Estudo exploratório dos casos de esclerose múltipla registrados em Florianópolis, Santa Catarina, no período de janeiro de 1990 a janeiro de 2005.

Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina. Departamento de Clínica Médica

Leucoencefalopatia cística sem megalencefalia

UNIFESP-EPM Department of PediatricsFederal University of São Paulo Department of Neurology and Neurosurgery Division of Child NeurologyHospital Heliopolis Department of RadiologyFederal University of São Paulo EPM Department of Neurology and NeurosurgeryUNIFESP, EPM, Department of PediatricsUNIFESP, Department of Neurology and Neurosurgery Division of Child NeurologyUNIFESP, EPM, Department of Neurology and NeurosurgerySciEL

Doença de Menkes como diagnóstico diferencial de abuso de criança

Federal University of São Paulo EPM Division of Child NeurologyHeliopolis Hospital Department of RadiologyUNIFESP, EPM, Division of Child NeurologySciEL

Herpes Simplex Type 1 Encephalitis Restricted to the Brainstem in a Pediatric Patient

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 to lethargy, tetraparesis, consciousness impairment, and respiratory failure. MRI showed lesions restricted to the brainstem. PCR of CSF was positive for herpes simplex type 1

Optic nerve enlargement in infantile form of Krabbe disease

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 enlargement of the optic nerves bilaterally

Neuroradiological Findings of an Adolescent with Early Treated Phenylketonuria: Is Phenylalanine Restriction Enough?

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 abnormalities can be seen on magnetic resonance imaging of these individuals. Studies indicate that the appearance of abnormalities in white matter reflects high levels of phenylalanine on the blood. This case will show the clinical and neuroradiological aspects of a teenager with constant control of phenylalanine levels. Despite the continuous monitoring and early treatment, the magnetic resonance imaging identified impressive abnormalities in the white matter. This leads us to one question: is the restriction of phenylalanine sufficient to prevent changes in the white matter in patients with phenylketonuria