Publications by authors named "Mirella Maccarini Peruchi"
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.
View Article and Find Full Text PDFArticle Synopsis
- Phenylketonuria results from mutations in the phenylalanine hydroxylase gene, leading to elevated phenylalanine levels in the blood, which can cause brain damage.
- Treatment involves a strict dietary restriction of phenylalanine, as noncompliance can lead to significant cognitive impairment.
- Even with consistent monitoring and treatment, MRI scans can reveal notable white matter abnormalities in patients, raising questions about the effectiveness of dietary restrictions alone to prevent brain changes.
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.
View Article and Find Full Text PDFPurpose: 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 prefrontal cortex (MPC), primary motor cortex (PMC), thalamus, striatum, posterior cingulate gyrus (PCG), and insular, parietal, and occipital cortices.