[Neonatal screening of G6PD deficiency in Tunisia]. / Depistage neonatal du deficit en G6PD en Tunisie.

The Glucose-6-phosphate dehydrogenase (G6PI) deficiency is the most common enzymopathy worldwide. WHO had classified Tunisia among countries that are moderately affected by this affection. However, no mass-screening reflecting the real incidence was realized. The aim of this study is to determine the prevalence of this enzymopathy and its molecular basis in Tunisia. A total of 1102 neonates, born in CMNT center of Maternity and of Neonatology of Tunis during the going periods from April, 2005 till May, 2005 and from June, 2006 till September, 2006, have been enclosed in the study. The samplings included 953peripheral venous blood and 149 blood cordon. Among 1102 samplings, only 976 were of use to the screening. In our mass-screening, we consider all newborns that were born in the CMNT during the period of study and were included in the screening. A dosage of the enzymatic activity was realized using spectrophotometric method. G6PD electrophoresis and molecular study by PCR/RFLP were realized for the overdrawn newborn children. Among 976 screening neonates, 43 individuals (4.4%) were found to be G6PD deficient by quantitative enzyme assay. Newborn affected were distributed in 23 boys and 20 girls (sex ratio of 1.15). The electrophoretic mobility and the molecular biology were realized for the affected newborn. Molecular characterization of 30 G6PD deficient neonates revealed that the G6PD A- was the most common and was detected in 20 of 43 individuals (66.7%), followed by G6PD Mediterranean that was detected in 6 (13.3%). At least, 4 other unknown mutations were not able to be determined by PCR/RFLP (n=4). In conclusion G6PD deficiency is frequent in our country, justifying a systematic neonatal screening, to avoid the arisen of grave consequences of this affection. The African variant is the most frequent in our country followed by the Mediterranean one.

Stenotrophomonas maltophilia responsible for respiratory infections in neonatal intensive care unit: antibiotic susceptibility and molecular typing.

OBJECTIVE: The aim of this study was to investigate the molecular epidemiology of Stenotrophomonas maltophilia strains responsible for respiratory infection in a neonatal intensive care unit (NICU) in Tunis City, isolated during 22 months (December 2003-September 2005). MATERIALS AND METHODS: Twelve strains of S. maltophilia isolated from tracheal aspirates of distinct infants and two environmental strains were tested for antibiotic susceptibility and genotyped by pulsed-field gel electrophoresis (PFGE) method. RESULTS: Unlike a large heterogeneity demonstrated by the antibiotyping method, PFGE identified two concomitant outbreaks consisting of nine, including an environmental strain (clone A), and four strains (clone B), respectively; a distinguishable strain was classified in a unique pattern (PFGE type C). The long-term dissemination of these strains is a characteristic feature of these outbreaks. Improvement of hygienic conditions attributed to a markedly decrease in their isolation frequencies. Concomitant outbreaks and long period persistence of S. maltophilia in NICU is an important finding of this study. CONCLUSION: Identification of two clonal strains of S. maltophilia responsible of respiratory infection. Epidemic strains are hardly eradicated when colonization is established.

Brûlure oculaire sévère par projection de soude.

Chemical corneal burns are a common pathology. Those with strong bases penetrate deeply into the anterior segment and are particularly severe. We report the case of a patient suffering from corneal perforation secondary to an accidental projection of soda, and we propose to discuss the clinical and therapeutic particularities.

[Preeclampsia increases the risk of hyaline membrane disease in premature infant: a retrospective controlled study]. / La prééclampsie augmente le risque de maladie des membranes hyalines chez le prématuré : étude rétrospective contrôlée.

OBJECTIVES: Relation between preeclampsia (PE) and hyaline membrane disease (HMD) is still controversial. We found interesting to contribute to the study of this relation by comparing a HMD group to a control group with the aim to know if the risk to develop HMD was more important in case of PE. MATERIAL AND METHODS: Two groups of premature infants (HMD group and control group) weighing less than 2000g and hospitalized between 1st January 2004 and 31st December 2005, were compared for data concerning mother (age, parity, diabetes, corticotherapy), PE (severity, complications, type and treatment), delivery (mode, infectious context, perinatal asphyxia) and neonatal stay (gestational age, birth, weight, sex). A multivariate analysis by logistic regression was used to control the effect of potential confounding variables that were considered risk factors for HMD. RESULTS: Ninety-seven neonates were retained and were compared to 97 control. PE was present in 71 cases in HMD group and in 51 cases of control group. This difference was statistically very significant (p=0.003). When we controlled for confounding variables, there was a significant increase in risk to develop HMD (odds ratio, 1.3; 95% confidence interval, 0.7-1.8). CONCLUSION: The risk to develop HMD, in premature infant weighing less than 2000g, is increased in case of PE. These finding support that fetal lung maturity is not accelerated in PE, in the opposite, it is delayed.

[Vein of Galen aneurysmal malformation: a neonatal case with unusual evolution]. / Anévrisme de l'ampoule de Gallien: à propos d'une observation néonatale d'évolution inhabituelle.

We report on a neonatal patient case with a cerebral vascular dilation consistent with a vein of Galen malformation diagnosed on an antenatal doppler ultrasound examination. Antenatal diagnosis was confirmed by fetal MRI scan. After delivery, cerebral MRI scan found the same dilatation and showed no cerebral parenchymal damage. The infant's condition was stable and particularly there was no congestive cardiac failure. Before discharge at ten days of age, clinical examination and particularly cardiac examination was normal. At 14 days of age, symptoms in relation to a congestive cardiac failure appeared. Echocardiography showed a high output cardiac failure with no cardiac malformation. Infectious laboratory tests were normal. Evolution was initially favourable after digitalo-diuretic treatment. Unfortunately, death occurred at 36 days of age due to intractable cardiac failure. This case highlights that, unusually, heart failure can occur long after the first days of life in cases of Galen vein aneurysmal malformation. The optimal time for vascular embolization in neonatal cases of Galen vein aneurysmal malformation is discussed.

The Antley-Bixler syndrome. A new case without radiohumeral synostosis.

The author report a new case of the syndrome described by Antley and Bixler. It concerns a female new-born who presents a craniosynostosis with brachycephaly, midface hypoplasia, unilateral choanal atresia, multiple joint contractures and arachnodactyly. There was no bowing of the femora and only the radius and the ulna were bowed. The absence of radiohumeral synostosis reported in all observations of the literature represents the main particularity of this observation.

[Wolman disease]. / La maladie de Wolman.

BACKGROUND: Wolman disease is a severe disease associated with hepatosplenomegaly and adrenal calcifications; it is nearly always fatal in the first year of life. CASE REPORT: A boy was born to consanguineous parents. His weight was 3,500 g, height 53 cm. Hepatomegaly was observed at the age of 26 days; he also had vomiting and watery stools with failure to thrive. Diagnosis of Wolman disease was suspected due to family history. Two sisters had died at the age of 3 months without precise diagnosis; both had abdominal distension, hepatosplenomegaly, anemia and inanition; CT scan showed calcifications of adrenal glands in one of them that had been attributed to adrenal hemorrhage. Investigations in our patient showed no adrenal calcification, hepatomegaly without splenomegaly, anemia (Hb: 8 g/100 ml). Liver biopsy showed enlarged and vacuolated parenchymal and Kupffer cells but the marrow did not contain foam cells. Acid lipase deficiency was demonstrated in cultured skin fibroblasts, permitting prenatal diagnosis in a further sib. CONCLUSION: This case of Wolman disease was the first seen in Tunisia; it was inherited as an autosomal recessive disorder; this patient, as two of his sisters, died during the first 6 months of life.

[Congenital fibrolipoma of the mesencephalic protuberation area]. / Fibrolipome congénital de la région mésencéphaloprotubérantielle.

BACKGROUND: Congenital origin of brain fibrolipoma is still debated. A case of such a tumor is presented. CASE REPORT: A female newborn presented with severe hypotonia and macrocephaly that were seen since birth. She died at the age of 2 days. Post-mortem examination showed hydrocephaly due to a tumor located in the mesencephalo-protuberantial region. Histological features of this tumor were those of a fibrolipoma. CONCLUSION: The presence of this brainstem tumor at birth confirms its congenital origin.

[Twin pregnancies: incidence, fetal development and perinatal mortality]. / Les grossesses gémellaires: fréquence, développement foetal et mortalité périnatale.

The authors study 233 pairs of twins in a big maternity of Tunis, they analyse the frequency, the intra-uterine growth and the perinatal mortality. The frequency of twinning was 1.56%, the occurrence of preterm delivery was 45.92% and foetal hypotrophy was observed in 9.84% of the cases. The perinatal mortality rate was 143.77%: still born = 55.79% and neonatal deaths = 87.98%; the ratio of still born to neonatal deaths was 1.6. 29.3% of the neonatal twin deaths were due to hyaline membrane disease, 24.5% to immaturity, 14.6% to perinatal asphyxia and 12.4% to infection. The authors compare their findings to other studies on twin pregnancies.

[Tracheal atresia. A case report]. / Atresie tracheale. A propos d'un cas.

The tracheal agenesis is a rare malformation of the respiratory tract. It must be suspected in any new born with respiratory distress, absence of crying, and difficulty or impossibility of intubation. Since the initial case report by Payne in 1900, 87 cases have been reported in the literature. The authors report one case of tracheal agenesis out of 2500 autopsy realised in the laboratory.

[Prolonged pregnancy: apropos of a series of 102 cases]. / Grossesses prolongées: a propos d'une série de 102 cas.

UNLABELLED: It was a retrospective and continuous prospective study about 102 post-term pregnancy recensed on a 14 months period. The aim of this study is to evaluate our management of post term pregnancy and the peto-maternal morbidity and mortality. RESULTS: Frequency of post-term pregnancy in our study is 5.92%, in rate of session sector is not higher it is of 18.62. There is no maternal mortality. Neonatal mortality is a about 19/1000, the rate of neonatal morbidity is 2.9%.

[Antenatal diagnosis and contribution of fetopathologic examination in the management of omphalocele]. / Diagnostic antenatal et apport de l'examen foetopathologique dans la prise en charge de l'omphalocele.

The omphalocele is an average coelosomie, frequency of which is estimated at 1/5000 births. We confront diagnosis antenatal with the exam foetopathologic in purpose of 41 cases of omphalocele brought together over a period going from January 1, 1991 till December, 2000 in the unity of foetopathologie from the CMNT. The frequency of omphaloceles is 4.88% of the children malformed and of 1.64% of the set (group) of the performed an autopsy children. An association malformative was found in 85.4% of cases and a karyotype typical aberration trisomie 13.18 and 21 was identified in 17% of cases. The preview of the children bearers of this deformation is especially bound (connected) to the existence and to the gravity of associated abnormalities. The omphalocele required a multidisciplinary making coverage intervernir obstetriciens, néonatologistes, surgeons pediatre and foetopathologistes.

[Fetal pathology study of 88 cases of letal spina bifida]. / Etude foeto-pathologique de 88 cas de spina bifida létaux.

Lethal spina bifida continue to be frequent in Tunisia; we report 88 cases of letal spina bifida: 1.05 per thousand births. This pathology was more frequent with women. The up letal spina bifida situated is predominant with female and the dow spina bifida situated is frequent with male. We have noted an association with anencephalia (46 cases) and hydrocephaly (21 cases). Prevention is based on obstetric health care and hygiene dietetic advices to avoid alimentary deficit.

[Diagnosis of holoprosencephalia. Report of 17 cases]. / Diagnostic de l'holoprosencephalie. A propos de 17 cas.

OBJECTIVE: To establish the epidemiologic profile of holoprosencephalia and determine benefits of ultrasound and foetopathologic examination to the diagnostic. METHODS AN MATERIAL: [corrected] Retrospective study about 17 cases of holoprosencephalia observed in CMNT between Janaury 1992 and September 2000. RESULTS: Ultrasound diagnosis was made in 13 cases (75%). Ultrasound criteria were; absence of median structure of the brain and unique ventricule. The prognosis was always bad. Foetopathologic examination revealed 7 cases of lobar holoproencephalia and 10 of semi lobar. Fascial dysmorphia were noted in 82% of cases. CONCLUSION: The foetopathology and genetic counselling looking for fascial, dysmorphia in family's members gives a good evaluation of recurrences.

Iron stocks and risk of anemia in twins.

This study aims to compare the risk of anemia by iron deficiency in mothers and infants of twin and single pregnancy. It concerned 33 couples of twins and 31 control, all 97 being term newborns. At birth, ferritinemia is significantly lower in twins, and reticulocytes count is significantly higher; their mothers have a significantly lower hemoglobin level and higher reticulocytes percentage and count. At 3 and 6 months, hemoglobin level and mean corpuscular hemoglobin are significantly lower in twins, as at 6 months ferritinemia is significantly lower in twins. Iron stocks constituted in utero are significantly lower in twin pregnancy, and this study support the early preventive iron treatment in twins.