Alessandra Rossi Ricci

Un caso di Sindrome di Prader-Willi ad esordio neonatale

We report a case of Prader-Willi syndrome in a female newborn admitted the third day of life to the neonatal intensive care unit for severe hypotonia, weight loss and feeding difficulties.

Diagnosi prenatale tardiva di infezione da Toxoplasma Gondii: un grave caso di idrocefalo

We describe a case of severe fetal hydrocephalus due to Toxoplasmosis which could not be diagnosed until late gestational age due to the lack of a serologic surveillance during pregnancy. Abnormal ultrasound in the third trimester revealed a massive bilateral ventriculomegaly and Toxoplasma Gondii was demonstrated in maternal blood. This case is an example of severe fetal toxoplasmosis diagnosed in utero.

Patologia autoimmune: outcome gravidico e neonatale

The pregnancy of a woman with autoimmune disease should be considered at risk because of the inflammation process, the possible transplacental passage of maternal autoantibodies to the fetus and the possible conse-quences of the therapy performed during pregnancy. The purpose of this study was to evaluate the influence of autoimmune disease or autoantibody positivity on pregnancy and neonatal outcome. Data from 60 infants born to 55 women with autoimmune disease or with autoantibody positivity during pregnancy were collected. The results revealed a higher incidence of miscarriage (24.3% vs 10-15%), preterm (21% vs 5-9%) and low birth weight (<2500 g) (23.3% vs 10.5% ) in women with autoimmune disease than the general population. There was however no significant difference on the number of IUGR (6.7% vs 3-7%). The 45% of pregnant women presented obstetric complications. The assessment of antibody titers in infants showed positivity in 67.3% of those born from ANA positive mothers, 16/16 (100%) infants born to anti-SSA/Ro positive mothers were positive, as the only case of ENA Scl-70 positivity was trans-mitted, 4/5 (80%) of those born from mothers anti-SSB/La positive were positive. In our series, anti-SSA/Ro antibodies were present at birth in 16 infants, but no baby developed atrioventricular heart block, in agreement with the low rates found even in recent studies. There were no significative electrocardiographic abnormalities: nonspecific abnormalities of repolarization (22.91%), prevalence of right heart (33.3%), slightly lengthened cQT interval (4.17%). Ecographic investigations documented 2 cases of cardiac interventricular defect, and at cere-bral ultrasound 3 cases of intra-ventricular hemorrhage wich resulted in multicystic leukomalacia, 2 cases of white matter leukodystrophy with agenesis of the corpus callosum. Mild anemia (12.3% of the cases) and thrombocytopenia (5.4%) were detected. No cases of cholestasis were reported. In conclusion, for the increased risk of obstetric complications and the possible negative effects on the newborn, a careful monitoring of preg-nancies of women with autoimmune disease and a complete follow up of infants is necessary.

Stridore laringeo in un neonato a termine

Lo stridore laringeo e il rumore causato dall’alterato passaggio dell’aria attraverso le basse vie aeree. Si tratta di un segno clinico e non una diagnosi. Lo studio endoscopico delle alte e basse vie aeree in anestesia generale rap-presenta il gold standard nella diagnosi di stridore, sebbene rivesta un ruolo altrettanto importante la valuta-zione pre-endoscopica che include la storia clinica, l’esame fisico e lo studio radiologico. La paralisi delle corde vocali e la seconda causa piu frequente di ostruzione congenita delle vie aeree con stridore laringeo, ed e una tra le piu importanti cause di problemi respiratori in epoca neonatale. Riportiamo il caso di un neonato con paralisi transitoria congenita associata a discinesia esofagea e stridore neonatale.

Un nuovo caso di sindrome di Hallermann-Streiff

Hallermann-Streiff Syndrome (HSS) is a rare disorder characterized primarily by head and face anormalities, with dental abnormalities also present in 50-80 percent of cases. The first description seems to have been made by Aubry in 1893. HSS was first described completely in 1948 by Hallermann, and then in 1950 by Streiff. In this paper, we report the case of a newborn with HSS who presents facial abnormalities, frontal and parietal bossing, retrognathia, a beak-shaped nose, microphtalmia, congenital cataract, nystagmus, crypthorchidism, hypotrichosis, premature dental eruption and failure to thrive.

Sindrome da banda amniotica

Constriction band syndrome is a relatively rare condition in which fetal parts become entangled in the amniotic membrane, leading to deformation, malformation and amputation. Ultrasonographic analysis allows prenatal detection of constriction band syndrome by visualization of amniotic bands attached to the fetus. Treatment of constriction band syndrome must be individualized, and ranges from cosmetic repair to emergency limb-sparing band release. We report an infant with deep amniotic bands who recived treatment with circumferential Z-plasty.

Efficacia del trattamento con octreotide in un caso di linfangectasia polmonare congenita

Congenital pulmonary lymphangiectasia is a rare condition that may present antenatally with pleural effusions and hydrops. This condition is associated with congenital chylothorax, that is the accumulation of lymphatic fluid within the pleural space. We report the use of the octreotide (a somatostatin analogue) in the treatment of congenital chylothorax in a newborn with severe non-immune hydrops who had previously failed conservative medical therapy. The patient improved rapidly after initiation of octreotide with complete resolution after 13 days of continuous therapy (7 microg/kg per hour).

Un caso di Sindrome di Bartter ad esordio prenatale

Antenatal Bartter Syndrome (ABS) is a rare autosomic recessive tubulopathy characterized by idiopathic hydramnios, fetal polyuria and elevated levels of amniotic chloride. It is associated with hypokalemic metabolic alkalosis with high renin and aldosterone plasma concentration with low or normal blood pressure. Bartter Syndrome is related to mutations affecting several transporters in the loop of Henle. We report an infant with antenatal Bartter syndrome, who improved with potassium and sodium supplements.