[CRIB score: mortality, morbidity, and long-term neurologic development]. / CRIB score: mortalità, morbilità e sviluppo neurologico a distanza.

The purpose of this study is to assess the possibility of predicting mortality, major pathology and long-term neurodevelopmental impairment in very low birth weight VLBW infant using Clinical Risk Index for Babies (CRIB). We studied a cohort of 251 VLBW infants, whose CRIB could be calculated, born from 1995 to 1998 in our Unit. We analyzed the mortality before discharge, the incidence of chronic lung disease (CLD) and of retinopathy of prematurity (ROP), the length of stay before discharge and the neurodevelopmental impairment at one and two years of corrected age using the Griffiths developmental scales (impairment was defined by a general quotient of 85 or below). The CRIB score was divided into three risk groups: 0-5, 6-10 and > 10. Mortality rate raises with the CRIB's increase (respectively 5.6% in the first group, 32.4% in the second and 93.8% in the third group); besides the incidence of severe ROP and of CLD, calculated in infants survived > 28 days, is higher (18.4% and 40.7% respectively) in the second group than in the first (1.9% and 7.4% respectively). In the end, the incidence of neurodevelopment impairment at one and two years of corrected age is respectively 6.8% and 6.0% for children with CRIB 0-5 and 29.4% and 21.4% for children with CRIB 6-10. CRIB score is strongly associated with mortality and there is an increasing risk for severe ROP, CLD and neurodevelopment impairment from class 0-5 to class 6-10; no statement can be made for these diseases in class > 10 because there is only one survivor in this class.

[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.

Congenital toxoplasmosis: 10-year follow up.

A long-term follow up was begun in 1982 on offspring of mothers who acquired toxoplasmosis during gestation. The 114 newborns were subdivided into 3 groups: (1) 26 born to mothers with certain infection; (2) 51 born to mothers with probable infection, and (3) 37 born to mothers with doubtful infection. There were five infections in the first group (19.2%), three in the second (5.8%) and none in the third. For purposes of data elaboration we considered only the 77 offspring of mothers with certain or probable infection. Of these, 2 infected cases out of 52 (3.8%) were born to mothers with infection in the first trimester of pregnancy, 4 out of 21 (19%) in the second trimester, and two out of four in the third. There were a total of 8 congenital infections (10.4%). Specific IgM antibodies were revealed in five out of eight infected children (62.5%). Infection was symptomatic in two children (2.6% of newborns at risk, 25% of infected cases), both born to mothers with infection in the second trimester. In the other six cases diagnosis was reached by evaluating trends in antibody levels: the percentage of infected newborns was higher in the group of maternal infections untreated (50%) or improperly treated (15.4%), compared to those receiving adequate treatment (6.9%). We suggest considering as infected children presenting specific IgM antibodies and/or antibody titres which do not become negative, even when symptoms are absent. Therapy with spiramycin should be started in all newborns at risk, while the use of sulphamides and pyrimethamine is justified only after the presence of infection is confirmed.(ABSTRACT TRUNCATED AT 250 WORDS)