Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report.

BACKGROUND: Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. The c.1331 + 1G > A mutation is one of the most common described in North Africa including Tunisia, Algeria and Libya. We report here the clinical and genetic profile of a Moroccan family with Allgrove syndrome. CASE PRESENTATION: A Moroccan sister and brother born to consanguineous parents were found, at the ages of twelve and fifteen months old respectively, to have alacrimia and isolated glucocorticoid deficiency. Later, they developed achalasia whereupon Allgrove syndrome was diagnosed clinically and confirmed by DNA sequencing which revealed a c.1331 + 1G > A mutation in the AAAS gene. CONCLUSION: This finding reinforces previous studies in demonstrating the geographic expansion of the ancestral mutation c.1331 + 1G > A in North African patients and thus enabling targeted genetic counseling. To the best of our knowledge, this is the first report of the AAAS gene mutation in Moroccan patients.

[Breastfeeding preterm infants at 6 months in Morocco: prevalence and associated factors]. / Allaitement maternel chez le nouveau-né prématuré à l'âge de six mois au Maroc : prévalence et facteurs associés.

PURPOSE: Evaluate the rate of breastfeeding at hospital discharge and then at 3 and 6 months in a population of premature infants. Analyze demographic and neonatal characteristics that may influence breastfeeding. METHOD: Prospective study in children born before 37 weeks of gestation from 1 June 2011 to 31 December 2011 hospitalized in the neonatology department at the Rabat children's hospital. The sociodemographic data and initial breastfeeding decision were collected from mothers. Newborns were reviewed in consultation at 1, 3, and 6 months to determine dietary habits. The association of variables with breastfeeding was analyzed by univariate and multivariate analysis using a logistic regression model. RESULTS: The analysis was based on 170 mother-infant pairs. At discharge, 80% of preterm infants received partial breastfeeding and 12.4% exclusive breastfeeding. At 6 months, 8.8% of mothers breastfed exclusively, 32.4% partially, and 58.8% had stopped breastfeeding. The factors associated with breastfeeding at 6 months were the duration of hospitalization in a neonatology unit and a neonatal intensive care unit, the time to first expressing breast milk, and breastfeeding. There was an inverse link between breastfeeding rates and duration of stay in neonatology in multivariate analysis with an odds ratio (OR) of 1.3 and a 95% confidence interval (1,1; 1,7); P=0.015. CONCLUSION: In our context, the rates of breastfeeding in premature infants remain below the recommended goals. The negative impact of the length of stay in the neonatal unit on breastfeeding is a challenge for health professionals who must adapt and strengthen the strategy of encouragement and support breastfeeding during the stay in neonatology and after discharge to ensure adequate nutrition for premature infants.

Association of N-acetylcysteine and glucagon during percutaneous cholangiography in the treatment of inspissated bile syndrome.

Inspissated bile syndrome (IBS) is a rare neonatal disease. In the majority of cases, it resolves spontaneously and treatment is conservative. Follow-up is recommended with close monitoring of laboratory tests. When IBS does not resolve spontaneously, a catheter can be inserted into the gallbladder for cholangiography, which allows irrigation and drainage. Despite this treatment, some biliary tract obstruction may persist. We report on the case of a 3-month-old infant whose continuous biliary obstruction caused by IBS was successfully managed by interventional radiology with the association of N-acetylcysteine and glucagon. Even as first-line agents, these would allow more rapid clearance of gallstones and prevent infectious complications of indwelling catheters as well as decrease the need for surgery.