Our data broaden the clinical spectrum associated with mutations in glycosyltransferases and provide data on their prevalence in the Italian population.

Our findings depict a pattern of demographic, clinical, neuroimaging, and laboratory findings that can help to distinguish, at clinical onset, children suffering from ADEM from those who will develop MS. Childhood-onset MS seems not to differ from adult-onset MS from both clinical and paraclinical features.

We confirm that the common p.A307S mutation in TSEN54 is responsible for most of the patients with a PCH2 phenotype. The presence of a heterozygous in/del variant correlates with a more severe phenotype as PCH4. In addition, we describe a new clinical form of PCH in 2 sibs with clinical and MRI features of PCH2.

related to hypothalamic dysfunction; its main features are emaciation, despite a normal or slightly diminished caloric intake, and an alert appearance. DS has been Leonardo Salviati, M.D. ber 1991 and January 1996, are presented in this article. The children were boys, 2 Division of Diagnostic Imaging, Pediatric Neuroages 6, 7, and 18 months, respectively. Oncology Program of the Department of Pediatrics RESULTS.In all three patients, the initial contrast-enhancing MRIs of the head of the University of Padua, Padua, Italy.showed evidence of tumor dissemination. This finding prompted a study of the 3 Neurobiology Research Unit, Pediatric Neurospine, which in turn showed tumor deposits in all three subjects. Among the 43 Oncology Program of the Department of Pediatpatients younger than 16 years with low grade astroctyoma who consecutively rics of the University of Padua, Padua, Italy.entered the Neuro-Oncology Program during the study period, these 3 patients 4 Division of Pathology, Pediatric Neuro-Oncolwere the only ones who had disseminated tumors. ogy Program of the Department of Pediatrics of CONCLUSIONS. In this study, the hypothesis was formulated that DS and disseminthe University of Padua, Padua, Italy.ated hypothalamic-optic chiasm JPA tend to be more commonly associated than 5 Division of Child Neurology, Pediatric Neuropreviously stated. This study suggests that the initial contrast-enhanced MRI of Oncology Program of the Department of Pediatthe head of a child affected by DS and hypothalamic JPA must be looked at carefully rics of the University of Padua, Padua, Italy.for evidence of tumor dissemination, and that the spine must also be examined cludes old reports of nondiencephalic tumors associated with DS, 1,3 this rare neurologic disease is almost exclusively described in associa-

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 T1-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.

Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher-like disease (PMLD) are hypomyelinating disorders of the central nervous system with a very similar phenotype. PMD is an X-linked disorder caused by mutations in PLP1. PMLD is an autosomal recessive condition caused by mutations in GJA12. We report a 5-year-old girl with a complex neurological syndrome and severe hypomyelination on brain magnetic resonance imaging. She harbored a homozygous 34-bp deletion in the coding region of GJA12. There are no distinctive features for the differential diagnosis of PMD/PMLD. GJA12 should be analyzed in all patients without PLP1 mutations but should also be considered the initial genetic test in women and in patients with consanguineous parents.

No abstract

Pediatric patients with the tuberous sclerosis complex should undergo urological evaluation and followup. Although most of the lesions remain silent during childhood, the incidence of renal involvement increases with age. The need for treatment is highest in females with multiple extrarenal manifestations and bilateral renal involvement.