Leukoencephalopathy With Brain Stem and Spinal Cord Involvement and Lactate Elevation (LBSL) A Case With Long-term Follow-up

Yazici Gencdal I., DİNÇER A., Obuz O., Yapici Z.

NEUROLOGIST, cilt.25, sa.5, ss.144-147, 2020 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 25 Sayı: 5
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1097/nrl.0000000000000286
  • Dergi Adı: NEUROLOGIST
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.144-147
  • Anahtar Kelimeler: LBSL, leukoencephalopathy, lactate, MRI
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Evet

Özet

Introduction: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is caused by a recessive mutation in the DARS2 gene and can be recognized by specific magnetic resonance imaging patterns. Case Report: A girl who developed leg tremors at age 4 years was diagnosed at age 17 years with LBSL -after evolution of ataxia and sensory loss. Examination at age 29 revealed mild spastic gait, ataxia, and sensory loss, and she did not require assistance to walk. Conclusion: This report illustrates the clinical and magnetic resonance imaging characteristics of a slowly progressive long-term course of childhood-onset LBSL.