Unusual Magnetic Resonance Imaging Findings in 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency

• References

• 1 Gibson KM, Breuer J, Nyhan WL. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients. Eur J Pediatr 1988; 148 (03) 180-186
• 2 Morató L, Bertini E, Verrigni D. et al. Mitochondrial dysfunction in central nervous system white matter disorders. Glia 2014; 62 (11) 1878-1894
• 3 Roland D, Jissendi-Tchofo P, Briand G. et al. Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients. Mol Genet Metab 2017; 121 (02) 111-118
• 4 van der Lei HD, Steenweg ME, Barkhof F. et al. Characteristics of early MRI in children and adolescents with vanishing white matter. Neuropediatrics 2012; 43 (01) 22-26
• 5 Alagia M, Cappuccio G, Torella A. et al; TUDP. Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder. JIMD Rep 2020; 52 (01) 11-16

• Additional Reading (for Mitochondrial Related Progressive Cavitating Leukodystrophy)

• 1 Hartman TG, Yosovich K, Michaeli HG. et al. Expanding the genotype-phenotype spectrum of ISCA2-related multiple mitochondrial dysfunction syndrome-cavitating leukoencephalopathy and prolonged survival. Neurogenetics 2020; 21 (04) 243-249
• 2 Zhang J, Liu M, Zhang Z. et al. Genotypic spectrum and natural history of cavitating leukoencephalopathies in childhood. Pediatr Neurol 2019; 94: 38-47
• 3 Ishiyama A, Sakai C, Matsushima Y. et al. IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy. Neurol Genet 2017; 3 (05) e184
• 4 Morató L, Bertini E, Verrigni D. et al. Mitochondrial dysfunction in central nervous system white matter disorders. Glia 2014; 62 (11) 1878-1894