Leukoencephalopathy with bilateral anterior temporal lobe cysts

Evidence-based neurology checklist on leukoencephalopathy with bilateral anterior temporal lobe cysts: Genetics This is caused by mutations of the RMND1 gene RMND1 is an inner mitochondrial membrane protein Neurological features Systemic features Magnetic resonance imaging (MRI) brain: features…

Genetics

  • This is caused by mutations of the RMND1 gene
  • RMND1 is an inner mitochondrial membrane protein

Neurological features

Systemic features

Magnetic resonance imaging (MRI) brain: features

Magnetic resonance spectroscopy (MRS): features

Differential diagnosis of anterior temporal lobe cysts

References

  1. Ulrick N, Goldstein A, Simons C, et al. RMND1-related leukoencephalopathy with temporal lobe cysts and hearing loss-another mendelian mimicker of congenital cytomegalovirus infection. Pediatr Neurol 2017; 66:59-62.
  2. Janer A, van Karnebeek CD, Sasarman F, et al. RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement. Eur J Hum Genet 2015; 23:1301-1307.
  3. Gomes AL, Vieira JP, Saldanha J. Non-progressive leukoencephalopathy with bilateral temporal cysts. Eur J Paediatr Neurol 2001; 5:121-125.
  4. Gupta A, Colmenero I, Ragge NK, et al. Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report. BMC Res Notes 2016; 9:325.
  5. Ng YS, Alston CL, Diodato D, et al. The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. J Med Genet 2016; 53:768-775.
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