Neurometabolic Diseases in Children: Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy Features

Abstract

Background: Neurometabolic diseases are a group of diseases secondary to disorders in different metabolic pathways, which lead to white and/or gray matter of the brain involvement. </P><P> Discussion: Neurometabolic disorders are divided in two groups as dysmyelinating and demyelinating diseases. Because of wide spectrum of these disorders, there are many different classifications of neurometabolic diseases. We used the classification according to brain involvement areas. In radiological evaluation, MRI provides useful information for these disseases. Conclusion: Magnetic Resonance Spectroscopy (MRS) provides additional metabolic information for diagnosis and follow ups in childhood with neurometabolic diseases.

Hallazgos neuro-estrabismológicos en una paciente con Síndrome de Kabuki

“…Este hallazgo sugiere que la corteza cerebral cuando está afectada puede perder el control de este reflejo. Es plausible afirmar entonces, que la prevalencia del reflejo constrictor sobre el dilatador indica una diferencia filogénica, en donde el reflejo constrictor es más elaborado y delicado que el dilatador, así, las alteraciones corticales encontradas en la paciente, junto con la evidente anisocoria fortalecen la tesis que cuando el integrador central falla, los reflejos oculomotores se exacerban tal y como propone el neuroestrabismo 15 .…”

Use of Thalamus L-Sign to Differentiate Periventricular Leukomalacia From Neurometabolic Disorders

“…17,18 Neurometabolic disorders are another common cause of cerebral white matter injury in children, and MRI is the preferred imaging modality for diagnosis. [19][20][21][22] MRI findings may aid in the diagnosis of a variety of neurometabolic disorders and can facilitate early treatment management prior to the arrival of time-consuming metabolic, biochemical, and genetic testing. 22,23 Numerous neurometabolic disorders and periventricular leukomalacia are characterized by periventricular white matter hyperintensities and may exhibit similar MRI findings.…”

“…In uncertain cases, differential diagnosis can therefore be difficult. 16,[19][20][21] The purpose of this study was to investigate posterolateral thalamic injury (thalamus L-sign) in children with periventricular leukomalacia and neurometabolic disorders and to assess the possibility of using it as a biomarker to differentiate each group in MRI. On T2-weighted imaging and fluid-attenuated inversion recovery sequences, we noticed hyperintensity in the posterolateral margin of the thalami in patients with periventricular leukomalacia.…”

Doenças neurometabólicas hereditárias e a importância das classificações baseadas em achados de imagem

“…As doenças neurometabólicas hereditárias (DNMHs) representam um heterogêneo grupo de doenças que englobam os chamados erros inatos do metabolismo, as leucodistrofias, as mitocondriopatias, as doenças de depósito, entre outras (1) . São doenças individualmente raras, mas que em seu conjunto representam uma proporção significativa das doenças neurológicas em crianças (1,2) . Os achados clínicos e de imagem podem ser inespecíficos e se sobreporem, tornando o diagnóstico ainda mais desafiador.…”