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Total persistent omphalomesenteric canal as a cause of small-bowel obstruction is an exceptional finding. A neonate presented with occlusion due to volvulus of the small bowel around a total persistent omphalomesenteric canal. Remnants of the duct were successfully resected and the postoperative course was uneventful.

Premature birth constitutes a major ordeal not only for the child but also the mother. It reveals the psychological capacities of mothers with depressive affects as signs. Hedi Chaker university hospital in Sfax in Tunisia carried out a study on mothers of premature babies. These mothers were significantly more depressed. Certain factors appear to favour the occurrence of postnatal maternal depression and must therefore benefit from specific support.

Preterm delivery is a particularly challenging experience that can be experienced by mothers as a traumatic event, causing dissociative reactions and authentic post-traumatic stress disorder (PTSD). In this work, we proposed to study the prevalence of perinatal dissociation and PTSD in mothers of preterm babies compared to a control group of mothers of term babies and to identify factors that may contribute to the occurrence of perinatal dissociation and PTSD following premature childbirth. We conducted a cross-sectional and comparative study, including 97 mothers of premature babies and 80 controls. We used the Perinatal Posttraumatic Stress Disorder Questionnaire to screen for PTSD, the peri-traumatic dissociation questionnaire to measure the level of perinatal dissociation, and the Perinatal Risk Inventory to assess perinatal risk. Compared to mothers of term infants, mothers of preterm infants had significantly higher rates of peri-traumatic dissociation and PTSD. Our results are consistent with previous studies, and add additional credit to the traumatic nature of preterm delivery. Setting up specific support modalities seems essential in the case of premature births in order to ensure a better quality of mother-child interactions and optimal development of the child.

Background Cystic lymphangiomas are rare congenital benign malformations of the lymphatic system. They are commonly located in the cervicofacial region. Clinical presentation depends on localization. Through this study we aim to identify epidemiology, clinical features, management and outcome of cystic lymphangiomas in the newborn. Methods It’s a retrospective study of all cases of cystic lymphangiomas registered in the neonatal intensive care unit of Sfax between 2008 and 2018. Results Six full term newborns were included with a female:male ratio of 4:2. Prenatal diagnosis was performed in all cases. At birth all newborns was asymptomatic. Post natal diagnosis was based on the ultrasound study in all cases. Magnetic resonance imaging was performed in three cases. We registered cervical localization in three cases, cervicomediastinal localization in one case, carvicomediastinal localization associated to multiple lesions of the right arm in one case and perirenal localization in one case. The mean size of masses was 8.6 cm (5 to 15 cm). Total resection was performed successfully for the perirenal lymphangioma at day 22 of life. In the post operative course the newborn developed a transient hypertension and an urinoma that regressed after 10 days of drainage. Incomplete resection was performed in one newborn having cervicomediastinal localization with close relation to the atrium leading to severe respiratory distress at day 4 of life. The patient died of severe sepsis on the post operative course. Embolization was proposed for two newborns but they rapidly died. For the two other cases we opted for monitoring. Spontaneous regression was then noted. No recurrence was registered in all surviving newborns. Conclusions Cystic lymphangiomas can arise in any organ or soft tissue. Mediastinal and abdominal localization are rare. Management and outcome depends on localization and relationship with adjacent structures. Less invasive therapeutic option and new therapies continue to emerge. However till now there are not uniform therapeutic protocols.

Background Hereditary Thrombophilia refers to the propensity to develop thrombosis. A homozygous abnormality or combination of two heterozygous abnormal factors can lead to clinically apparent thrombotic disorders at an early age. The aim of our study was to analyse the epidemiology, clinical presentation, causes, and management of hereditary thrombophilia in newborn. Methods It’s a retrospective study of all cases of hereditary thrombophilia registered in the neonatal intensive care unit of Sfax between 2014 and 2017. Results Seven full term newborns were included. They were 5 female and 2 male. Common clinical features were seizures, acute ischemic limb, mesenteric ischemia and skin necrosis (mean age of onset =5.21 days). Imaging identified stroke in 6 cases, subrenal aorta thrombosis in one case. We identified one case of protein S defesciency, 4 cases of isolated factor V leiden mutation, one case of isolated hyperhomocysteinemia and one case of combined factor V Leiden and hyperhomocysteinemia. The last one was presented with multiple cerebral and abdominal thrombosis. Family screening was performed in 3 cases. Treatment was based on Fresh frozen plasma transfusion in newborn who had severe protein C deficiency. None of our patients was treated with thrombolysis. During follow-up, there was no recurrence of thrombotic events. Three patients had neurological deficit. Two newborns died of disseminated intravascular coagulation. Conclusions Thrombotic disorders at an early age should lead to performing thrombophilia testing. Family screening is essential to detect asymptomatic deficiency . Clinical features and treatment depend on thrombosis localization and extension.

Background Congenital chylothorax (cc) is a rare condition. It consists on an accumulation of the chyle in the pleural cavity. It is associated with significant morbidities including respiratory distress, malnutrition, immunodeficiency and infections. The treatment of congenital chylothorax is still not well codified. We have focused on postnatal management and after review of the literature we propose an algorithm of the treatment of congenital chylothorax. Methods We report five cases of congenital chylothorax admitted to our neonatal intensive care unit between 2010 and 2018. Results There were 3 males and two females. Prenatal diagnosis was made in 4 cases. There were 4 full’s term newborns and one near term of 36 weeks. Pleural effusion was on the right side in three cases, on the left side in one case and bilateral in one case. Four cases required mechanical ventilation. Somatostatin was indicated in one case. The treatement was successful in four cases. One case presented a dysmorphic syndrome was died by pneumothoracis. Conclusions The treatment of congenital chylothorax is based on conservative management. Somatostatin or its analog octreotide are considered as an adjunctive treatement of congenital chylothorax. However, the refractory cases are treated with chemical pleurodenis or surgical treatment. We propose an algorithm of the treatment of congenital chylothorax after review of the literature.

Introduction Antenatal corticosteroid treatment is widely proved to be efficient in reducing hyaline membrane disease and prematurity complications. However, the effects of administering a course of corticosteroids to the mother prior to anticipated preterm birth on fetal and neonatal morbidity and mortality are still unclear. Therefore, the objective of this researchis to assess theses effects on preterm infants born before 33 weeks of amenorrhea. Patients and methods In this retrospective and descriptive study, we have considered all premature infants who were born before 33 weeks and hospitalized in the neonatology department of Sfax’s University Hospital Hedi Chaker (Tunisia) between 1 January 2014 and 31 December 2016. The short-term prognosis was compared for preterm newborns according to whether antenatal corticotherapy was performed or not. Results During the period of research, 565 premature infants born before 33 weeks of amenorrhea were hospitalized. Thus the rate of the early prematurity was 1.9%. Antenatal corticosteroids were performed in 76.1% of cases. The frequency of hyaline membrane disease was 22.8% in the presence of this corticosteroid treatment against 44.4% when it was not performed. The incidence of intracranial haemorrhage and ulcerative necrotizing enterocolitis was higher in premature infants who did not receive antenatal corticosteroid therapy. The overall hospital mortality was 25.1% in this series. It was significantly higher in the absence of antenatal corticosteroid therapy (39.3% versus 20.7%). The main causes of death were immaturity, hyaline membrane disease, nosocomial infections and intracranial haemorrhage. Conclusion The antenatal corticosteroid therapy has a great impact on mortality of preterm infants born before 33 weeks. Our findings highlight the value antenatal corticotherapy to reduce morbidity and mortality in these premature infants. Follow-up studies into childhood and adulthood, particularly in the psychomotor and neuro-development is needed and it would be especially relevant to explore this finding in adequately powered prospective trials.

Background Herpes zoster (HZ) is a cutaneous viral infection of the skin that presents in a dermatomal distribution. It represents reactivation of herpes varicella zoster virus that has continued to exist in a latent form in the neurons of the posterior root ganglia. Although it is rare to see HZ in children, cases have been reported after exposure to varicella zoster in utero or during the first months of life. Objective The purpose of this report is to present a case of herpes zoster in a 2-month-old infant, conservatively managed without oral antivirals, and its 5 years follow-up, demonstrating no sequelae or recurrences. Case report A 2-month-old female infant presented with skin lesions in the chest. His mother developed a varicella infection 20 days before delivery. The child was asymptomatic at birth. Physical exam noted a fever and skin lesions made of grouped vesicles on erythematous plaques. The characteristic herpetiform lesions distributed in the dermatome of the left hemi chest. The infant was treated by only local antiseptic treatment. The lesions were completely resolved in 2 weeks. After 5 years of follow-up the child has no sequelae, such as postherpetic neuralgia, or recurrence. Conclusion After maternal varicella during pregnancy, herpes zoster may occur in the first year of life in a completely asymptomatic child at birth proving in utero infection. The presentation of the rash is characteristic; but otherwise, the condition differs from that in adults in that it is mild and not associated with postherpetic neuralgia. In uncomplicated cases, conservative treatment measures support the quick resolution with no sequelae.

Background Congenital epulis is a rare benign oral cavity tumor that usually arises from the maxillary alveolar mucosa. It is also known as congenital gingival granular cell tumor. This tumor can interfere with respiration and feeding. Prenatal diagnosis is uncommon and mostly confined to the third trimester. Case report A 30-year-old woman, gravida 5, para 3, had an ultrasound examination at 30 weeks of gestation. A intraoral mass was noted to fill the fetus’s oral cavity. Therefore, the woman was referred to our departement of neonatology, but she refused the complement of th explorations and the transfer. At 37 weeks of gestation, an elective cesarean section was performed. The newborn female child weighed 3 kg who had a large mass occupying the oral cavity. The mass prevented normal closure of the mouth and interfered with breastfeeding, but did not pose an immediate airway concern. She was referred to our departement immediately after birth. On clinical examination, a pedunculated mass, exhibiting a grey ulcerated surface was located on the left side of the maxillary alveolar ridge. This mass measured 6 cm × 4.5 cm × 3 cm and prevented normal closure of the mouth and interfered with breast or bottle-feeding, but did not cause airway obstruction or respiratory distress. Examination of other systems was normal. A surgical excision of the mass was performed on the second day of neonatal life confirmed the presence of a tumor resembling epulis. The correctness of this diagnosis was subsequently confirmed by histogenesis. The intraoperative and postoperative courses were uneventful. The newborn recovered with no complications, and breastfeeding was initiated on the subsequent day of operation. Conclusion Early diagnosis of CE in a newborn is of paramount importance in the successful management of these rare cases.

Background Abdominal masses in neonates reflect a wide spectrum of diseases, from lesions that can cause significant morbidity and mortality, to conditions readily corrected surgically, to entities which may be safely observed. Objective To evaluate epidemiology, clinical features, management and outcome of abdominal masses in the newborn. Methods It’s a retrospective study of all cases of abdominal masses registered in the neonatology department of Sfax between 2004 and 2019. Results Thirteen patients were included in the study. A female predominance was noted (sex ratio = 0.18) . Antenatal diagnosis was made in 10 cases. Seven patients were born via cesarean section. The mean gestational age was 37.7 weeks. Mean birth weight was 3160 g. Three patients had fetal acute suffering and respiratory distress. The most frequent physical finding was palpable abdominal mass (n=9) . Ultrasonography (n =13), abdominal scan (n=3) and MRI (n =4) were used for diagnosis. Tumor sizes ranged from 4.6 to 10 cm. We had identified renal cystic lymphangioma (n=1), Infantile myofibromatosis (n=1), ileal duplication (n=3), hydrocolpos (n=4) and ovrian cysts (n=4). Total resection was the treatment for ileal duplication ,ovarian cysts and lymphangioma cysts cases.The newborn with infantile myofibromatosis received medical treatment (vincristine) after incomplete resection. The treatment of hyrocolpos was based on simple hymenotomy in two cases and laparotomy in the other two complicated cases. Mean follow-up time was 24 months. Only one patient who had giant hydrocolpos died of refractory shock and acute kidney failure 3 days after surgery. Conclusions Most neonatal abdominal masses are due to benign lesions. Some of them may provide diagnostic difficulties. Most of masses require surgical treatment, which can be safely performed in small infants by trained personnel. However genuine controversy exists in the management of some lesions including infantile myofibromatosis.

Background Transient cholestasis is common in neonatal intensive care unit. It accounts for 5 to 10% of neonatal cholestasis. Objectives To describe the characteristics of neonatal cholestasis and to identify the etiology and associated factors. Methods It’s a retrospective study registering 46 cases of transient cholestasis in the neonatology department of Sfax from 2010 to 2018. Results A great prematurity was noted in half of the cases as well as a hypotrophy. Perinatal asphyxia was noted in 41% of cases. Nosocomial infection was present in 50% of cases and severe hemodynamic disorders in 9% of cases. Four full term newborns had received intensive phototherapy. The average of parenteral nutrition duration was 18 days (1–64 days). The mean age at the time of diagnosis of the cholestasis was 29 days (3 to 69 days). Abdominal ultrasound showed vesicular lithiasis in two cases, portal vein thrombosis in two cases, and anaerobic abscess in one case. Etiological explorations were normal in all other cases. Follow up showed a disappearance of cholestasis and the restoration of liver function after 2 to 3 months. Finally, this transient cholestasis was related to an inspissated bile syndrome in the 4 full term newborns and a portal vein thrombosis in 2 cases. In the other cases, it was associated with prematurity with multifactorial mechanisms including hepatic immaturity, ischemic lesions secondary to perinatal asphyxia and hemodynamic disorders, parenteral nutrition and infections. Conclusions The results of our analysis suggest that most of these cases of transient neonatal cholestasis may result from the association of several factors including immaturity of bile secretion because of prematurity and perinatal insults leading to hepatic hypoxia or ischemia. Finally, the diagnosis of transient neonatal cholestasis should be considered only with the most extreme caution and after a careful and prolonged follow-up. It is mandatory to rule out other causes of neonatal cholestasis by conducting the appropriate investigations.

Introduction Acute necrotizing pneumonia associated to Panton-Valentine Leukodine (PVL) producing staphylococcus aureus is a recent clinical entity identified by Gilet and all in 2002. It’s a life threatening condition that can lead to rapid death despite a rapid management. It’s rarely described on young infants less than one year old. Methods We report the case of a two months old infant who was admitted in our unit for acute necrotizing pneumonia associated to PVL producing and Methicillin resistant Staphylococcus aureus. Results A two months old boy with no past medical history was admitted in our unit for acute fever. His mother was nurse in our unit and his father was a nurse in the intensive care unit. Physical exam on admission showed high fever with tachycardia and acrocyanosis. Blood count was normal. The C reactive protein level was of 13mg/l. Chest radiography showed an infiltrate of the right lobe. Empiric antibiotic therapy with cefotaxim and vancomycin was started. Six hours after admission the infant developed cyanosis an acute dyspnea. Control chest radiography showed a huge pneumothorax. Mechanic ventilation was then started and a chest tube was set up. Drainage of the pleural cavity brought a purulent fluid. Bacteriological examination of the pleural fluid revealed a methicillin-resistant and a PVL producing Staphylococcus aureus. The same germ was found in the nasopharyngeal swab of the two parents as well as the infant claiming then an intrafamilial transmission. Clindamycin was added to the initial antibiotic therapy. Follow up chest radiography showed pneumatocele. The evolution was favorable. Chest tube was removed after 5 days. The infant was extubated a day after and he was dischaged after 4 weeks of triple antibioticc therapy. He is now 9 months old. His physical exam is normal as well as his chest radiography. Conclusion The diagnosis of staphylococcic necrotizing pneumonia must be kept in mind every time one of these following signs is associated: viral infection preceding the onset, hemoptisis, rapid worsening, multilocular infiltrates, pneumatocele, pleural effusion or leucopenia. Moreover an association of anti-staphylococcal and anti-toxin antibiotic must be started even before bacteriological confirmation.

Introduction Despite recommendations for universal screening and intrapartum antibiotic prophylaxis strategies for pregnant women, group B Streptococcus (GBS) remains a major cause of neonatal disease. The aim of our study was to determine the incidence, risk factors and outcome of maternal-fetal infection (MFI) due to GBS. Methods A retrospective study of all cases of neonatal streptococcal B infections arising within 72 hours of birth between January 2012 and December 2017 in our department. Results Eighty-eight cases were indentified which represents 9.6‰ of total hospitalizations during the study period. The sex ratio was 1,4. Fifty four percent (n=48) of cases were associated to bacteraemia and only 2 cases of meningitis were noted. Infectious risk factors were acute fetal hypoxia (42%), peripartum maternal fever (35,2%) and membrane rupture more than 12 hours before delivery (26,1%). Sixteen percent of all newborns were premature and 19,3% had a low birth weight. 64.8% were symptomatic at birth. The main clinical signs were respiratory distress (82.5%), neurologic distress (17.5%) and fever (12.3%). Assisted ventilation was required in 11 patients, 5 of whom died. Predictive factors for bad prognosis were prematurity (2case), severe hypoxemia (2case), nosocomial infections (1case). Conclusions We noted a decrease in the mortality rate, due to advances in the neonatal care. However, neonatal streptococcal B infections still remain a significant problem of public health requiring additional preventive and therapeutic management based on systematic screening and antibiotic prophylaxis.

Introduction Arrhythmias in neonates are rare with an incidence reported to be 1 to 5%. Their diagnosis and treatment differs substantially from approaches used in an older child. Through this study we aim to identify epidemiology, clinical features, management and outcome of neonatal arrhythmias. Patients and methods It’s a retrospective study of all cases of arrhythmias hospitalized in the neonatal intensive care unit of Sfax between 2004 and 2018. Results We registered 10 cases of congenital atrioventricular block (AVB), 8 cases of flutter and 2 cases of chaotic tachycardia. A male predominance was noted with a sex ratio of 2.3. Prenatal diagnosis was performed in 5 cases of atrial flutter by fetal echocardiography which was indicated because of fetal anasarca in 3 cases, a dilatation of the right heart cavities in one case and a fetal tachycardia in one case. Prenatal treatment was administered in 4 cases of atrial flutter. It was based on amiodarone in one case, digoxin in two cases and digoxin associated with sotalol then relayed by flecainide in one case. Ten newborns presented signs of heart failure. For the others, the clinical manifestation was an anomaly of the heart rhythm (bradycardia or tachycardia). Diagnosis was confirmed in all cases by electrocardiogram. Echocardiography was performed for all patients. It showed tight pulmonary narrowing in a case of flutter and transient myocarditis associated to an AVB in one case. After birth, an external electric conversion was necessary in 4 cases of atrial flutter and a pacemaker implantation was indicated in 5 cases of AVB. In the other cases, the treatment was medical (amiodarone for tachycardia and Isoproterenol for AVB). Only 4 newborns with AVB died in the post operative course of the pace maker implantation. For all other newborns the evolution was favorable. Conclusion Neonatal arrhythmias can be serious and life threatening. The prognosis depends on the prompt of diagnosis which can be challenging at this age. Management must be rapid and multidisciplinary. Hence we insist on the importance of prenatal diagnosis.

Introduction Neonatal subcutaneous fat necrosis is a rare condition. It’s due to a transient panniculitis and present as an erythematous nodules and indurate plaques over bony prominences that appears in the first weeks of life. We aim to identify the risk factors, clinical aspects, and outcomes of this rare condition. Methods It’s a retrospective study including five cases of subcutaneous fat necrosis hospitalized in the neonatal intensive care unit of Sfax between 2016 and 2019. Results Two boys and three girls were registered. Only one newborn was a preterm of 35 weeks of amenorrhea. Two mothers had gestational diabetes and the others had uncomplicated pregnancies. Four newborns presented birth asphyxia requiring resuscitation in the delivery room. The median 1 – 5 minutes Apgar scores were respectively 5.8 – 7.5. Three newborns were macrocosmic. The others had a normal birth weight. Subcutaneous fat necrosis lesions were noticed by the two first weeks of life in all cases with a mean of 7.4 days (4 to 18 days).All newborns had diffuse skin lesions. It was meanly localized on the sacro-coccygeal region, back, shoulders and limb roots. All skin lesions resolved spontaneously within two to three months except for one newborn who presented a liquefaction of the content of one of his lesions by the day 11 of life. It was a median lesion measuring 6*10 cm localized in the back. Monitoring and laboratory analysis showed thrombocytopenia that preceded the onset of the lesions in all cases. It was severe in 3 cases with an average of 40 000 (27 000 to 58 000). Three newborns developed hypercalcemia. It was severe for only one newborn with a serum level reaching 4.42 mmol/L by day 30 of life. Follow up showed associated nephrocalcinosis in two cases and metastatic skin calcifications in one case. For the newborn with severe hypercalcemia, as initial treatment he received low calcium and vitamin D formula, hyperhydration, intravenous methylprednisolone and furosemide. Due to a lack of response, we started treatment with pamidronate with a favorable evolution. Normalization of the serum calcium level as well as the renal ultrasound was finally obtained by the age of 4 months. Conclusion Subcutaneous fat necrosis is a self-limited condition with a good prognosis generally. However, it may be associated to rare but serious complications especially thrombocytopenia and hypercalcemia.A long term clinical and biological follow-up for the possible onset of these complications is then necessary.

Background The past decade brought with it both highly sophisticated neonatal intensive care with improved perinatal mortality rates and increased risk for nosocomial septicemia and meningitis among survivors. Although most of these infections were caused by multiple antibiotic-resistant bacteria. The absence of specific clinical signs makes diagnosis of meningitis more difficult. Methods We enrolled neonates who were admitted to neonatal unit at at Hedi Chaker hospital, Sfax from 1 January 2007 to 31 December 2016 and had suspected nosocomial infection with abnormal cerebrospinal fluid examination. Results Five cases were reviewed, Among these 4 were girls (80%), All neonates were preterm between 27 and 34 weeks of pregnancy, with Low birth weight in 2 cases and very Low birth weight in 3 cases, the average age of diagnosis was 14.2 days after hospitalization, 4 (80%) of them had concomitant bacteremia, suspected bacterial infection was confirmed in 4 cases (80%), by positive results on blood culture in 4 cases but only one cerebrospinal fluid (CSF) culture was positive, Klebsiella pneumoniae was the leading pathogen. The case mortality rate (CMR) was 0.8. Four patients died and one case was cured but he developed a sequellae of psychomotoric retardation. Conclusion Preterm neonates have a high risk of developing nosocomial infections and especially Nosocomial Meningitis wich is related to a high case mortality rate, Definitive diagnosis is made by cerebrospinal fluid examination (CSF) via lumbar puncture (LP), which should be performed in any neonate suspected of having sepsis or meningitis. Future efforts should be directed toward better definition of bacterial virulence, host susceptibility and preventive measures.

Background Congenital lung malformations (CLMs)) comprise a group of anatomical abnormalities of the respiratory tree. The most common of which include congenital cystic adenomatoid malformation (CAM), bronchopulmonary sequestration (PS), bronchial atresia, congenital lobar emphysema (CLE) and bronchogenic cyst. These anomalies are detected with increasing frequency by pre-natal sonography. When symptomatic, there is little controversy that resection is indicated, which is usually curative. When a lesion is asymptomatic there is greater debate regarding the benefit of resection versus continued observation. The aim of this study is to analyse the management options available and the moyen-term outcomes associated with each treatment option. Methods We enrolled neonates who were admitted to the departement of neonatology at Hedi Chaker hospital, Sfax (Tunisia) within the ten last years and suffered from CLMs. Results Nine cases were reviewed. Among these 8 were boys (88%) and 3 neonates were preterm. The diagnosis was prenatal in 6 cases (66%) and foetal sonography was abnormal in 8 cases (88%). The adaptation to extrauterine life was good in 8 cases (88%). Six infants (66%) were symptomatic when admitted to neonatal unit. Radiological investigations ledeed to the diagnosis in all cases: 5 CAM, 3 PS and CLE in 1 case. Surgery was indicated for three patients. Two were operated before the age of 7 days due to severe clinical symptoms. The other patient was operated at the age of 7 years for possible malignant transformation of a PS. The surgical treatment involved a lobectomy for 2 patients and a thoracoscopy with malformation’s in the other case. The histopathological examinations confirmed the diagnosis in all cases. Except for one patient with CAM, who died a few days after a lobectomy due to acute nosocomial pneumonia, the evolution was good for 8 children with a mean of follow-up of 24 months (10 months to 10 years). Conclusion While the neonatal management of symptomatic CLMs is clear and includes prompt surgery, controversies remain for asymptomatic CPAM due to risk of infections and malignancies.

Introduction Full-term newborns mortality’s is a public health issue because of its unexpected impact either on the infant’s family and the medical staff, as opposed to the preterm death. Therefore, we aim to determine factors and causes associated with hospital mortality of full-term newborns. Methods This is a retrospective and descriptive study including all full-term neonates deceased before leaving hospital. The Data were collected between January 2016 and December 2018 from the neonatology department of Sfax’s University Hospital HediChaker (Tunisia). The International Classification of Diseases (ICD) codes’ have been followed to classify death’s diagnosis. Results During the study’s period 93 term newborns had died in the hospital. 68% were born by caesarean section and 24% had a low birth weight. The death occurred during the first week of life in 74% of cases. The leading causes of death were congenital malformations (56%) and perinatal asphyxia (22%). Only 2 cases were deceased by other causes than maternofetal complications. Conclusion The prenatal diagnosis of fetal anomalies and the quality of the childbirth monitoring are the main factors associated to the hospital term neonatal death. Further research is required to understand causes of full-term’s mortality so its incidence and effects can be reduced.

Introduction Wolf-Hirschhorn syndrome is a rare condition including a characteristic facial appearance, delayed growth and development, hypotonia, intellectual disability and seizures. Its frequency is estimated at 1/20000 to 1/50000 births with a female predilection. It’s due to a genetic material deletion near the short arm of chromosome 4 (4p-). Through this case report we aim to remind the mains and associated features of this rare disorder as well as its management. Methods We report the case of male newborn with a Wolf-Hirschhorn syndrome. Results A full term newborn was born by c-section indicated for a severe growth restriction. Birth weight was 1850 g, length was 45 cm and head circumference was 30,5 cm. Clinical examination at birth noted an important hypotonia, cyanosis with no associated signs of respiratory distress, distinctive facial features including a broad and flat nasal bridge, a high forehead, widely spaced eyes with iridian coloboma, poorly provided eyebrows, poorly formed ears with a pre-tragic fistula, micrognathia, thin lips and posterior cleft palate associated to a spina bifida occulta, posterior hypospadias, testicular ectopia and mottled skin. Echocardiography showed a type A interruption of the aortic arch. The ultrasound examination of brain and abdomen was normal. The genetic tests concluded to a wolf-Hirschhorn syndrome with a (4p) deletion. The boy died at the age of one month due to a severe bronchiolitis. Parental genetic tests are planned. Conclusion Wolf-Hirschhorn is a rare genetic disorder. It may be inherited but generally it occurs as a random event. Its outcome depends on associated malformations especially congenital heart disease. We insist on the importance of genetic counseling and antenatal diagnosis when index cases are registered.

Background Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital cutaneous vascular anomaly. About 300 cases were reported in the litterature. It is associated persistent cutis marmorata, telangiectasia, and phlebectasia. Case report We report a case of male neonate who has multiple bruises and purple macules on the skin anastomosed making a reticulated appearance as a spider’s web, those skin lesions cover the trunk and legs but did not affect the face and did not disappear during the warming of the baby. Limits between normal and involved skin were atrophic. Given the constellation of clinical finding, Cutis Marmorata Telangiectatica Congenita (CMTC) was diagnosed. The cranial ultrasound and the fundus eye were normal. Abdominal Doppler ultrasound was showed Compartmentalized cyst of the left kidney. The electroencephalography and the cardiac echography were normal. Conclusion CMTC is a rare skin disease whose determinism remains unknown. Other congenital anomalies can be seen. The prognosis depends on the associated anomalies but it is generally good. Some cases have spontaneous resolution.

Background In view of the multiplicity of places of birth and the scarcity of neonatal intensive care units, the transfer of sick newborns is necessary in several situations in order to provide them with the necessary care not available at the birth places. This transport exposes the newborn to some risks that may affect morbidity and mortality. Aims of the study To study the characteristics of transported newborns and the conditions of their transfer in order to identify the factors that can influence morbidity and mortality. Methods Retrospective chart review: the medical records of 273 newborns transported and admitted in NICU over a period of 3 years, from January 1, 2012 to December 31, 2014. Results The transfer rate during the study period was 6.4%. The private sector contributed in 57.5% of the transfers while the rest of the cases were originated from the peripheral maternities (25.2%). The main reasons for transfer were neonatal respiratory distress (62.3%), neonatal infection (43.2%) and prematurity (24.2%).Surgical diseases (or other malformations) were addressed mainly from peripheral maternities with a significant difference compared to the private sector. 89.4% of cases were transported in an ambulance with a very limited equipment (incubator, oxygen cylinder, rarely a scope) and in the presence of a single nurse and exceptionally a doctor. Incidents occurred during the transfer and were observed in 6 cases: accidental extubation, depletion of the oxygen cylinder. Complications were observed in 48.4 of the cases, the main one was iatrogenic infection (19.75%). The death rate was 13.6%: this rate is influenced by hypoglycaemia, hypoxia, surgical diseases and the use of mechanical ventilation. Conclusion The severity of the initial neonatal pathology conditionned the prognosis of the newborns transported which is also influenced by the conditions of the transport.

Background Neonatal lupus erythematosus (NLE) is an uncommon acquired autoimmune disease caused by transplacental passage of maternal anti-SSA/Ro and anti-SSB/La antibodies. The most common effects of NLE include cutaneous involvement and congenital heart block (CHB). The death rate of complete congenital heart block (CCHB), which is the most severe clinical manifestation, is as high as 20% to 30%. That’s why, early recognition of infants at risk is important. Objectives To investigate the clinical features and long-term prognosis of cardiac NLE. Methods A retrospective descriptive study of nine cases with cardiac events of neonatal lupus over a 15-year period from January 2003 to December 2018. The diagnostic criteria required the presence of clinical symptoms and positive autoantibodies both in the mother and her child. Results There were 9 patients (male: female ratio of 6:3). Sjogren syndrome was the most common maternal involvement. CCHB was detected in 7 patients of whom 2 patients had an antenatal diagnosis. Two other patients were presented with a cardiomyopathy with immediate heart failure in one case. Antenatal treatment with glucocorticoids and/or hydroxychloroquine was used in 3 cases (maternal connective disease in 2 cases and CCHB in 1 case). After birth, 2 patients were treated with isoprenaline and 6 of the 8 patients diagnosed with the CHB received single-chamber pacemaker implants. Immediate evolution was favorable for all patients. During the follow-up, two infants died. A cardiomyopathy appeared in one patient with CCHB one year after pace maker implanting. Conclusions CCHB is the most serious manifestation of the NLE associated with significant morbidity and mortality. Early diagnosis can lead to early treatment avoiding in some cases the onset of CCHB.

Introduction The use of central catheters in the neonatal period is essential for the management of neonates with vital distress or premature newborns. Nevertheless it can be associated to serious complications specially related to leakage of parenteral nutrition. Methods It’s a retrospective study of all cases of non infectious complication related to central catheter registered in the neonatal intensive care unit of Sfax between 2012 and 2018. Results We registered 5 cases of pericardial effusion, one case of pleural effusion, one case of ascites and one case of pneumopericardium. All newborns were premature (29 to 33 weeks of amenorrhea). Five patients had epicutaneo-cave catheters, two patients had umbilical venous catheters and one had broviac catheter. The catheter position was intracardiac in all cases. The incident occurred in an average of 2.75 days after the catheter insertion (1to 6 days). Clinical manifestations were no specific miming sepsis in almost all cases. Hemodynamic disorders with tachycardia, tachypnea and skin mottling were noticed in 4 cases of pericardial effusion. Three preterm newborns with tamponade presented moreover severe apnea. The newborn with ascites presented abdominal distension and tachypnea. Diagnosis was made by ultrasound exam in all cases related to leakage of parenteral nutrition. For the case of pneumopericardium diagnosis was made on chest radiography. Management consistent on oxygen administration associated to hemodynamic support all cases. An ultrasound-guide pericardium puncture was performed in four cases of pericardial effusion. The catheter was removed in five cases and repositioned in three cases. Outcome was favorable four all newborns. Conclusion Clinician should be aware of the risk of leakage of parenteral nutrition. Thus every neonate with central catheter must be monitored and the extracardiac position of the catheter must be systematically verified.

Introduction Cardiac tumors are rare in infant. Most commonly it’s a Rhabdomyoma with an incidence of 0.02% to 0.08%. These cardiac rhabdomyomas are usually multiple with a preferential location in the ventricular myocardium (up to 94%). We aim to evaluate the epidemiology, clinical features, management and outcome of this rare condition in neonates. Methods It’s a retrospective study of all cases of cardiac rhabdomyomas registered in the neonatal intensive care unit of Sfax between 2009 and 2018. Results Six full term newborns were included: one boy and five girls. Two of them were twins from a monochorial and monamniotic pregnancy. Prenatal diagnosis was performed in all cases. After birth, all newborns were asymptomatic. Physical exam revealed associated hemangiomas of the forearm in one case and hypomelanotic macules in 4 cases. Postnatal echocardiography confirmed the prenatal findings in all cases. Multiple lesions were noted in 4 cases. Ventricular location was found in all cases. Associated interventricular septum tumor was found in one case as well as a right atrium tumor in one other case. The mean tumor size was 16 *10 mm. No hemodynamic disorders were noted in all cases. The ophthalmologic and renal assessment was normal for all newborns. Brain MRI was performed in 4 cases. It revealed white matter anomalies and subependymal nodules confirming then the diagnosis of tuberous sclerosis in two patients. During follow up one of them developed focal seizures fully controlled by antiepileptic drugs. The evolution was favorable for all patients. All tumors regressed spontaneously within an average of three years. Conclusion Cardiac rhabdomyomas are benign tumors which tend to spontaneously regress during early childhood. However they may lead to arrhythmias or hemodynamic disorders due to ventricular inflow/outflow tract obstruction. Thus long term ultrasound follow up is needed. Moreover diagnosis of cardiac rhabdomyoma must lead clinician to look systematically for an associated tuberous sclerosis as it can be its earliest manifestation.

Introduction Hirschsprung’s disease is a congenital intestinal paralysis due to absence of ganglion cells in enteric plexuses. We aim to describe the specificities of the neonatal form. Patients and methods It is a retrospective study of 17 cases of Hirschsprung’s disease hospitalized in our unit between 2006 and 2018. Diagnosis was based on radiological and/or pathological signs. Results A male predominance was noted. Two newborns were premature. Two newborns had a congenital heart disease. One of them had Trisomy 21. Another newborn had hypothyroidism. An emission delay of meconium (average of 46 hours) was noted in all cases. The disease was revealed by a lower digestive occlusion in 7 cases, an acute enterocolitis in 2 cases and a bowel perforation in one case. The contrast enema practiced in 15 cases, was pathognomic in 13 cases. Rectal biopsy performed in 6 cases, confirmed histological diagnosis in all cases. Surgical treatment was performed in 9 cases with a median time between symptoms and surgery of 19 days. It was a colo-anal lowering in 7 cases, a resection of the right colon with double colostomy in one case and a right transverse colostomy in four cases. Outcome was favorable in 12 cases. Four newborns died consecutively to sever congenital heart disease in one case and sever sepsis in other cases. Conclusion Hirschsprung’s disease is the most common cause of digestive occlusion in the newborn. The main complications in the neonatal form are acute enterocolitis and intestinal perforation.

Introduction Bowel intussusception is an extremely rare postoperative complication of congenital diaphragmatic hernia. Any delayed diagnosis can be life-threatening. Clinician has to evoke the diagnosis every time symptoms of bowel obstruction appear after surgical repair. Methods We report the case of a newborn who presented an acute intussusception at the fourth post operative day of a congenital diaphragmatic hernia repair. Results A female full term newborn was operated for a congenital diaphragmatic hernia at her second day of life. Four days after surgery she started vomiting bile-stained fluid. Abdominal ultrasound showed an ileoileal intussusception with the classic target sign. Laparotomy evidenced a jejunojejunal intussusception associated to multiple intestinal adherences. The intussusception was manually reduced and the intestinal adhesions were released. The postoperative course was uneventful. She is now 2 years-old and she is healthy. Conclusions In our case, intestinal intussusception would be secondary to postoperative intestinal adhesions and peristalsis disorders during the phase of its reactivation in the first postoperative days.

Aim: To investigate the previously unknown birth incidence, treatment, and mortality of children with congenital heart disease in Tunisia. Methods: We undertook a retrospective review of medical records of all patients who were born in 2010 and 2011, and were diagnosed in Sfax (Tunisia) with congenital heart defect. Results: Among 37,294 births, 255 children were detected to have congenital heart disease, yielding a birth incidence of 6.8 per 1000. The most frequently occurring conditions were ventricular septal defects (31%), ostium secundum atrial septal defects (12.9%), and pulmonary valve abnormalities (12%). Coarctation of the aorta, tetralogy of Fallot, univentricular physiology, pulmonary atresia with ventricular septal defect, and transposition of the great arteries were found in 4.3%, 6.2%, 3.4%, 2.7%, and 2.7%, respectively. During the follow-up of 1 year, 23% of the children died. About three-quarters of those deaths happened before surgery. Conclusion: The present study is in line with the general estimates in the world. It has revealed a high case of mortality among the patients awaiting corrective surgery. These children need more facilities.

Donohue syndrome (DS) is a very rare autosomal recessive disease affecting less than one in a million life births. It represents the most severe form of insulin resistance due to mutations involving the insulin receptor (IR) gene "INSR". DS is characterized by pre- and postnatal growth retardation with failure-to-thrive, lipoatrophy, acanthosis nigricans, hypertrichosis, and dysmorphic features. An exhaustive INSR gene sequencing was performed after PCR amplification of coding exons and introns boundaries. Bioinformatic tools, including ESEfinder, MFOLD and Proter software were also used to predict the impact of INSR mutation on INSR on gene expression as well as on the protein structure and function. The results have shown a novel unusual c.3003_3012delinsGGAAG (p.S1001_D1004delinsRE) insertion/deletion (indel) mutation within the exon 16 in the three patients, which represent the fourth indel mutation within the INSR gene. The mutation modifies the secondary structure of DNA and RNA, as well as the composition of exonic splicing enhancers of exon 16. Moreover, despite the conservation of the secondary structure of the IR, the p.S1001_D1004delinsRE in-frame mutation is accompanied by the loss of four amino acids replaced by two residues of different nature and hydrophobicity level in the juxtamembrane domain of the receptor. The results have confirmed the role of the juxtamembrane domain of IR involved in a crucial interaction of the IR with cellular effectors essentially the IR substrate 1 (IRS-1), the SHC and the Nck proteins that ensure the signal mediated by the insulin transduction pathway in target cells. Our findings have also proven the genotype/phenotype correlation between INSR mutation and DS phenotype severity.

Crigler-Najjar syndrome is a rare metabolic disorder characterized by severe unconjugated hyperbilirubinemia resulting in deficiency of bilirubin uridine diphosphate (UDP) glucuronosyltransferase activity in the liver.To study the clinical, genetic therapeutic aspects and the outcome of Crigler Najjar type 1 in Tunisia.This is a retrospective report of Crigler Najjar cases who were hospitalised in pediatric department of Hédi Chaker hospital during 21 years (from 1st January to 31 December 2006).Our study included 30 cases of Crigler-Najjar syndrome; there were 10 females and 20 males (sex ratio = 2). The mean age of our patients was 41 days (4 days - 9 months). All patients were presented with intense jaundice. Sixteen patients had neurologic disorders since admission. Genetic analysis was performed in 9 patients; we identified the same mutation in all cases: -C1070G in exon 3 of the UDP glucuronyl transferase. Concerning therapeutic measurements, conventional phototherapy was used in all patients. A fatal out come was observed in 28 case; they died of kernicterus.Crigler-Najjar syndrome is a serious disorder which, when not treated, ultimately leads to brain damage (bilirubin encephalopathy) and death. That's why we must promote prenatal diagnosis and genetic council especially because of the big frequency of consanguinity in our country.