Acute neonatal appendicitis is very rare in the neonatal period. It is usually associated with comorbidity including prematurity. Symptoms are non-specific. The prognosis is marked by high risk of mortality and morbidity. Here, we report a case of preterm new born who presented with sepsis, apnoea, and digestive signs. The laparotomy revealed perforated appendicitis complicated with peritonitis.

Background. Progress in prenatal diagnosis and prenatal screening in the past 2 decades has facilitated improved diagnostic methods for fetal abnormalities. Objectives. To assess the indications for late termination of pregnancy, gestational ages and to discuss ethical and legal considerations. Methods. A retrospective study compiling and analysing data from justified medical terminations of pregnancies, reported between January 2001 and June 2012 at Charles Nicolle Hospital. Congenital infectious embryofetopathies were excluded. Results. Over this period, there were 77 cases of clinically justified medical terminations of pregnancies-a rate of 1.9 per 1 000 total births. The mean gestational age was 27 weeks. In 33 cases, the medical abortion was performed beyond 26 weeks (42.8%). Fetal malformations were predominantly of the central nervous system. Conclusion. Medical terminations of pregnancy for fetal indications are relatively rare. However, they raise ethical, medical and legal issues, due in part to a late prenatal diagnosis. Such decisions should be taken through a multidisciplinary committee.

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 109/L. Within the second day of life, platelet level dropped to 20 x 109/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 109/L requiring renewed platelet transfusion and human immunoglobulin infusion. On the 10th of life platelets rate was stable around 60 x 109/L. The infant had no evidence of cardiac, dermatologic or hepatobilary involvement initially or throughout follow up.

We report a new case of osteogenesis imperfecta (OI) type II which is a perinatal lethal form. First trimester ultrasound didn't identified abnormalities. Second trimester ultrasound showed incurved limbs, narrow chest, with hypomineralization and multiple fractures of ribs and long bones. Parents refused pregnancy termination; they felt that the diagnosis was late. At birth, the newborn presented immediate respiratory distress. Postnatal examination and bone radiography confirmed the diagnosis of OI type IIA. Death occurred on day 25 of life related to respiratory failure.

Background: Williams-Beuren syndrome (WBS) is a rare multi-system genomic disorder, caused by 7q11.23 microdeletion with a prevalence of 1/7500 -1/20,000 live births. Clinical phenotype includes typical facial dysmorphism (elfin face), mental retardation associated with a peculiar neuropsychological profile and congenital heart defects. Other signs are occasional like ocular, skeletal, renal and dental anomalies. Here in, we present 38 WBS Tunisian patients. Methods: All patients underwent a genetic consultation and in order to confirm the clinical diagnosis of WBS, fluorescent in situ hybridization (FISH) was applied on metaphase spreads using the dual color locus specific identifier WBS region probe (Vysis probe) that hybridized to the ELN and LIMK1 loci at 7q11.23 and to control loci D7S486 and D7S522 at 7q31. About 15 to 20 metaphases were analyzed for each case. Results: The mean age at diagnosis was 4 years and 4 months. All patients showed facial dysmorphism. 66% (23/35) have cardiovascular anomaly, peripheral pulmonary stenosis (10/35) is interestingly more frequent than the supravalvular aortic stenosis (7/35). Various degrees of mental retardation were present and a normal intelligence was found in three patients. The unique cognitive profile was found in all patients except one who had autistic disorders. Ocular anomalies (13/38) were less frequent than described, the skeletal anomalies too