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Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate.
- Source :
-
Neuropediatrics [Neuropediatrics] 2017 Apr; Vol. 48 (2), pp. 108-110. Date of Electronic Publication: 2016 Nov 22. - Publication Year :
- 2017
-
Abstract
- Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) is a recently described autosomal recessive mitochondrial disease characterized by early onset of neurological symptoms, a biphasic clinical course, and distinctive neuroimaging. Pathogenic variants in the EARS2 gene that encode for mitochondrial glutamyl-tRNA synthetase are responsible for LTBL. Here, we describe the clinical course of an infant diagnosed with an acute crisis of LTBL and severe liver disease. This article illustrates the utility of blood lactate quantification in addition to basic metabolic testing and brain imaging in a child with low tone and poor growth. In addition, this case demonstrates the utility of current genetic diagnostic testing, in lieu of more invasive procedures, in obtaining rapid answers in this very complicated group of disorders.<br /> (Georg Thieme Verlag KG Stuttgart · New York.)
- Subjects :
- Acidosis complications
Acidosis therapy
Diagnosis, Differential
Glutamate-tRNA Ligase genetics
Humans
Infant
Leukoencephalopathies complications
Leukoencephalopathies therapy
Liver Diseases blood
Liver Diseases complications
Liver Diseases diagnostic imaging
Liver Diseases therapy
Male
Mitochondrial Diseases complications
Mitochondrial Diseases therapy
Acidosis diagnosis
Brain Stem diagnostic imaging
Lactic Acid blood
Leukoencephalopathies diagnosis
Mitochondrial Diseases diagnosis
Thalamus diagnostic imaging
Subjects
Details
- Language :
- English
- ISSN :
- 1439-1899
- Volume :
- 48
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Neuropediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 27875839
- Full Text :
- https://doi.org/10.1055/s-0036-1593984