"Canavan disease: The brainstem is affected. The putamen and caudate nuclei are usually spared, as are the dentate nuclei. No antero-posterior gradient is seen. Markedly elevated NAA on MR spectroscopy."
"Kearns-Sayre syndrome: The brainstem and thalami are affected in most patients. The globus pallidus and caudate nuclei are mineralised on CT."
"L-2-hydroxyglutaric aciduria is inherited in an autosomal recessive fashion. The disease gene L2HGDH was first identified in 2004, and numerous mutations of the gene have since been described 6."
"GE/SWI: no susceptibility artifact"
"MR spectroscopy: decreased NAA and Cho peaks; increase mI; no lactate"
"Canavan disease: The brainstem is affected. The putamen and caudate nuclei are usually spared, as are the dentate nuclei. No antero-posterior gradient is seen. Markedly elevated NAA on MR spectroscopy."
Expected headings
"Signal characteristics"
"Due to the relative rarity of L-2-hydroxyglutaric aciduria, few histological reports of this disease exist. White matter spongiosis, demyelination and cystic degeneration have been described, most pronounced in the subcortical regions 5."
"Lysine levels in urine, plasma and CSF are also usually elevated."
"Definitive diagnosis relies on the identification of L-2-hydroxyglutaric acid in urine, where it is usually massive raised; plasma and CSF levels are also elevated. This needs to be performed in a centre equipped for metabolic investigations as chiral differentiation (i.e. L vs D-isomer) needs to be performed with chromatography for correct diagnosis 5. However, MRI is also useful in this respect as the imaging findings of the two isomers are widely different 1. Prenatal diagnosis is possible by examination of amniotic fluid 3."
"MR spectroscopy: decreased NAA and Cho peaks; increase mI; no lactate"
"MR spectroscopy: decreased NAA and Cho peaks; increase mI; no lactate"
"No specific treatment exists for L-2-hydroxyglutaric aciduria 6; management is mainly supportive as is the case in most leukoencephalopathies. Patients often survive into adulthood."
"L-2-hydroxyglutaric aciduria is a leukoencephalopathy with a consistent and characteristic MRI pattern that should strongly suggest the diagnosis 3,4,6. The MRI changes seen are bilateral and symmetrical, as would be expected from a neurometabolic disorder. There is a centripetal pattern of involvement, with the white matter abnormalities affecting the subcortical U-fibres first, and then progressing to a deeper confluent pattern. Even in the advanced stages, the deep white matter of the periventricular region, corpus callosum and internal capsule remain preserved. An anterior-posterior gradient can also be observed, with the confluency of the white matter in the frontoparietal region first before affecting the rest of the white matter."
"In addition to the white matter changes, grey matter signal changes are seen in the basal ganglia structures, and hence L-2-hydroxyglutaric aciduria is not strictly a ‘leukoencephalopathy’. Basal ganglia involvement appears to be a consistent feature of the disease 3, but this is less prominent than in other organic acidopathies (e.g. glutaric aciduria Type 1, propionic acidaemia, methylmalonic acidaemia)."