Perinatal lethal type II osteogenesis imperfecta: a case report.

We report a new case of osteogenesis imperfecta (OI) type II which is a perinatal lethal form. First trimester ultrasound didn't identified abnormalities. Second trimester ultrasound showed incurved limbs, narrow chest, with hypomineralization and multiple fractures of ribs and long bones. Parents refused pregnancy termination; they felt that the diagnosis was late. At birth, the newborn presented immediate respiratory distress. Postnatal examination and bone radiography confirmed the diagnosis of OI type IIA. Death occurred on day 25 of life related to respiratory failure.

Isolated anti-Ro/SSA thrombocytopenia: a rare feature of neonatal lupus.

We report a rare case of isolated thrombocytopenia related to anti-Ro/SSA antibodies. The mother was followed for unlabeled familial thrombocytopenia. The mother had positive anti-Ro/SSA antibodies. She was asymptomatic without skin lesions or other criteria neither of systemic lupus erythematosus nor other connective tissue disease. Pregnancy was uneventful. The postnatal examination was normal. On the first day of life, blood cells count showed thrombocytopenia at 40 x 10(9)/L. Within the second day of life, platelet level dropped to 20 x 10(9)/L. The management of thrombocytopenia included platelet transfusion and human immunoglobulin infusion. On the fifth day of life, there has been a drop in platelet count to 10 x 10(9)/L requiring renewed platelet transfusion and human immunoglobulin infusion. On the 10(th) of life platelets rate was stable around 60 x 10(9)/L. The infant had no evidence of cardiac, dermatologic or hepatobilary involvement initially or throughout follow up.

[Outcome at 2 years of very premature infants. A Tunisian series]. / Devenir neurologique à l'âge de 2 ans des grands prématurés. Série Tunisienne.

BACKGROUND: Neurodevelopmental outcome of very premature infant can be associated with a high rate of cerebral palsy. AIM: To assess the impact of very preterm birth on neurological outcome at the age of two years. METHODS: Retrospective study of all cases of very premature infants born at less than 33 weeks of gestational age, during the years 2005 to 2007. Neurodevelopmental outcome is reported. RESULTS: During the study period, the very premature infant rate was 1.5 %. A complete information about neurological outcome at the age of two years, was obtained in 60 cases.Eight infants (13.4%) showed major handicap (cerebral palsy) and four others infants developed neurosensoriel difficulties. CONCLUSION: The incidence of neurosensoriel handicap in our population seems relatively high. A strong effort must be made for identification of risk factors of neurodevelopmental disability.

[Evaluation of materno-foetal infectious risk after isolated premature rupture of membranes in at term new-born]. / Évaluation du risque d'infection materno-foetale après rupture prématurée des membranes isolée chez le nouveau-né à terme.

BACKGROUND: Premature rupture of membranes (PROM) is defined as rupture of membranes occurring before the onset of labor. It complicates 5 to 10 % of pregnancies. It continues to be a major cause of morbidity and mortality in the newborn. AIM: To evaluate infectious risk associated with PROM in at term and asymptomatic new-born and to study this risk according to the duration of rupture. METHODS: Retrospective study in neonatal unit of Charles Nicolle hospital of Tunis including all cases with isolated PROM in at term new-born during the year 2007. RESULTS: 299 cases were identified over 3749 live births that is an incidence of 8 %, divided to: 21 cases (7 %) between 6 and 12 hours, 86 cases (28.8 %) between 12 and 18 hours, 61 cases (20.4 %) between 18 and 24 hours and 131 cases (43.8 %) more than 24 hours. Diagnosis of colonization was reported in 54 % of cases when PROM occurred between 12 and 18 hours versus respectively 27.3%, 0 % and 18 % in respectively subset of 6 to 12 hours, 18 to 24 hours and more than 24 hours (p=0,03). 62 % of foeto-maternel infections were reported in subset of PROM more than 24 hours and 13.8 % in the subset between 18 and 24 hours. CONCLUSION: Our study emphasizes the important risk of foetomaternel infection associated with isolated PROM. This risk is major when the rupture exceed 12 hours but the limit of 18 hours can unrecognized some cases of probable foeto-maternel infection.

Congenital cystic adenomatoid malformation of the lung: two case reports.

BACKGROUND: Congenital cystic adenomatoid malformation (CCAM) is a rare embryonic developmental abnormality with an incidence of one in 25 000 to 35 000 pregnancies. With advances in antenatal ultrasonographia (USG), CCAM has been increasingly diagnosed. After birth, the clinical appearance of CCAM can vary from immediately postnatal respiratory distress, to an incidental finding on chest radiography. AIM: To report two additional cases with CCAM different in clinical features. CASE REPORTS: The first case was a boy in witch diagnosis was suspected by antenatal USG; he was born at 37 weeks of gestation by cesarean section because of severe toxemia, and presented immediately respiratory distress. The chest x ray and computed tomography scan (CT scan) revealed a right CCAM. The second case was also a boy of an inducted threefold pregnancy, born at 30 weeks by cesarean section. He presented immediately respiratory distress. The diagnosis of a right CCAM was confirmed by clinical and radiological findings in postnatal period. CONCLUSION: The two cases described in this report show the disparity in clinical features of CCAM. Nowadays, antenatal echotomography can establish the diagnosis allowing optimum management.

[Neonatal respiratory morbidity after elective cesarean section at term]. / Morbidité respiratoire néonatale après césarienne elective a terme.

BACKGROUND: Incidence of elective caesareans at term is increasing these last decades with an associated increase of neonatal respiratory morbidity. AIM: To analyse the influence of elective Caesarean delivery at term on the incidence of neonatal respiratory distress in order to propose an effective strategy of prevention. METHODS: It is an analytical study compiling all births resulting from elective Caesarean at term (gestational age ranging between 37 and 41+6 GA), reported over two years period at the Charles Nicolle hospital (Tunis-Tunisia). We compared 250 live births, without maternal risk factors, delivered by elective Caesarean to 250 births delivered by vaginal way. RESULTS: Frequency of the elective Caesarean at term was of 3.6% live births; it was mainly indicated in the presence of a cicatricial uterus. The incidence of respiratory morbidity was 6% (15/250) in the group exposed to the elective caesarean versus 1.6% (4/250 cas) in the reference group, OR=3.9; 95%CI: [1, 28-11, 99] p<0.01. Before the term of 39 GA, OR=5.22; 95%CI: [1.14-23.87] p=0.01. After 39 GA, the risk of respiratory distress decreased: OR=1.86 95%CI: [0.30, 11.35] NS. The principal etiology of respiratory distress in the exposed group was the transitory tachypnea of the newborn. CONCLUSION: Incidence of respiratory distress was higher at newborn babies born from elective Caesarean with a significant reduction in this incidence after the term of 39 GA.

Pallister-Killian syndrome with additional manifestations of cleft palate and sacral appendage.

AIM: Reppor of a rare congenital abnormalities. OBSERVATION: We report a rare case of Pallister-Killian syndrome in a 33 weeks gestation infant. In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia and sacral appendage. These additional manifestations are not among the Pallister-Killian syndrome's features. The diagnosis was made in antenatal period by cytogenetic studies and showed mosaic 47, XY+i (12p). Presence of diaphragmatic hernia makes this syndrome, prenatally letal, similar to the Fryns syndrome and then requires skin biopsy and fibroblast chromosome examination for cytogenetic diagnosis.

[Neonatal hearing screening with transient otoacoustic emissions: pilot study]. / Dépistage systématique de la surdité en maternité par Oto-Emissions Acoustiques Provoquées (O.T.E.A.P): Etude pilote.

BACKGROUND: Bilateral hearing loss is present in 1-3 per 1000 newborn infants, and in 2-4 per 100 infants in the intensive care unit population. All infants with hearing loss should be identified before 3 months of age and receives intervention by 6 months. If undetected, this will impede speech, language, and cognitive development. In Tunisia, we do not have an exhaustive information on the real importance of the auditive handicap. The aim of our study was to evaluate the feasibility and the practical aspects of a pilot tunisian universal neonatal hearing screening (UNHS) program based on transient evoked otoacoustic emission reporting the incidence of hearing impairment in this population. METHODS: A prospective study during one year (01/05/2006 to the 30/04/2007). Transient evoked otoacoustic emission was planned for all live births. If the test could not be practised in maternity or that research was negative, an appointment was delivered for a research of the O.T.E.A.P in an interval of 1 week - 1 month. Infants who did not meet TEOAE pass criteria underwent diagnostic auditory brainstem response (ABR) testing. RESULTS: During the study period, 3342 live births were recorded, 3260 were included. Total coverage rate was of 41% (1333/3260). We recorded 3 cases of bilateral hearing loss (0.9 per thousand screened infants) and 5 with unilateral sensorineural hearing loss (1.5 per thousand screened infants). CONCLUSION: The incidence of congenital hearing loss in our population seems relatively high. Hearing screening for all neonates using transient evoked otoacoustic emission is feasible but several practical aspects should be revised.

Determinants of neonatal mortality in a Tunisian population.

BACKGROUND: In Tunisia, perinatal mortality remains a public health problem, currently estimated at 28 per thousand, including 15 per thousand of still birth rate and 10 to 15 per thousand of early neonatal mortality rate. The recent investigations show that about half of the deaths at less than five-years-old are of perinatal origin and that neonatal mortality represents two thirds of infant mortality. Published data regarding neonatal mortality and the causes of death are sparse. THE AIM: to evaluate the neonatal mortality rate over a 2 year period in our population study and to present data collected prospectively on the risk factors and the causes of all neonatal deaths. METHODS: A prospective cohort compiling all live births reported between January 2007 and December 2008 at Charles Nicolle hospital (Tunis-Tunisia). All the neonatal deaths that occurred before or after discharge or transferred to other hospitals and subsequently died are included. Births from termination of pregnancy were excluded from all the analyses. Causes of deaths were assigned according the International Classification of Diseases, Tenth Revision (ICD10). RESULTS: 88 neonatal deaths were recorded over 7285 live births (LB) that is a NMR of 12 per thousand LB. Early neonatal death occurred in 79 cases (88.7%), that is an ENMR of 10.8 per thousand LB. Risk factors directly related to neonatal mortality were prematurity (aOR=6.03- 95%CI: [2-18.13] p=0.001), neonatal respiratory distress (aOR=16.12 - 95%CI: [5.67-45.78] p<10(-3)), perinatal asphyxia (aOR=11.49 - 95%CI: [3.68-35.92] p<10(-3)), nosocomial infection aOR=8.71- 95%CI: [1.77-42.70] p=0.008, and small for gestational age aOR=7.11 - 95%CI: [2.23-22.69] p=0.001. 80.6% of underlying causes and 88.6% of immediate causes of death are gathered in the chapter "Certain conditions originating in the perinatal period". Maternal hypertensive disorders and extreme immaturity due to spontaneous prematurity were respectively responsible for 13.6% and 10.2% of underlying causes of neonatal death. CONCLUSION: Neonatal mortality remains high, dominated by the conditions originating in the perinatal period. The multitude of the risk factors implies the need for a multidisciplinary strategy of intervention, engaging the pre and perinatal prevention.

[Postpartum levels of glycosylated hemoglobin in mothers of large baby: a prospective study]. / Interet du dosage de l'hemoglobine glyquee (HBA1C) en postpartum chez les meres des nouveau-nes macrosomes.

BACKGROUND: The delivery of a large baby may indicate that the mother had abnormal glucose tolerance during pregnancy. Glycosylated hemoglobin (HbA1c) concentration might be expected to identify women who had high blood glucose concentration before delivery. AIM: The aim of this study was to identify retrospectively, gestational diabetes in mothers of large baby and determine the HbAlc cutoff value. METHODS: HbA1 was measured in 216 patients within the first three days of postpartum: 100 had large babies: weighing over than 4000 g and 113 had normal- sized babies (control group). We exclude mothers who had preterm, hypotrophy baby, stillborn, and diabetic mothers. RESULTS: The mean concentration of HbA1c was significantly higher in group with large babies than in group control (6.17% + 085 vs. 5.17 + 0.57 t = 9.78 p < 0.001). The value of HbAlc = 5.85%, evaluated by ROC curve, was considered as risk factor of macrosomia and then gestational diabetes. 83.5% of mothers with large babies had HbA1c ? 5.85 vs. 7.8% of those with normal sized babies (p < 0.0001). No other significant differences were found between the two groups in other parameters. CONCLUSION: HbA1c level may be of value as a postpartum screen for unrecognized diabetes and may help discriminate between a constitutionally large but otherwise normal newborn and a large infant of a diabetic mother. HbA1c measurements should be obtained in women with large babies, and, if upper than cutoff value found by curve ROC: 5.85%, maternal and fetal surveillance is recommended.

[Early-onset neonatal bacterial infections: a retrospective series of 144 cases]. / L'infection materno-foetale bactérienne: etude rétrospective a propos de 144 cas.

BACKGROUND: Early-onset neonatal bacterial infections continue to be a major cause of morbidity and mortality in the newborn. THE AIM of this study was to determine the incidene, the risk factors and bacterial epidemiology of these infections. METHODS: All cases of early-onset neonatal bacterial infections were identified for the years 2001-2003 using data from obstetric and neonatal reports at the neonatal unit of Charles Nicolle Hospital. RESULTS: 144 cases were identified over 11,201 live births, that is an incidence of 12.85 per thousand, of which 22 cases of sepsis infections. 22.9% of all newborns were premature and 18% had a low birth weight. Membrane rupture occurred more than 12 hours before delivery in 63.2% of cases and an intra-partum fever in 57.7% of cases. Half of newborns were symptomatic with a mean age of 7.5 hours at onset of symptomatology. The principal etiologic agents were Group B Streptococcus (GBS) and Escherichia coli (E.coli), responsible respectively of 50% and 29.1% of proved infections. GBS had been recognised as the most prevalent agent in term newborn (58.9%) and the E.coli in premature newborn (38.5%). The neonatal mortality before discharge was 2.77% of all cases. CONCLUSION: Neonatal bacterial infections continue to be a major cause of morbidity in the newborn. The most common etiologic agents remain GBS and E. coli.

[Neonatal mortality and morbidity in newborn newborns of single mothers]. / Morbidite et mortalite des nouveau-nés issus de mères célibataires.

BACKGROUND: Newborns of single mothers constitute a high risk population for intra-uterine growth retardation (IUGR) and neonatal mortality. AIM: Our study analysed the influence of this socio-economic factor on neonatal mortality and morbidity. METHODS: A retrospective cohort compiling all births resulting from illegitimate pregnancies reported between January 2001 and December 2003 at the Charles Nicolle hospital (Tunis-Tunisia) "IG = illegimate group" (n=75), apparied for mothers gestity, parity and age, to 75 legitimate births "LG=legitimate group" reported after or before each illegitimate birth. RESULTS: The mean age for mothers in the "IG" was 24.3 years. The mean of prenatal consultations was 0.5 in the "IG" vs. 5.2 in the "LG" (p < 0.001). Delivery by caesarean section was of 6.7% in the "IG" vs. 18.7% in the "LG" (p = 0.049). Prematurity was observed in 17% in the "IG" vs. 8% in "LG". IUGR was observed in 29% of "IG" vs. 4% in "LG" (p < 0.001). Neonatal mortality was of 4.1% in "IG" vs. 1.3% in "LG". CONCLUSION: These results indicate the importance of illegitimate pregnancies as a demographic risk factor of neonatal morbidity. The IUGR was the most significant risk factor associated to illegitimate pregnancies.

Concordant posterior urethral valves in male monochorionic twins with secondary prune belly syndrome.

BACKGROUND: Posterior urethral valves (PUVs), the most common congenital cause of lower urinary tract obstruction, have been described to occur in identical and nonidentical twins. Until now, reports have been published on 15 cases of PUVs. AIM: We report a new case of concordant PUVs in one set of male monochorionic twins with secondary Prune Belly Syndrome. CASE REPORT: The twins were born by elective cesarean section at 38 weeks of gestation to a 36-year-old mother, gravida 6, para 6. On ultrasound perfomed at 18 weeks's gestation, both fetuses showed signs of PUVs. At birth, physical examination of both revealed a secondary Prune Belly Syndrome (PBS). Postnatal renal ultrasound confirmed the diagnosis of PUV. The two infants underwent transurethral resection of the valves after a cystoscopic evaluation of the urethra. Since this procedure, their voiding has been unremarkable with stable renal function and sterile urine until their discharge. CONCLUSION: We have documented a rare association between VUP and PBS in two monochiorionic twins. More studies are needed to throw light on the significance of the present associated anomalies.

[Isolated fetal pyelectasis: pathologic significance and therapeutic implications]. / Les pyélectasies anténatales isolées: signification pathologique et implications thérapeutiques.

We report a retrospective study of nine neonatal observations of antenatal isolated pyelectasis during a period of two years. Pyelectasis associated with other congenital abnormalities and in utero died foetus were excluded. Finding interesting sex, gestational age at diagnosis, echographic aspect, antenatal management and postnatal follow-up were assigned. Foetal kidneys was noted in two cases and an oligoamnios was noted in two other cases. No foetal urinary intervention was assessed. Postnatal exploration revealed a transitional pyelectasis in four cases, an ureteropelvic junction obstruction in four cases and a congenital megauretere in one case. Postnatal renal function was decreased in two cases. Postnatal surgery was assessed in two cases and a spontaneous regression under a sequential treatment occurred in the other three cases. Isolated foetal pyelectasis can have a pathologic significance.This examination permits, in plus, to evaluate the renal prognosis. Antenatal therapeutic implications of interruption of pregnancy or urinary intervention are still not clear and those after birth depend essentially on renal function determined by scintigraphy.