Mirella Maccarini Peruchi

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Division of Child Neurology / Department of Neurology and Neurosurgery / Federal University of São Paulo, São Paulo SP, Brazil (UNIFESP-EPM): Resident, Division of Child Neurology, UNIFESP-EPM; Resident, Department of Radiology, Heliopolis Hospital, Sao Paulo SP, Brazil; Post-Graduate Researcher, Division of Child Neurology / Department of Neurology and(More)
PURPOSE To investigate the cerebral metabolic differences between patients with juvenile myoclonic epilepsy (JME) and normal controls and to evaluate to what extent these metabolic alterations reflect involvement of an epileptic network. METHODS Sixty patients with JME were submitted to multi-voxel proton spectroscopy (1H-MRS) at 1.5 T over medial(More)
PURPOSE Personality traits characterized by emotional instability and immaturity, unsteadiness, lack of discipline, hedonism, frequent and rapid mood changes, and indifference toward one's disease have been associated with patients who have juvenile myoclonic epilepsy (JME). Literature data demonstrate worse seizure control and more psychosocial(More)
Division of Child Neurology / Department of Neurology and Neurosurgery, Federal University of Sao Paulo, Sao Paulo SP, Brazil (UNIFESP-EPM): Resident, Department of Pediatrics, UNIFESP-EPM; Resident, Department of Radiology, Hospital Heliopolis, Sao Paulo SP, Brazil; Resident, Division of Child Neurology / Department of Neurology and Neurosurgery,(More)
Neurocutaneous melanosis is a rare, congenital, non-inherited syndrome characterized by numerous and/or large congenital nevi with intracranial leptomeningeal melanocytosis. This report describes two patients, presenting with a giant congenital nevus involving a major portion of the posterior trunk with satellite congenital nevi scattered all over the body,(More)
Herpes simplex encephalitis is a potentially fatal infection of central nervous system that typically involves frontal and temporal lobes. Occasionally, it presents an extratemporal involvement and in rarer cases, it is limited to the brainstem. We describe a case of an adolescent who presented with fever, sore throat, and vertigo. Clinical picture evolved(More)
Phenylketonuria is caused by mutations in the enzyme phenylalanine hydroxylase gene, that can result in abnormal concentrations of phenylalanine on blood, resulting in metabolites that can cause brain damage. The treatment is based on dietary restriction of phenylalanine, and noncompliance with treatment may result in damage of the brain function. Brain(More)
Krabbe disease (KD) is an autosomal recessive lysosomal storage disorder caused by dysfunctional galactosylceramidase activity. Infantile form is the most common subtype, occurring at about 6-month of age. We present a rare case of infantile KD with magnetic resonance imaging showing white matter, thalamic and basal ganglia lesions rarely associated with an(More)
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