Josef FINSTERER

8318

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

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

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1. Çavuşoğlu D, Olgaç-Dündar N, Öztekin Ö, Özdemir TR, Arıcan P, Gençpınar P. The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey. Turk J Pediatr 2018; 60: 216-220.

2. van der Knaap MS, van der Voorn P, Barkhof F, et al. A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate. Ann Neurol 2003; 53: 252-258
Turkish Journal of Pediatrics-Cover
  • ISSN: 0041-4301
  • Yayın Aralığı: Yılda 6 Sayı
  • Başlangıç: 1958
  • Yayıncı: Hacettepe Üniversitesi Çocuk Sağlığı Enstitüsü Müdürlüğü
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