Ankyloblepharon Filiform Adnatum: Beyond the eye.

The ankyloblepharon filiform adnatum (AFA) is a rare congenital palpebral abnormality characterized by a partial non disjunction of the gray lines of upper and lower eyelids. We report two cases of newborns presenting with ankyloblepharon and highlight its potentially amblyogenic impact and the possible ocular and systemic associations.

In-hospital mortality of very preterm infants in a Tunisian neonatal intensive care unit: Prevalence and risk factors.

BACKGROUND: Prematurity is a major public health problem and it's associated with a high mortality and morbidity. In Tunisia, few investigations studied this area. AIM: To determine the rate and the risk factors of in-hospital mortality of very preterm infants. METHODS: We conducted a retrospective monocentric study. We included all premature Infants born at less than 326 weeks of gestation (< 33 Weeks) without major congenital anomalies admitted from January 2011 to December 2012 in the neonatal intensive care unit (NICU) of Charles Nicolle Hospital (Tunis-Tunisia). To determine in-hospital mortality related risk factors, we created and compared two groups:  group of "Survivors" until discharge from our hospital and group of "Dead" before discharge. Multivariable logistic regression models were used to assess the association between risk factors and in-hospital mortality. P-value < 0.05 was considered statistically significant. RESULTS: During the study period, 7606 livebirths (LB) were recorded; among them 113 were very premature infants. The prevalence of high prematurity was 1,4 % LB. Very premature infants were divided in 24 extremely preterm infant (13%) and 89 moderately preterm infants (87%). Mean weight at admission was 1338g (±349g) and the mean gestational age was 30 weeks (±1,7). The mean hospital stay was 26 days (±17days) with an average weight at discharge of 1942g (±249). Neonatal morbidity was mainly caused by respiratory distress (42%), early neonatal anemia (64%), intraventricular hemorrhagea (15%), associated-care health infection (37,6%). In hospital mortality rate was 32 %. Mortality risk factors identified through multivariate analysis were: extreme premature infant (p<0,05), extremely low birth weight (p<0,01) and circulatory disorders (p<0,05). CONCLUSION: Very preterm infant represented 1,4 % of all live births. The mortality rate of very premature infant is still high and mainly associated to neonatal respiratory distress. Improving prevention and neonatal management still very required.

Fetal Cyst Reveling Retroperitoneal Enteric Duplication.

Retroperitoneum is a very uncommon site of enteric duplication (ED). We report a new case of retroperitoneal ED cyst suspected in utero. Prenatal ultrasound showed an abdominal cystic mass. Noncommunicating retroperitoneal ED cyst measuring 70 mm × 30 mm was resected. Histopathologic examination confirmed the diagnosis.

Perinatal-lethal Gaucher disease presenting as hydrops fetalis.

Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis. Less common signs of the disease are hepatosplenomegaly, ichthyosis and arthrogryposis. We report a case of Gaucher's disease (type 2) diagnosed in a newborn who presented with Hydrops Fetalis.

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.

[Epidemiology of domestic accidents of young children in Tunisia: impact of the training of health professionals on data collection quality]. / Epidémiologie des accidents domestiques du jeune enfant à Tunis : Impact de la formation des professionnels de santé sur la qualité de la collecte d'informations.

BACKGROUND: In Tunisia, several studies on domestic injuries have been carried out on children attending care facilities. Nevertheless,there is a lack of data on incidence and kinds of child domestic injuries amongst general population because of absence of a reliable data collect system. AIM: To estimate the incidence and kinds of domestic injuries through a prospective survey "here-there" within two cohorts of young children attending two mother and child protection centers (MCPC) in Tunis during the three first years of their life and to analyze the importance of health professional training in improving data collect. METHODS: A prospective study "here-there" was carried out on two cohorts of children in two mother and child protection centers (MCPC) between January 2007 and December 2009. Only children aged less than 3 months at their first contact with the centers were included and followed up until age of 3 years. In the MCPC2 (cohort2), health personnel have been trained on data collection importance related to child domestic accident and asked to monitor accidents by calling parents while a phone line got available for this aim. In the MCPC1, health personnel was asked to work as they used to do and to collect data on child domestic injuries when children attend the center. RESULTS: 192/435 domestic accidents were recorded within cohort 2 vs only 1/686 within cohort 1. Annual incidence rate was 14.7% for the cohort 2. The kinds of accidents were: falls 78.2% (falls from high plans 84.6%), injuries15.1% (injury by cutting things 58.6%),burns 5.7% (burns by hot liquid 54.5%), intoxications 1%. In terms of damages, we recorded 4 cases of broken bones (thighbone, elbow,handwrist), stitches in 11 cases, broken teeth in 3 cases and nail pulled out in one case. No death was recorded. Training impact on accident prevention was not studied. CONCLUSION: Child domestic accidents are relatively frequent. Health personnel training allows to improve data. The kinds of recorded accidents indicate the need to educate parents on best practices towards strengthening prevention.

[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.

[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.