Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL.

@article{Kevelam2016AbsentTC,
  title={Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL.},
  author={Sietske H G Kevelam and F C C Klouwer and Johanna Maria Fock and Gajja Sophi Salomons and Marianna Bugiani and Marjo S. van der Knaap},
  journal={Neuropediatrics},
  year={2016},
  volume={47 1},
  pages={64-7}
}
Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is caused by autosomal recessive EARS2 mutations. Onset is most often in infancy, but in severe cases in the neonatal period. Patients typically have magnetic resonance imaging (MRI) signal abnormalities involving the thalamus, brainstem, and deep cerebral white matter. Most signal abnormalities resolve, but in severe cases at the expense of tissue loss. Here, we report a patient with an encephalopathy of… CONTINUE READING
7 Citations
9 References
Similar Papers

Citations

Publications citing this paper.

References

Publications referenced by this paper.
Showing 1-9 of 9 references

Similar Papers

Loading similar papers…