Marie-Odile Rolland

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Canavan disease is a severe, progressive leukodystrophy with an autosomal recessive inheritance, caused by aspartoacylase (ASPA) deficiency. The characteristic MRI features include diffuse, symmetrical white matter degeneration in the subcortical areas, with bilateral involvement of the globus pallidus. Proton magnetic resonance spectroscopy of the brain(More)
We present a 2-year-old boy and a 6-year-old girl with mild Canavan disease (CD). Aspartoacylase activity in skin fibroblasts was deficient. Magnetic resonance imaging (MRI) of the brain did not show the prominent leucodystrophy previously reported in CD, but there was a hyperintense signal from the lentiform nuclei and the heads of the caudate nuclei on(More)
OBJECTIVE To determine whether the devastating outcome of neonatal-onset glycine encephalopathy (NKH) could be improved by instituting treatment immediately at birth rather than after symptoms are already well established. METHODS A newborn with NKH diagnosed prenatally following the neonatal death of a previous affected sibling was treated from birth(More)
A further case of pyruvate carboxylase deficiency, French type, with a particular clinical presentation and evolution is described. The initial neonatal symptoms started with respiratory distress, severe metabolic acidosis and a tendency to hypoglycemia. However, the clinical course was not rapidly deteriorating. At the age of 6 months he presented acute(More)
To illustrate the clinical and biochemical heterogeneity of peroxisomal disorders, we report our experience with 27 patients seen personally between 1982 and 1997. Twenty patients presented with a phenotype corresponding either to Zellweger syndrome, neonatal adrenoleukodystrophy, or infantile Refsum disease, 3 of whom had a peroxisomal disorder due to a(More)
Termination of pregnancy is usually recommended to pregnant women who have infection with Toxoplasma gondii before 26 weeks of pregnancy if the fetus is infected. No prospective studies are available on the outcome if such pregnancies are allowed to continue with anti-parasitic treatment. We prospectively studied 163 mothers with acute toxoplasma infection(More)
Muscle phosphorylase b kinase (PHK) deficiency (glycogenosis type VIII) is a rare disorder caused by mutations in the PHKA1 gene encoding the alpha(M) subunit of PHK. Only 5 patients with molecular defects in the X-linked PHKA1 gene have been described until now, and they all presented with exercise intolerance. Here, we report a patient with a new mutation(More)
Mevalonic aciduria, due to mevalonate kinase deficiency, is the first recognized defect in the biosynthesis of cholesterol and isoprenoids. Very few patients with this disorder have been reported. Three siblings born from consanguineous parents are reported. Several clinical signs were present in all 3 children, including failure-to-thrive, susceptibility(More)
INTRODUCTION The aim of our study was to assess the utility and reliability of magnetic resonance imaging (MRI) in antenatal diagnosis of craniosynostosis. METHODS We retrospectively reviewed the MRI examinations of the head of 15 fetuses requested over a period of 11 years on the basis of sonographic suspicion of craniosynostosis. The postnatal diagnosis(More)
Two cases of spinal cord injury involving the lower cervical region are reported. In both, the delivery of a breech presentation was difficult. Severe hypotonia, areflexia and autonomic nervous system disturbances suggested a spinal cord injury. The evidence, type, and location of the cord lesion were given by nuclear magnetic resonance (NMR).