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Background: Goldenhar syndrome (GS) or oculo-auriculo-vertebral dysplasia is a sporadic rare condition due to a defect in the development of first and second branchial arches. It is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. Antenatal diagnosis is possible by ultrasonography. Its etiology is not fully understood. Objective: To illustrate the variety of clinical features of GS. Materiel and methods: A retrospective descriptive study of the patients diagnosed with GS followed in our Neonatal Resuscitation and Intensive Care Unit over the last 15 years. Results: We have identified four patients with GS during the study period; three males and one female. Antenatal diagnosis was achieved in only one case with indication of medical termination of pregnancy at 26 weeks of gestation. Three patients had various degree of hemifacial microsomia, and one patient presented a left facial paralysis. Two patients had mandibular hypoplasia. Microtia with abnormal implantation of the ears was seen in two cases and the presence of preauricular tags occurred in three cases. One patient had cleft palate. As ocular defects, epibulbar dermoid or dermoid cyst and right anophthalmia in another case were seen. Two patients had vertebral abnormalities: spina bifida aberta with myelo-meningocele in the medullar MRI in one case and dystrophy of dorsal rachis without kyphosis and/or scoliosis in another case. Karyotype, cardiac and renal sonography and brain MRI of the three patients were normal. The morphology ultrasound of the one patient detected a complex cardiopathy motivating medical termination of pregnancy. Conclusion: We illustrate the variation of phenotypic spectrum of Goldenhar syndrome that may make diagnosis difficult. [ABSTRACT FROM AUTHOR]

Background: Bronchiolitis is a common and serious lung infection among children under the age of two. Its treatment is purely symptomatic or better preventive particularly since certain risk factors of severity have been identified. Objective: To describe the epidemiological, clinical and therapeutic features of neonatal bronchiolitis in a Neonatal Resuscitation and Intensive Care Unit. Materiel and methods: A retrospective descriptive study of patients admitted in our Neonatal Resuscitation and Intensive Care Unit over a one-year period (from April 2016 to March 2017). Results: Our study included 46 patients, 22 male and 24 female. 16 patients were born prematurely (34.8%). 7 patients needed mechanical ventilation at birth (15.2%). The median age at admission was 25 days with minimums and maximums of 6 days and 6 months. 22 patients were exposed to passive smoking (47.8%). Viral contamination was noted in 31 cases (67.4%). 7 patients were exclusively breast-fed. Clinically, 43 patients had coryza and congestion (93.5%). Polypnea was found in 42 cases (91.3%), nasal flaring and retractions in 27 cases (58.7%) and difficulty feeding in 28 cases (60.9%). 12 patients had an oxygen saturation less than 92% with cyanosis (26.1%). 4 patients presented apnea (8.7%). 9 patients had fever at admission (19.6%). Respiratory syncytial virus (RSV) was found in seven nasopharyngeal specimens from the 13 performed. Chest X-ray was performed in 43 patients (93.5%). It was normal in 10 cases (21.7%). It showed hyperinflateed lungs in 20 cases, atelectasis in 12 cases and pneumothorax in one case. Secondary bacterial infection occurred in 17 cases (37%). 10 patients needed mechanical ventilation (21.7%) with a median duration of seven days and extremes between two and 14 days. We used inhaled epinephrine in 38 cases (82.6%), aerosolized corticosteroids in 33 cases (71.7%) and aerosolized anticholinergic agent in 29 cases (63%). Nebulized hypertonic saline was used only in two cases (4.3%). 28 patients benefited from chest physiotherapy (60.9%). Favourable evolution was noted in 43 cases (93.5%). The median length of hospital stay was six days with extremes between one and 27 days. Three patients died: two by acute respiratory distress syndrome (ARDS) and one because of Patau syndrome he had. Conclusion: Bronchiolitis represents a growing public health problem despite prevention companions. Newborns are particularly vulnerable to this disease. Authors focus on the risk factors and outcome of neonatal bronchiolitis. Despite a lack of supporting evidence, many interventions continue to be used excessively, prompting efforts to curb unnecessary testing and treatments. Prevention remains the best treatment. [ABSTRACT FROM AUTHOR]

Background: Necrotizing enterocolitis (NEC) is the most common gastrointestinal emergency in neonatal intensive care units, making it one of the leading causes of neonatal mortality despite the progress of neonatal resuscitation. It is more prevalent in lower gestational age and lower birth weight groups. Objective: To describe the epidemiological, clinical, radiographic, therapeutic features and outcome of patients presenting NEC during hospitalization in a Tunisian Neonatal Resuscitation and Intensive Care Unit. Material & Methods: A retrospective descriptive study of patients presented NEC in our Neonatal Resuscitation and Intensive care unit over a two years period (March 2015 - March 2017). Results: We collected 17 patients, 8 male and 9 female. 14 patients were born prematurely. The median weight at birth was 1500 g with extremes between 1100 g and 1980 g. 9 patients were small for gestational age. The mean Apgar at 5 minutes was 6 ± 3. 6 patients had perinatal asphyxia. 15 patients had received an empiric antibiotic therapy at birth. 16 had an umbilical venous catheter. 3 patients had a maternofoetal infection and 7 patients had a healthcare associated infection. 11 patients required mechanical ventilation at birth with a median duration of 5 days and extremes between 2 and 12 days. 10 patients presented metabolic acidosis. Enteral feeding was started after 72 hours of life: 9 patients were breastfeeding and 7 patients had received an infant formula. Clinically, abdominal distension was noted in 13 cases, feeding residuals in 13 cases, apnea in 10 cases, abdominal tenderness in 8 cases and bradycardia in 4 cases. Symptoms were considered severe in 5 cases with schock. Rectal bleeding was noted in 3 cases. Abdominal X-ray was normal in 10 cases. It showed bowel dilatation in 6 cases, thickening of bowel wall in 3 cases, pneumatosis intestinalis in 2 and free intraperitoneal gas indicative of intestinal perforation in one case. According to the ell's criteria, 10 cases were classified as stage I, 6 as stage II and 1 as stage III. 15 patients underwent broad spectrum antibiotherapy, 12 in absolute diet. Mechanical ventilation was used in 11 cases. Only one patient with intestinal perforation underwent surgery. Evolution was favourable in 13 cases, 4 patients died. Conclusion. NEC represents only 8 to 12% of neonatal infections, but it remains a serious lifethreatening condition for newborns. We illustrate the risk factors of this disease and the different clinical features. Despite advancements in the knowledge and understanding of the pathophysiology of NEC, there is currently no universal prevention measure for this serious and often fatal disease. [ABSTRACT FROM AUTHOR]

Background. Incidence of infants born before 28 weeks gestation (WG) or extremely preterm infants (EPI) is in growth. We aim to evaluate the outcomes of EPI to facilitate formulation of perinatal guidelines and counseling. Methods: A monocentric prospective observational study in resuscitation and intensive care unit of neonatology of the military hospital of Tunis between 2008 and 2015, including live births between 22 and 27 WG and 6 days. We evaluated neonatal characteristics, health care practices, morbidity, mortality and neurological development at the age of 2 years. Results: We recorded 73 EPI (6.2‰ of total hospitalizations). EPI were born from multiple pregnancies in 32.9% cases and from assisted reproductive technologies in 20.5%. The average term was 26 WG and 5 days, the mean birth weight was 966 g. We noted a high rate of mortality (80%) respiratory morbidity (96%). For 19.2% of EPI, decision of limiting health care was taken. All newborns under 25 WG died. Three survivors developed cerebral pulsy. Conclusion: Being in a low incomes country we recommend to limit health care for EPI under 25 WG concidering the high risk of mortality and poly handicap. Ethic problems are to be considered between 25 and 26 WG. [ABSTRACT FROM AUTHOR]

Noonan syndrome and related disorders are a group of clinically and genetically heterogeneous conditions caused by mutations in genes of the RAS/MAPK pathway. Noonan syndrome causes multiple congenital anomalies, which are frequently accompanied by hypertrophic cardiomyopathy (HCM). We report here a Tunisian patient with a severe phenotype of Noonan syndrome including neonatal HCM, facial dysmorphism, severe failure to thrive, cutaneous abnormalities, pectus excavatum and severe stunted growth, who died in her eighth month of life. Using whole exome sequencing, we identified a de novo mutation in exon 7 of the RAF1 gene: c.776C > A (p.Ser259Tyr). This mutation affects a highly conserved serine residue, a main mediator of Raf-1 inhibition via phosphorylation. To our knowledge the c.776C > A mutation has been previously reported in only one case with prenatally diagnosed Noonan syndrome. Our study further supports the striking correlation of RAF1 mutations with HCM and highlights the clinical severity of Noonan syndrome associated with a RAF1 p.Ser259Tyr mutation.

Aims: To describe the transport of sick neonates to a tertiary care hospital and evaluate their condition at arrival and outcome., Methods: A multicenter, prospective cohort study was performed in 7 NICUs in Tunisia from 1st april to 31 July 2015.Demographic parameters, transport details and clinical features at arrival were recorded. All neonates were followed up till discharge or death., Results: A total of 239 consecutive neonates were enrolled in the study representing 5.7% of all admitted infants. Maternal risk factors were present in 26% of neonates admitted. Sex-ratio was 1.46. Preterm infants represented 24% of transported babies. Seventeen percent of neonates had severe respiratory distress and 10% had hemodynamic troubles. Referred hospital was not informed in 24% of cases. Regarding the transport mode, 113 newborns (47.5%) were transported in ambulance accompanied by a nurse. Documentation during transfert was present in 14% of cases. Five babies expired on arrival despite resuscitation.  Rate mortality was 8.4%., Conclusion: Transporting neonates in developing countries is a challenge. Organized transport services in Tunisia are not always available. So, in cases of at-risk pregnancy, it is safer to transport the mother prior to delivery than to transfer the sick baby after birth.

Background: Extremely preterm infants are newborns born before 28 weeks of gestation. Survival of these immature newborns depends on resuscitation and the quality of care during hospitalization., Objective: To determine survival and neurologic outcomes at2 years after extremely preterm birth., Methods: It is a retrospective multicentric study in 5 neonatal intensive care units (NICU) in 2012-2013.All live births less than 28 weeks gestation were included., Results: A total of 109 births were recorded. Prenatal corticosteroids were given in 47% of cases. Mean weight was 989g and mean age was 26 weeks gestation. Ninety percent of patients had respiratory distress syndrome and 67% of them needed respiratory support. Surfactant was given to 29% of newborns. The mortality rate atdischarge was 76%.The first cause of mortality was nosocomial infections. At thecorrected age of 2 years, 27% of survivors had abnormal neurologic outcome., Conclusion: In our study, survival and neurologic outcomes ofextremely preterm infants were poor.In this high-risk population, improving perinatal care remains a challenge to improve long-term outcome in Tunisia.

Background: As assisted reproductive therapies (ART) become more common in Tunisia, it was relevant to define the associated perinatal risks. The risk of multiple births and its correlate after ART were well admitted. We aimed to disclose whether ART were associated with increased perinatal risks in singletons and twins from ART comparatively with spontaneous conception., Methods: A retrospective descriptive and comparative study including all newborns conceived by ART and admitted between 1998 and 2015 and spontaneous newborns selected randomly. We compared separately singletons and twins from ART and natural conception for premature birth (PB) and low birth weight (LBW). For birth defects (BD), we compared the two groups condensed., Results: We identified 425 ART newborns and 322 controls. The risk of PB was statistically higher, in both ART singletons and twins than in controls. Among singletons, the use of ART was associated with statistically significant increased rates of LBW and VLBW. Among twins, this result was valuable only for VLBW. Newborns conceived with ART had a risk of BD that was three times higher than in controls. BD risk was statistically higher with ICSI (Intra Cytoplasm Sperm Injection), ovulation inductor and in vitro fertilization. BD risks were 2.4 times higher with ICSI than with all others therapies condensed., Conclusions: This study highlighted the increased perinatal risks even in singleton from ART comparatively with natural conception. The exact mechanisms underlying all these risks remain unclear. Further studies are required to prove the part of ART underlying parental factors, and sterility itself.

Congenital diaphragm eventration is a rare and usually asymptomatic developmental defect. Neonatal gastric perforation is also a rare but lifethreatening condition. In our knowledge, the association of these two pathologies has been, exceptionally reported. We report a case who illustrates clinical and radiological features of this possible co-morbidity. A full-term male neonate was born from uneventful pregnancy and delivery. The antenatal scan was reported as normal. At birth, clinical exam was normal, no special resuscitation was necessary. The newborn was examined and admitted the 4th day of life for fever, tachypnea, cyanosis, hemodynamic shock and refusing feeds. Clinical examination suggested peritonitis. Chest radiography and ultrasonography suggested congenital hernia. A laparotomy was performed after a brief resuscitation and confirmed the presence of diaphragm eventration with gastric perforation. Suturing of gastric perforation with a diaphragmatic plication was performed with favorable evolution.

Inherited ADMATS13 or Upshaw-Schulman syndrome (USS) is caused by the deficiency of the Von Willebrand factor-cleaving protease. It is characterized by recurrent episodes of thrombocytopenia reversible by fresh frozen plasma (FFP) infusions, microangiopathic hemolytic anemia, and microvascular thrombosis leading to ischemic damage of multiple organs with end stage renal failure, or neurological sequelae in the absence of appropriate treatment. The typically reported features of USS in neonates are severe jaundice with hyperbilirubinemia, thrombocytopenia and /or combs negative hemolytic anemia, and an increased creatinine.We presented a clinical case of USS with unusual features, which delayed the diagnosis.USS was declared at sixth hours of life with diffuse hemorrhage related to an early neonatal infection. Analysis of the plasma, at the age of 20 months, revealed low ADAMTS13 activity in the patient (<1%).Inherited ADMATS13 deficiency manifestations may overlap with other conditions, which may delay diagnosis and lead to visceral and neurological damage. The diagnosis should be, early considered in some clinical conditions: discrepancy between the severity of a hemorrhagic syndrome and thrombocytopenia, recurrence, resistance to symptomatic treatment. The diagnosis can be suggested by the normalization of platelet count after FFP transfusions.

Background: Povidone iodine (PVI) pleurodesis is commonly used in adult. However, this procedure is still nonconsensual in newborns., Aims: This article aimed to report a new case of refractory congenital chylothorax (CCT) managed with PVI pleurodesis with a review of previousreported cases., Methods: a systematic review of similar cases published in PubMed. Clinical patterns, therapeutic modalities and outcome variables werereported., Result: In a full term neonate presenting refractory CCT, PVI pleurodesis was performed at day 16 of life by one intrapleural instillation of PVI4% with rapid success and no side effects. Renal function and thyroid tests stilled normal before and after instillation. The analysis of 18 casesreported in Medeline and our observation provided the following data: this procedure was successful without side effects in 11/19 cases. Severeside effects were reported in four patients with high risks before procedure., Conclusion: PVI pleurodesis seems to be effective and inoffensive in the management of refractory CCT. It may be a good alternative tosurgery. Nevertheless, randomized studies on large neonatal population are required to precise: the risks and benefits of this procedure, thetiming and the modalities of its realization (duration of intervention, dilution and dosage of PVI) according to the patient`s field (gestational age,weight and associated morbidity).