HaemophiliaVolume 14, Issue 5 p. 1117-1121 Cerebral sinus venous thrombosis with parenchymal infarcts in a newborn with severe haemophilia A and subdural haematomas E. ZANON, E. ZANON Department of PediatricsSearch for more papers by this authorC. GENTILOMO, C. GENTILOMO Department of PediatricsSearch for more papers by this authorA. LAVERDA, A. LAVERDA Department of PediatricsSearch for more papers by this authorA. SUPPIEJ, A. SUPPIEJ Department of Neuroradiology, University of Padua Medical School, Padua, ItalySearch for more papers by this authorG. SAGGIORATO, G. SAGGIORATO Haemophilia Center, Clinica Medica II, Department of Medical and Surgical SciencesSearch for more papers by this authorR. MANARA, R. MANARA Department of Neuroradiology, University of Padua Medical School, Padua, ItalySearch for more papers by this authorP. SIMIONI, P. SIMIONI Department of Neuroradiology, University of Padua Medical School, Padua, ItalySearch for more papers by this author E. ZANON, E. ZANON Department of PediatricsSearch for more papers by this authorC. GENTILOMO, C. GENTILOMO Department of PediatricsSearch for more papers by this authorA. LAVERDA, A. LAVERDA Department of PediatricsSearch for more papers by this authorA. SUPPIEJ, A. SUPPIEJ Department of Neuroradiology, University of Padua Medical School, Padua, ItalySearch for more papers by this authorG. SAGGIORATO, G. SAGGIORATO Haemophilia Center, Clinica Medica II, Department of Medical and Surgical SciencesSearch for more papers by this authorR. MANARA, R. MANARA Department of Neuroradiology, University of Padua Medical School, Padua, ItalySearch for more papers by this authorP. SIMIONI, P. SIMIONI Department of Neuroradiology, University of Padua Medical School, Padua, ItalySearch for more papers by this author First published: 28 August 2008 https://doi.org/10.1111/j.1365-2516.2008.01794.xCitations: 3 Zanon Ezio, Haemophilia Center, Azienda Ospedaliera di Padova, Department of Medical and Surgical Sciences, via Giustiniani 2, Padua 35128, Italy.Tel.: +390498212666; fax: +390498212661;e-mail: [email protected] Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 DeVeber G, Andrew M, et al. Cerebral sinovenous thrombosis in children. N Engl J Med 2001; 345: 417–23. 2 Franchini M. Thrombotic complications in patients with hereditary bleeding disorder. Thromb Haemost 2004; 92: 298–304. 3 Kulkarni R, Lusher JM. Intracranial and extracranialhemorrhages in newborns with hemophilia: a review of the literature. Am J Pediatr Hematol Oncol 1999; 21: 289–95. 4 Douvas MG, Monahan PE. Life threatening thrombosis complicating the menagement of hepatic hemorrage: anticoagulant treatment in a newborn with hemophilia B. J Pediatr Hematol Oncol 2004; 26: 258–63. 5 Kimitaka T, Atsushi N. White matter lesion due to dural sinus thrombosis in a infant with subdural hematoma. Pediatr Int 2002; 44: 680–2. Citing Literature Volume14, Issue5September 2008Pages 1117-1121 ReferencesRelatedInformation

Background. This study is a pilot experience aiming to investigate the compliance of an institutional cohort of Italian children treated for a malignant disease and their families in completing the health utilities index2, (HUI2) and the effectiveness of this measured ill terms of their health Status (HS) and health-related quality of life (HRQL). It specifically, it aimed to compare the HS and the HRQL, as expressed by the HUI2 global utility score, in cohorts of patients who had brain tumors, extra-cerebral solid tumors, or leukemia/lymphoma. Procedure. Fifty Survivors of brain tumors, between 8 and 30 years at the time of the assessment ("self") and/or their parents ("proxy"), attending the Pediatric Oncology Out Patient clinic of Padua, Italy, completed the HUI2 questionnaire. Eighty-nine children with acute leukemia/lyrnphoma and 74 with extra-cerebral solid tumors and/or their parents were also assessed. Results. The mean "self" and "proxy" HUI2 global utility scores in the brain tumor patients were 0.87 and 0.84, respectively, while in the cohorts of children with other solid tumors and leukemia/lymphoma, there were 0.94, 0.91, 0.96, and 0.92, respectively. The differences between the HUI2 global utility scores in the "self" and "proxy" assessment within each cohort of children were not statistically significant. In decreasing order of frequency, the attributes affected most commonly were: "emotion," " pain," "sensation," and "cognition" both by "self" and "proxy" assessment. Conclusions. In this Italian population of childhood cancer survivors the HUI2 questionnaire proved to be a user-friendly tool, which provided information regarding HS and HRQL. A larger cohort of cancer children is needed to confirm the efficacy of the HUI2 questionnaire in distinguishing groups of children on this basis by disease category.

Forty-two children born to HIV positive mothers (29 infected at different stages of the disease, according to the Disease Control Classification Centers, and 13 non infected) underwent evaluation using a battery of neuropsychological tests. Executive function impairments were present in all infected children, whereas memory and visuo-prassic deficits were evident only in those with full-blown AIDS. Language abilities and overall intelligence were spared. Performance of seroreverters was in the normal large. These findings suggest that even in neurologically asymptomatic children, neuropsychological evaluation can identify early impairment of specific cognitive functions. The findings are discussed in the light of the prognostic power of neuropsychological assessment for early signs of HIV neurological involvement. (C) 2000 Academic Press.

At the age of 41 and 31 months, respectively, a boy and a girl affected by neurofibromatosis-1 were diagnosed with a visual pathway glioma during surveillance contrast-enhanced head magnetic resonance imaging (MRI). In the first child, the initial MRI showed that the entire optic chiasm, the intracranial tract of the left optic nerve, and hypothalamus were grossly enlarged and enhanced in the post-gadolinium T 1 -weighted images. Ten months later, the hypothalamic component of the lesion had regressed markedly and there were no more areas of contrast enhancement. In the second child, the initial MRI showed that the optic chiasm, the right optic tract, and geniculate body were enlarged and enhanced after gadolinium injection. At 6-month follow-up, the MRI showed that the right optic tract and the anterior aspect of the optic chiasm decreased in size and the contrast enhancement of the entire lesion was reduced dramatically. These findings, as indicated by other similar reports, confirm that spontaneous regression of visual pathway glioma is a rare but real possibility in children with neurofibromatosis-1. Therefore, clinicians need to be aware of visual pathway glioma's erratic behavior in children with neurofibromatosis-1 with special attention given to the importance of a very conservative attitude toward any type of treatment for such patients. (J Child Neurol 1999;14:352-356).

A 7-month-old boy died in a demented state after a clinical history characterized by generalized seizures, psychomotor deterioration, and fumaric aciduria. We found a marked deficiency of both mitochondrial and cytosolic fumarases in skeletal muscle, brain, cerebellum, heart, kidney, liver, and cultured fibroblasts. Fumarase activities were 30 to 50% compared with controls in both mitochondria and cytosol from cultured fibroblasts of the parents. Antifumarase cross-reacting material was present in negligible amounts in the patient's tissues. Our data indicate that this disease is an autosomal recessive encephalopathy, due to a single mutation affecting the gene encoding both forms of the enzyme.

A case of late onset focal epilepsy in a mentally and neurologically normal girl in which the MRI showed a focal heterotopia is presented. The efficacy of this new procedure in detecting migratory disorders is discussed and the scanty literature reviewed. This case suggests that in the future more cases of epilepsy previously classified as "cryptogenetic" will be demonstrated as secondary to developmental abnormalities.