[Various features of neonatal outcome in assisted fertilization pregnancies]. / Alcuni aspetti dell'outcome neonatale delle gravidanze da fecondazione medico-assistita.

Assisted pregnancies have been often considered as high risk pregnancies because of several factors as increased maternal age, primary sterility, pharmacological treatments, embryos and gametes manipulation in the first weeks of life. Many studies showed high rates of perinatal morbidity (especially low birth weight and prematurity), and an increase of maternal morbidity and mortality. The present study was designed to analyse correlation between morbidity and twinning rate, and to show the distribution of birth weight in a population of neonates after assisted reproductive techniques (ART). We studied 352 newborns (168 singletons, 126 twins, 42 triplets, 16 quadruplets) from assisted pregnancies; morbidity was 7.1% in singletons, 11.9% in twins, 21.4% in triplets, raising to 56.3% in quadruplets. Our experience suggests that multiple gestations after ART seem to have an increased incidence of neonatal complications.

[Congenital malformations and asymmetric crying facies]. / Malformazioni congenite e asimmetria della bocca nel pianto.

Asymmetric crying face (ACF) means a congenital anomaly caused by either agenesis or hypoplasia of the depressor anguli oris muscle. This defect is on only one corner of the mouth since the birth, affects lower lip, and is particularly evident when the newborn is crying. Lesions at different levels of seventh nerve can cause similar and confounding weakness of the facial expressions. But, in case of ACF, forehead wrinkling, eye closure, nasolabial fold depth, and tearing are normal and symmetric functions. ACF can be either as single plain aesthetic defect or as early only index of several congenital malformations, especially of heart and genitourinary tract. Our study recognized 80 ACF cases in 11,643 newborn's population during a 34 consecutive month period: 34 on right side and 46 on left side of the mouth. ACF population presented a higher malformative risk than general population (on average 4.73% versus 3.3% of our base-line). Congenital anomalies were found more frequently associated with left ACF (3 versus 1, for a general rate of 6.52% versus 2.94%), on the same body side when anomaly was affecting pair organs. Those 3 congenital malformations were on genitourinary tract, 2 of which detected by ultrasonography. We did not find any congenital cardiac defects. According to opinion of numerous other researchers, we think ACF is not to be considered a simple aesthetic anomaly: therefore, in front of all ACF cases, a thorough search for associated anomalies should be performed.

[Steinert's myotonic dystrophy: severe neonatal form with unknown family history]. / Distrofia miotonica di Steinert: grave forma neonatale con famigliarità misconosciuta.

UNLABELLED: A child with severe generalized hypotonia and respiratory insufficiency, with an unknown positive family history for Steinert's disease, is referred. We want to point out the importance of correct anamnesis and of physical examination during pregnancy to suspect and diagnose rare and incurable fetal pathologies. CASE REPORT: The child was born after caesarean section. Polyhydramnios and decreased fetal movements were noticed during pregnancy. At birth, the baby presented asphyxia (Apgar 4/6) and respiratory insufficiency: he was then intubed. He received assisted ventilation for 37 days. At the physical examination, the child appeared hypotonic, hyporeflexic, without sucking reflex, with arthrogryposis and ligament laxity. On first day, chest X-ray showed paralysis of the right hemidiaphragm. His mother presented with hypotonia of the facial muscles, lid drop, light muscular weakness, positivity to neostigmine test: we then assumed that the baby was affected by transient neonatal myasthenia gravis and neostigmine was carried on. Anyway, the general conditions of the baby didn't improve. We were able to establish diagnosis of Steinert's disease (a form of muscular dystrophy with autosomal dominant inheritance with incomplete penetrance) after some other examinations (negativity of acetylcholine receptor antibodies, elevation of creatine kinase level, myopathic pattern on electromyography). Gene DMPK alteration was documented with a molecular genetic test.

[Neonatal pseudohypoaldosteronism: when a denied truth can delay a diagnosis]. / Pseudoipoaldosteronismo neonatale: quando una verità negata può ritardare una diagnosi.

A child with neonatal pseudohypoaldosteronism is referred. The diagnosis was delayed and complicated as her parents didn't tell us that her sister had been affected by the same illness. The child was born after premature rupture of membranes at 34 weeks. At birth, her conditions were satisfactory. The general conditions of the child gradually worsened and, though she regularly ate human pastorized bank milk, she didn't gain any weight. After 13 days she appeared dehydrated with marbled dry skin and haloed eyes, hypotonic and hyporeflexic. Her suction became more and more weaker, with frequent regurgitations and vomiting. Laboratory tests pointed out hyponatremia (110 mEq/l) and hyperkalemia (6.8 mEq/l). We were able to establish diagnosis of primary pseudohypoaldosteronism measuring plasma concentrations of aldosterone (> 5000 pg/ml), 17 hydroxyprogesterone (normal) and corticosteroids (normal). The child was then supplemented with sodium chlorure. A gradual improvement of general conditions took place. We assumed that both childrens and mother were affected by a milder form of primary pseudohypoaldosteronism, characterized by an autosomal dominant way of transmission. We found high levels of aldosterone with normal levels of blood salts also in the sister and mother patient's. After the neonatal period, pseudohypoaldosteronism can be only suspected in case of positive family history.