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Bilateral symmetrical T2 hyperintense signals in bilateral basal ganglia of 16-year-old female homozygous for L2HGDH c.178G > A (MRI)

T2-weighted MRI in case VI:4 shows diffuse hyperintense signal abnormality in the subcortical white matter and bilateral symmetrical T2 hyperintense signals in bilateral basal ganglia. (Source: Ullah MI, Nasir A, Ahmad A, et al. Identification of novel L2HGDH mutation in a large consanguineous Pakistani family--a case report. BMC Med Genet 2018;19[1]:25. Creative Commons Attribution 4.0 License, https://creativecommons.org/licenses/by/4.0.)

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  • Cardiomyopathy
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  • Dystonia
  • Mental retardation
  • Primary brain tumors
  • Progressive intellectual deterioration
  • Seizures
  • Subcortical leukoencephalopathy