Headache, cataract, and unilateral visual loss: unusual features of DARS2 variants in LBSL

Özet

Dear Editor, With interest we read the article by Cavusoglu et al.1 about a 12 year old male with bilateral congenital cataract, right-sided visual loss, recurrent frontal headache since age 9, paraspasticity, T2-hyperintensities of the corporis and genu callosum, posterior limb of internal capsule, inferior cerebellar peduncles, and mesencephalic portion of nucleus-V.1 Spinal magnetic resonance imaging (MRI) revealed T2-hyperintensities of the corticospinal tract, the spinocerebellar tracts, and the dorsal columns.1 Magnetic resonance spectroscopy (MRS) revealed a lactate peak.1 Based on these findings leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) was suspected and confirmed by documentation of the variant c.455G>T (p.C152F) (p.Cys152Phe)/c.228- 21_228-20delTTinsC in DARS2. 1