Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: The presentation of a rare case
Abstract
Characterized by brain stem and spinal cord involvement and elevated lactate level, leukoencephalopathy (LBSL) is a white matter disease that has been newly described on the basis of magnetic resonance imaging (MRI) signs. The clinical signs and symptoms indicate progressive pyramidal, cerebellar, and dorsal column dysfunction. Its laboratory findings are generally non-revealing. There are some typical MRI and magnetic resonance spectroscopy (MRS) signs. We present a 11-year-old boy patient with cerebellar, pyramidal and dorsal column dysfunctions and specific MRI and characteristic MRS findings. MRI and MRS findings were consistent with LBSL. LBSL is a rare leukoencephalopathy. The imaging features are very specific, and radiology has a key role to play in directing the diagnosis and management.
Keywords
Kaynakça
- 1. Scheper GC, van der Klok T, van Andel RJ, et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet 2007; 39: 534- 9.
- 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: 252-8
- 3. Uluc K, Baskan O, Yildirim KA, et al. Leukoencephalopathy with brain stem and spinal cord involvement and high lactate: a genetically proven case with distinct MRI findings. J Neurol Sci 2008; 273: 118-22.
- 4. Serkov SV, Pronin IN, Bykova OV, et al. Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate. Neuropediatrics 2004; 35: 1-5
- 5. Linnankivi T, Lundbom N, Autti T, et al. Five new cases of a recently described leukoencephalopathy with high brain lactate. Neurology 2004; 63: 688-92.
- 6. Steenweg ME, van Berge L, van Berkel CG, et al. Early onset LBSL: how severe does it get? Neuropediatrics 2012; 43: 332-8.
- 7. Kassem H, Wafaie A, Abdelfattah S, Farid. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL): assessment of the involved white matter tracts by MRI. Eur J Radiol. 2014; 83: 191-6.
- 8. Galluzzi P, Sacchini M, Bartalini G, Monti L, Cerase A, Lamatea E, et al. LBSL (leukoencephalopathy with brainstem and spinal cord involvement and high lactate) without sparing the u-fibers and globi pallidi: a case report. EJREX. 2011; 79: 73–6.
Ayrıntılar
Birincil Dil
İngilizce
Konular
Sağlık Kurumları Yönetimi
Bölüm
Olgu Sunumu
Yayımlanma Tarihi
20 Mart 2018
Gönderilme Tarihi
12 Temmuz 2017
Kabul Tarihi
6 Ocak 2018
Yayımlandığı Sayı
Yıl 2018 Cilt: 40 Sayı: 1