and following the clinical examination in 21. CONCLUSION: the measure of the transcutaneous saturation in the first day of life is a little expensive and specific method for the early screening of the duct dependent cardiac malformations.

Asymptomatic horn rudimentary pregnant uterine rupture with a viable fetus.

BACKGROUND: Rupture of pregnant rudimentary horn in a pseudounicornuate uterus is usually resulting in severe and dramatic haemoperitoneum at the beginning of the second trimester of gestation. Advanced abdominal pregnancy due to horn rudimentary uterine rupture with delivery of a viable fetus is exceptional. AIM: To analyse obstetrical entailments, diagnosis and current concepts of management of advanced abdominal pregnancy secondary to rudimentary horn rupture. CASE: An asymptomatic ruptured rudimentary horn pregnancy in a 31-year-old, second gravida, is reported. She was referred to our maternity for anhidramnios at estimated gestational age of 30 weeks. An advanced abdominal pregnancy was diagnosed with sonographic features suggestive of horn rudimentary uterine rupture. Elective laparotomy was performed and a healthy infant was delivered. Excision of the rudimentary horn was done and an uneventful recovery followed. CONCLUSION: An unusual sonographic appearance of the placenta with anhidramnios must first lead to consider the diagnosis of advanced abdominal pregnancy in time to save the surgeon from an unpleasant and dangerous surprise and to increase the chance of materno-fetal survival.