Prune belly syndrome: Approaches to its diagnosis and management.

Prune Belly syndrome (PBS) or Eagle-Barrett syndrome is an anatomo-radiological syndrome consisting of a complex and rare malformation characterized by the following triad of symptoms: deficiency of the abdominal muscles, malformations of the urinary tract, and bilateral cryptorchidism. The exact etiology is unknown, though PBS predominantly occurs in males. The clinical manifestations can vary widely, from stillbirth to renal and major respiratory dysplasia to almost normal children. The current study included a total of 3 patients. The findings included clinical characteristics, diagnostics, therapy, and clinical outcomes. All patients were diagnosed with congenital aplasia of the abdominal wall and a variety of urogenital malformations. Cryptorchidism and a mega-bladder were observed in 2 patients and distinctive renal malformations, such as renal dysplasia, were observed in 1 patient. Treatment varies but usually includes surgical management of symptoms. One patient required urgent urinary surgery; a vesicotomy was urgently performed due to anuria. These aspects explain the great diversity of opinions on the approach to this syndrome, but the severity of renal dysplasia is the main prognostic factor. Two newborns died a few days later due to severe renal failure. Despite these concerns, many patients with PBS report being in physical and mental health and having a good quality of life.

Transported neonates in Tunisia.

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

Biochemical and clinical profiles of 52 Tunisian patients affected by Zellweger syndrome.

BACKGROUND: Zellweger syndrome (ZS) is a peroxisome biogenesis disorder attributed to a mutation of the PEX genes family. The incidence of this disease in Africa and the Arab world remains unknown. This contribution is aimed at describing the clinical phenotype and biochemical features in Tunisian patients with ZS in order to improve the detection and management of this severe disorder. METHODS: A total of 52 patients diagnosed with ZS and 60 age- and sex-matched healthy controls were included in this study. Patients were recruited during the past 21 years, and the diagnosis of ZS was based on clinical and biochemical characteristics. Plasma very long chain fatty acids (VLCFA) were analyzed using capillary gas chromatography. The estimated incidence of ZS was calculated using the Hardy-Weinberg formula. RESULTS: The estimated incidence of ZS is 1/15,898 in Tunisia. Age at diagnosis varied between 3 days and 18 months. Severe neurological syndrome, polymalformative features, and hepatodigestive signs were observed in 100%, 67.9%, and 32% of patients, respectively. Values for plasma C26:0 and C26:0/C22:0 and C24:0/C22:0 ratios were noticeably higher in ZS patients than in controls. Distributions of values were completely different for C26:0 (0.10-0.37 vs. 0.001-0.009), C26:0/C22:0 ratio (0.11-1.29 vs. 0.003-0.090), and C24:0/C22:0 ratio (1.03-3.18 vs. 0.4-0.90) in ZS patients versus controls, respectively. CONCLUSIONS: This study highlights the high incidence of ZS in Tunisia and the possibility of simple and reliable biochemical diagnosis, thus permitting early genetic counseling for families at risk.

Retinol and Alpha-tocopherol in the Colostrum of Lactating Tunisian Women Delivering Prematurely: Associations with Maternal Characteristics.

BACKGROUND: This study aims to assess vitamin A and E concentrations in the premature colostrum of lactating Tunisian women and to identify maternal characteristics that may affect these concentrations. METHODS: Human colostrum was obtained from 105 mothers who gave birth prematurely in the Centre for Maternity and Neonatology of Tunis (Tunisia). Retinol and alpha-tocopherol were analyzed in the colostrum and in plasma by high-performance liquid chromatography. RESULTS: Retinol and alpha-tocopherol concentrations were 57.5 ± 50.1 µg/dL and 1222 ± 772 µg/dL in the colostrum, respectively, and 51.7 ± 20.0 µg/dL and 1351 ± 772 µg/dL in plasma, respectively. Concentrations of each vitamin in the colostrum were positively correlated with their respective concentrations in plasma (r = 0.415, p = 0.001 for retinol and r = 0.392, p = 0.003 for alpha-tocopherol). In multivariate analysis, colostrum vitamin A was associated with plasma vitamin A and preeclampsia, while colostrum vitamin E was associated with plasma vitamin E, gestational age, and preeclampsia. CONCLUSION: In Tunisian women, colostrum vitamin A and E levels are close to the average values reported in the literature. The levels are too low to cover the needs of very low birth weight (VLBW) infants, particularly in women with plasma vitamin deficiencies, preeclampsia, or very premature delivery. Given the undeniable beneficial effects of human colostrum, whenever feasible, VLBW infants should be fed colostrum. Infant vitamin A and E requirements should be met by milk fortification or supplementation.

Plasma arachidonic and docosahexaenoic acids in Tunisian very low birth weight infants: status and association with selected neonatal morbidities.

To study plasma arachidonic acid (AA) and docosahexaenoic acid (DHA) status in Tunisian very low birth weight (VLBW) infants and their association with selected neonatal morbidities. A total of 709 VLBW infants and 339 term infants were included. Plasma fatty acids were analyzed using capillary gas chromatography. VLBW infants had significantly (p < 0.001) lower plasma AA (9.44 ± 2.12 vs. 10.8 ± 2.10) and DHA (2.56 ± 0.89 vs. 3.46 ± 1.09) levels, but higher n-6:n-3 ratio (5.58 ± 1.22 vs. 5.17 ± 1.46) than term infants. In VLBW infants, plasma AA and DHA were related to gestational age (r = 0.156; p = 0.001 and r = 0.134; p = 0.003, respectively), birthweight (r = 0.242; p < 0.001 and r = 0.181; p < 0.001, respectively) and head circumference (r = 0.138; p = 0.005 and r = 0.108; p = 0.027, respectively). Infants with respiratory distress syndrome have decreased plasma AA and DHA and those with intraventricular hemorrhage have decreased plasma AA and n-6:n-3 ratio. Sepsis was associated with decreased DHA levels. Plasma long chain polyunsaturated fatty acids status is low in VLBW infants. These deficits may enhance the risk of common neonatal morbidities, rendering their prevention and correction greatly warranted.

Randomized pilot study comparing oral ibuprofen with intravenous ibuprofen in very low birth weight infants with patent ductus arteriosus.

BACKGROUND: We conducted a prospective, randomized, single-masked pilot study with the principal aim of comparing efficacy and tolerance between oral and intravenous ibuprofen in early closure of patent ductus arteriosus in very low birth weight infants. The possibility of ductal closure with only 1 or 2 doses of treatment was a secondary objective. MATERIAL AND METHODS: Sixty-four very low birth weight patients with echocardiographically confirmed patent ductus arteriosus and respiratory distress were studied. The patients were randomly assigned to receive either oral (group O, n=32) or intravenous (group I, n=32) ibuprofen starting on the third day of life. After the first dose of treatment in both groups, echocardiographic evaluation was performed to determine the need for a second or third dose. The rate of ductal closure, adverse effects, complications, and the patient's clinical course were recorded. RESULTS: In each group, 24 (75%) patients were born after 28 weeks' gestation. The rate of ductal closure tended to increase in group O (84.3% vs 62.5%). Closure of the ductus was obtained after 1 or 2 doses of treatment in 19 (70.3%) of 27 patients in group O and 14 (70%) of 20 patients in group I. The adverse effects were increased in group I (31.2% vs 9.3%). There were no significant differences with respect to complications during the stay. Adverse effects were significantly fewer when closure was achieved after an incomplete course of treatment (23.1% vs 76.9%). CONCLUSIONS: In very low birth weight infants, the rate of early ductal closure with oral ibuprofen is at least as good as with the intravenous route. Ductal closure may be obtained with an incomplete course of ibuprofen. Oral ibuprofen is associated with fewer adverse effects. However, a larger sample is needed for more definitive conclusions.