[Non-ketotic hyperglycinaemia: the report of four affected families]

Non -ketotic hyperglycinaemia is an autosomal recessive disorder of inborn glycine metabolism caused by a defect in the glycine cleavage system. This disease leads to severe neurologic disorders beginning frequently in the neonatal period. The authors report the six cases of affected newborns diagnosed in the Neonatal Unit of le Centre de Maternite et de Neonatalogie de Tunis during a period of 17 years

[Roberts syndrome - a report of three cases and review of literature]

The Roberts syndrome is a rare syndrome characterized by a severe growth deficiency, a midfacial defect with hypomelia. The authors report the first and only three Tunisian cases described until now, with a review of the literature

[Newborn of myasthenic mother - a report of three cases]

Neonatal myasthenia gravis is a rare neuromuscular disease. It can be congenital or transient. We report three cases of sick new-borns of myasthenie mother. Clinical manifestations vary. Two of the new-borns have severe disorders and died despite symptomatic treatment. The third one had no respiratory insufficiency. He had only hypomimia and inability to swallow, so that prognosis was better. With this observation, we will discuss some pathophysiological and clinical particularities, as well as the treatment and the prognosis of the neonatal myasthenia gravis

[Infant of diabetic mother, new epidemiology in [le centre de maternite et de neonatalogie] Tunis]

We retrospectively studied all infants of diabetic mothers [IDM] [n=326] born in the "Centre de Maternite et de Neonatologie de Tunis [CMNT]" during 2001. The purpose was to establish the epidemiological trends of IDMs and to analyze main perinatal complications. IDM group was compared for some variables to a control one of infants of non diabetic mothers [INDM]. Gestational Diabetes represented 80.2% of all diabetic mothers. Systemic hypertension associated to or preceding pregnancy was noted in 33.1% of IDMs. Delivery by caesarian section occurred in 54% of cases in the IDM group vs 29% in INDM group [p=0.0001]. Fetal macrosomia was the most frequent complication in IDM group [41.1%]. Congenital malformations were noted in 3.4% of IDM group and were more frequent if diabetes was pregestational. Other complications were frequently noted in IDM group such as prematurity [30.1%], hypertrophic cardiomyopathy [8.5%]; respiratory distress [13.1%] which was dominated by transient tachypnea. Metabolic complications where represented by hypoglycemia and hypocalcaemia [32.6% and 22.6% respectively]. Hyperbilirubinemia was observed in 8.3% and in 1.2% respectively in IDM and INDM groups. Neonatal lethality was 4% and perinatal lethality was 5.5% in IDM group. Comparing our results to the first studies carried out in the 80s in the CMNT, we noted significant decrease, in term of perinatal morbidity and mortality. This was explained by extension of screening policies associated with the multidisciplinary management of diabetic mothers and their offspring