The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey.
Turk J Pediatr
; 60(2): 216-220x, 2018.
Article
en En
| MEDLINE
| ID: mdl-30325133
ABSTRACT
Çavusoglu D, Olgaç-Dündar N, Öztekin Ö, Özdemir TR, Arican P, Gençpinar 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. Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is defined as an autosomal recessive inheritance disorder characterized by slowly progressive cerebellar, pyramidal and dorsal column dysfunction. The diagnosis is based on specific magnetic resonance imaging abnormalities (MRI) in the cerebral and cerebellar white matter and selective involvement of white matter tracts in the brain stem and spinal cord. LBSL is caused by mutations in the DARS2 gene which encodes the mitochondrial aspartyl-tRNA synthetase. Herein, we report the first pediatric case from Turkey with a typical MRI course of LBSL associated with a compound heterozygous mutation in DARS2 gene.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Aspartato-ARNt Ligasa
/
Médula Espinal
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Tronco Encefálico
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Ácido Láctico
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Enfermedades Mitocondriales
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Leucoencefalopatías
Límite:
Child
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Humans
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Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Turk J Pediatr
Año:
2018
Tipo del documento:
Article
País de afiliación:
Turquía