References
Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW (2017) The genetics and pathology of mitochondrial disease. J Pathol 241:236–250. https://doi.org/10.1002/path.4809
Jain-Ghai S, Cameron JM, Al Maawali A, Blaser S, MacKay N et al (2013) Complex II deficiency—a case report and review of the literature. Am J Med Genet A 161A:285–294. https://doi.org/10.1002/ajmg.a.35714
Ghezzi D, Goffrini P, Uziel G, Horvath R, Klopstock T et al (2009) SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat Genet 41:654–656. https://doi.org/10.1038/ng.378
Parfait B, Chretien D, Rötig A, Marsac C, Munnich A et al (2000) Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. Hum Genet 106:236–243
Vladutiu GD, Heffner RR (2000) Succinate dehydrogenase deficiency. Arch Pathol Lab Med 124:1755–1758. https://doi.org/10.1043/0003-9985(2000)124<1755:SDD>2.0.CO;2
Poretti A, Wolf NI, Boltshauser E (2015) Differential diagnosis of cerebellar atrophy in childhood: an update. Neuropediatrics 46:359–370. https://doi.org/10.1055/s-0035-1564620
Sakai K, Tada M, Yonemochi Y, Nakajima T, Onodera O et al (2008) Marinesco-Sjögren syndrome with atrophy of the brain stem tegmentum and dysplastic cytoarchitecture in the cerebral cortex. Neuropathology 28:541–546. https://doi.org/10.1111/j.1440-1789.2008.00884.x
Feraco P, Mirabelli-Badenier M, Severino M, Alpigiani MG, Di Rocco M et al (2012) The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a. AJNR Am J Neuroradiol 33:2062–2067. https://doi.org/10.3174/ajnr.A3151
Rose J, Brian C, Woods J, Pappa A, Panayiotidis MI et al (2017) Mitochondrial dysfunction in glial cells: implications for neuronal homeostasis and survival. Toxicology 391:109–115. https://doi.org/10.1016/j.tox.2017.06.011
Trushina E, McMurray CT (2007) Oxidative stress and mitochondrial dysfunction in neurodegenerative diseases. Neuroscience 145:1233–1248. https://doi.org/10.1016/j.neuroscience.2006.10.056
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Tan, A.P., Robles, C. & Mankad, K. Cerebellar atrophy with T2/FLAIR hyperintense cerebellar cortex: a new imaging phenotype of combined complex II/III deficiency. Childs Nerv Syst 34, 601–603 (2018). https://doi.org/10.1007/s00381-018-3762-5
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DOI: https://doi.org/10.1007/s00381-018-3762-5