Dementia with Impaired Temporal Glucose Metabolism in Late-Onset Metachromatic Leukodystrophy

Abstract

An unusual case of very-late-onset metachromatic leukodystrophy (MLD) with dementia was studied. The patient was a 41-year-old male who presented with mild dementia and a single generalized tonic clonic seizure. Neuropsychological assessment demonstrated mild amnesia, visuospatial dysfunction and attention deficits with a slow psychomotor speed. MR brain imaging displayed confluent hyperintensities of periventricular and subcortical white matter. Low levels of arylsulfatase A confirmed the diagnosis. Impaired cortical glucose metabolism especially of the medial temporal and frontal cortices was observed using positron emission tomography and fluor-18-labeled fluorodesoxyglucose. The neuropsychological deficits are related to the location of deficits in glucose metabolism.

Adult-Type Metachromatic Leukodystrophy Mimicking Multiple Sclerosis

“…The disorder has different clinical presentations depending on the age at onset. Most patients with adult-type MLD present psychiatric symptoms and a schizophrenia-like condition 2,3 . More recent reports indicate that dementia together with pure neurological symptoms are also prominent [3][4][5] .…”

Glucose metabolism in the brain in LMNB1-related autosomal dominant leukodystrophy

“…[22][23][24][25][26][27][28][29][30][31] Seventeen of these patients had X-linked adrenoleukodystrophy (X-ALD), including adrenomyeloneuropathy (AMN). [22][23][24][25][26][27][28][29][30][31] Seventeen of these patients had X-linked adrenoleukodystrophy (X-ALD), including adrenomyeloneuropathy (AMN).…”

“…Previously, 10 studies or case reports describing FDG-PET findings in a total of 21 patients with leukodystrophies have been reported. [22][23][24][25][26][27][28][29][30][31] Seventeen of these patients had X-linked adrenoleukodystrophy (X-ALD), including adrenomyeloneuropathy (AMN). As glucose metabolism is physiologically much higher in grey than in white matter, metabolic changes on FDG-PET could be mainly found in grey matter, whereas abnormal FDG uptake in white matter was only described in three of those 21 patients.…”

Adult Metachromatic Leukodystrophy with Hebephrenic Schizophrenia-like Symptoms: A Case Report

“…[4] Progressive neurocognitive deterioration has also been seen. [5,6] Replacement therapy can be a most promising therapeutic option for MLD, considering its etiopathogenesis. There is an ongoing clinical research to study HGT-1110 intrathecal enzyme replacement therapy.…”