Mirella Maccarini Peruchi

Magnetic resonance spectroscopy reveals an epileptic network in juvenile myoclonic epilepsy

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.

Are personality traits of juvenile myoclonic epilepsy related to frontal lobe dysfunctions? A proton MRS study

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 dysfunctions among patients with JME who have those traits. In this controlled study we performed a correlation analysis of psychiatric scores with magnetic resonance spectroscopy (MRS) values across JME patients, aiming to verify the existence of a possible relation between frontal lobe dysfunction and the prevalence of personality disorders (PDs) in JME.

Menkes disease as a differential diagnosis of child abuse

Professor and Chairman, Division of Child Neurology / Department of Neurology and Neurosurgery, UNIFESP-EPM.Received 20 October 2008, received in final form 13 January 2009. Accepted 3 April 2009.Dra Juliana Harumi Arita – Disciplina de Neuropediatria / Departamento de Neurologia e Neurocirurgia - Rua Botucatu 720 - 04023-900 Sao Paulo SP - Brasil. E-mail: julyarita@uol.com.br

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.

CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY

Professor and Chairman, Division of Child Neurology / Department of Neurology and Neurosurgery, UNIFESP-EPM.Received 14 September 2007, received in final form 29 November 2007. Accepted 4 February 2008.Dra. Eliete Chiconelli Faria – Rua Jacinto de Lima Santos 263 - 03738-090 Sao Paulo SP - Brasil. E-mail: e.faria@ig.com.br

Self-aggression and congenital clubfoot: additional features to the septo-optic dysplasia complex.

Septo-optic dysplasia (SOD), often referred to as de Morsier syndrome, is a rare, highly heterogeneous condition defined loosely by any combination of the triad of optic nerve hypoplasia (ONH), midline neuroradiological abnormalities (such as agenesis of the corpus callosum and absence of the septum pellucidum) and pituitary hypoplasia with consequent hypopituitarism 1 . The reported incidence of SOD is 1/10,000 live births and affects males and females equally 1 . Clinical features may include various degrees of partial pituitary insufficiency (from panhypopituitarism to isolated GH, ACTH or ADH insufficiency), various intensities of psychomotor retarda tion, mild to severe visual impairment, thermoregulatory disturbances, conjugated hyperbilirubinemia, and seizures 2 . Radiological abnormalities can be equally hetero

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?

Espectroscopia por ressonância magnética de prótons em epilepsia mioclônica juvenil sugere o comprometimento de uma rede neuronal específica

OBJECTIVES: The neuroanatomical basis and the neurochemical abnormalities that underlay juvenile myoclonic epilepsy (JME) are not fully defined. While the thalamus plays a central role in synchronization of widespread regions of the cerebral cortex during a seizure, emerging evidence suggests that all cortical neurons may not be homogeneously involved. The purpose of this study was to investigate the cerebral metabolic differences between patients with JME and normal controls. METHODS: All patients had a JME diagnosis based on seizure history and semiology, EEG recording, normal magnetic resonance neuroimaging (MRI) and video-EEG. Forty JME patients (JME-P) were submitted to 1.5 T MRI proton spectroscopy (1H-MRS), multi-voxel with PRESS sequence (TR/TE = 1500/30 ms) over the following locations: prefrontal cortex (PC), frontal cortex (FC), thalamus, basal nuclei, posterior cingulate gyrus (PCG), insular, parietal and occipital cortices. We determined ratios for integral values of N-acetyl aspartate (NAA) and glutamine-glutamate (GLX) over creatine-phosphocreatine (Cr). The control group (CTL) consisted of 20 age and sex-matched healthy volunteers. RESULTS: Group analysis demonstrated a tendency for lower NAA/Cr ratio of JME-P compared to CTL predominantly on FC, PC, thalamus and occipital cortex. When compared to CTL, JME-P had a statistically significant difference in GLX/Cr on FC, PC, insula, basal nuclei, PCG and on thalamus. When evaluating the relationship among the various components of this epileptic network among JME-P, the strongest correlation occurred between thalamus and PC. Also, we found a significant negative correlation between NAA/Cr and duration of epilepsy. CONCLUSION: Reductions in NAA may represent loss or injury of neurons and/or axons, as well as metabolic dysfunction while glutamate is considered to be an excitatory neurotransmitter in the brain which is involved in the pathogenesis of epileptogenic seizures.