Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: The presentation of a rare case
Öz
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.
Anahtar Kelimeler
Magnetic resonance imaging leukoencephalopathy spectroscopy spinal cord
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.
- 9. Petzold GC, Bohner G, Klingebiel R, Amberger N, Van der Knaap MS, Zschenderlein R. Adult onset leukoencephalopathy with brain stem and spinal cord involvement and normal lactate. J Neurol Neurosurg Psychiatry 2006; 77: 889–91.
Öz
Beyin sapı ve omurilik tutulumu ve yüksek laktat seviyesi ile karakterize
olan lökoensefalopati (LBSL), manyetik rezonans görüntüleme (MRI) işaretleri
temelinde yeni tanımlanan beyaz cevher hastalığıdır. Klinik bulgular ve
semptomlar ilerleyici piramidal, serebellar ve dorsal kolon işlev bozukluğunu
gösterir. Laboratuvar bulguları genellikle ortaya çıkarılmamaktadır. Bazı tipik
MR ve manyetik rezonans spektroskopisi (MRS) bulguları vardır. Serebellar,
piramidal ve dorsal kolon fonksiyon bozukluğu olan, spesifik MR ve
karakteristik MRS bulguları olan 11 yaşında bir erkek hasta sunuyoruz. MR ve
MRS bulguları LBSL ile uyumlu idi. LBSL, nadir bir lökoensefalopatidir.
Görüntüleme özellikleri çok özeldir ve radyolojinin tanı ve tedaviyi
yönlendirmede önemli bir rolü vardır.
Anahtar Kelimeler
Manyetik rezonans görüntüleme lökoensefalopati spektroskopi spinal kord
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.
- 9. Petzold GC, Bohner G, Klingebiel R, Amberger N, Van der Knaap MS, Zschenderlein R. Adult onset leukoencephalopathy with brain stem and spinal cord involvement and normal lactate. J Neurol Neurosurg Psychiatry 2006; 77: 889–91.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Sağlık Kurumları Yönetimi |
| Bölüm | Case Reports |
| Yazarlar | |
| Yayımlanma Tarihi | 20 Mart 2018 |
| Kabul Tarihi | 6 Ocak 2018 |
| Yayımlandığı Sayı | Yıl 2018Cilt: 40 Sayı: 1 |