Inherited paediatric neurometabolic disorders, can brain magnetic resonance imaging predict?

Abstract

Objectives: To evaluate diagnostic capability of brain magnetic resonance imaging)MRI(in detection of inherited neurometabolic disorders.

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.…”