Cerebral venous sinus thrombosis in childhood: clinical aspects and neurological and cognitive long-term outcome in three cases.

We report clinical findings, risk factors and neurological and cognitive long-term outcome in three Italian children aged 7, 8 and 5, respectively, who experienced cerebral venous sinus thrombosis (CVST). All children presented with headache, associated to nausea, vomiting and papilloedema. None suffered from epileptic seizures. In two of them a paresis of the sixth cranial nerve with diplopia was found. Diagnosis was confirmed by magnetic resonance imaging angiography (angio MRI) in all cases. In all patients plasma levels of protein C, protein S, antithrombin III (AT III), antiphospholipid antibodies (ApA) and homocysteine were detected. Furthermore, factor V Leiden mutation, prothrombin mutation G20210A and MTHFR mutation were searched for. A Protein C reduction was detected in all patients at onset; this finding, however, was not confirmed at follow-up in all of them. At one-year follow-up, neurological examination was normal in all children and neuropsychological assessment, aimed at excluding linguistic and non-linguistic cognitive deficits, revealed normal performances in two of them. In the third child, cognitive assessment confirmed a previously diagnosed developmental dyslexia.

Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.

Diamond-Blackfan anemia (DBA) is a congenital disease characterized by defective erythroid progenitor maturation and physical malformations. Most cases are sporadic, but dominant or, more rarely, recessive inheritance is observed in 10% of patients. Mutations in the gene encoding ribosomal protein (RP) S19 have recently been found in 25% of patients with either the dominant or the sporadic form. DBA is the first human disease due to mutations in a ribosomal structural protein. Families unlinked to this locus have also been reported. In an investigation of 23 individuals, we identified eight different mutations in 9 patients. These include five missense, one frameshift, one splice site defect, and one 4-bp insertion in the regulatory sequence. Seven mutations are new; one has so far been found in 8 patients and is a relatively common de novo event. Two mutations are predicted to generate a truncated protein. We also report the prevalence of RPS 19 mutations in the Italian DBA population, as shown by an analysis of 56 patients. No genotype-phenotype correlation was found between patients with the same mutation. The main clinical applications for molecular analysis are clinical diagnosis of patients with an incomplete form of DBA and testing of siblings of a patient with a severe form so as to avoid using those who carry a mutation and a silent phenotype as allogeneic stem cell donors.

[Vertical transmission of the hepatitis C virus]. / La trasmissione verticale del virus dell'epatite C.

The incidence of hepatitis C in childhood is approximately 0.4%. The mode of transmission can be parenteral, sexual, occupational and also vertical. The latter has an incidence that varies widely and it increases in the case of human immuno-deficiency virus (HIV) coinfection and high titers of HCV in the mother. The vertical transmission is not influenced by breast feeding, however, data are discrepant with regard to child delivery (cesarean section vs vaginal delivery). Ninety-seven babies born from mothers with hepatitis C from 1996 to 1999, were evaluated prospectively in the Day Hospital of the Pediatric Department of Parma. The protocol of observation established a blood sampling for titers of antibodies anti-HCV and HCV-RNA at the 3rd trimester of pregnancy and subsequent clinical and biochemical controls at 3-6-9-12-15 and 18 months. Thirty (31.2%) out of the 96 mothers evaluated were positive for antibodies anti-HCV and 66 (68.8%) were positive for antibodies anti-HCV and HCV-RNA. Five (5.15%) out of the 97 babies evaluated were infected by HCV. Of these 4 were delivered vaginally and 1 by cesarean section. Of the 3 babies born to mothers with HIV coinfection, none was infected by HIV, but 1 was infected by HCV. Vertical transmission is increased by HCV viral load or HIV coinfection in the mother. The vaginal delivery and breastfeeding do not represent an additional risk factor.

[Early discharge project appropriate for the healthy newborn]. / Progetto di dimissione precoce appropriata del neonato sano.

Recently the stay in the hospital of the pueperae and of their newborns has progressively been shortened in several Countries. A lot of reports evaluating the risks of early discharges have not shown any significant differences in the hospital readmission rates between newborn early discharged and case-controls. This phenomenon is occurring also in Italy and the early discharge after the delivery is one of the aims of the "Percorso-Nascita" in the National Health Program of 1998-2000. Since three years ago, in the Nursery of the Department of Neonatal Medicine of University of Parma we have been discharging the newborns at term in the second day of life, choosing the healthy newborns in agreement with the obstetricians. The increment of the early discharges has happened in our Department after realizing that those did not create an increment of the hospital admissions in the neonatal period. Since January 2000 in Parma the project of appropriate discharge named "around the cradle" derived from the cooperation between hospitals and territory is working. This project consists of a continuous essistential support for mothers and children throughout an organic integration between hospital and territory. The women that take part to this project have the opportunity to be discharged from the hospital between the 44 and the 56 hours after the physiological delivery, being followed at home by the local obstetrician and paediatrician. The project is divided into three parts. The first part, pre-partum, is based on the information that is delivered to all the pregnant women that are eligible; the second part, the hospital phase, implies the usual and routinary care to the pueperae and their newborns as well as the clinical neonatal and obstetrical evaluation that allows to select our cohort. In the latter phase, extra-hospital, the local paediatrician take care of the newborn and start examining him/her within 72 hours after the discharge, while the home assistance of the local obstetrician will be within 48 hours. After initial difficulties, the organization of this project is quite efficient with a constant increment of attending requests to our project by the patients. Of course this is an organizative model quite complex that needs to verify process, efficiency and results, but anyway it sees the cooperation among many professionists of different specialities: neonatologists, paediatricians, obstetricians, practitioners, all working together for a common programme.

Italian guidelines for the management of infectious complications in pediatric oncology: empirical antimicrobial therapy of febrile neutropenia.

The Italian Association for Paediatric Haematology and Oncology prepared a guideline document aimed at unifying and rationalising as much as possible the management of febrile neutropenia in children with cancer, because of the potential impact of these procedures on hospital costs and on the development of antibiotic resistance. Before starting anti-infective therapy, at least 2 blood cultures, a throat swab, urine-culture, and cultures from any suspected infected site, should be performed. Routine chest X-rays at onset of febrile neutropenia are probably not necessary, in absence of respiratory signs. At the present time, the safer option probably remains the combination of a beta-lactam and an aminoglycoside, and treating febrile neutropenia outside of hospital should be considered an investigational approach. The choice of the most appropriated regimen for each institution should be based also on the local bacteriological statistics and patterns of bacterial resistance. Antibiotic toxicity and cost should be other important factors. Every subsequent addition or substitution of antibiotics should be based on objective signs of clinical deterioration. The only accepted empirical modification is empirical antifungal therapy, while the empirical addition of a glycopeptide antibiotic cannot be recommended.

[Cholestasis caused by ulcerative Vater's papillitis in a child with AIDS]. / Cholestase secondaire à une papillite ulcérative de Vater chez un enfant atteint de SIDA.

A case of cholestasis induced by ulcerative papillitis in an 11 month-old boy with AIDS is described. Resolution of cholestasis has been achieved with medical therapy. The authors underline the necessity of repeated endoscopic follow-up to evaluate the risk of secondary papillary stenosis, a complication usually observed in adults.

[Considerations on the complications of epidemic parotitis]. / Considerazioni sulle complicanze di un'epidemia di parotite.

The AA describe 82 cases of complications occurred during an outbreak of mumps in 1980-81. Forty-two cases of meningitis, 4 of pancreatitis, 2 of orchitis and 2 cases of encefalitis occurred. All patients had eventual, complete recovery. The other cases are not specific complications. The treatment was almost entirely symptomatic. The headache of meningitis was relieved by a lumbar poncture. In the epicrisis of the AA these cases of complications have some importance in relation to the opportunity of getting herd vaccination against mumps.