Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) in a two-year-old Filipino child
- Author:
Abacan Mary Ann R.
;
Chiong Mary Anne D.
- Publication Type:Case Reports
- MeSH:
Human;
Female;
Child Preschool;
MELAS SYNDROME;
MUSCULOSKELETAL DISEASES;
MUSCULAR DISEASES;
MITOCHONDRIAL MYOPATHIES;
MITOCHONDRIAL ENCEPHALOMYOPATHIES
- From:
Acta Medica Philippina
2011;45(4):88-92
- CountryPhilippines
- Language:English
-
Abstract:
MELAS is a mitochondrial respiratory chain disorder characterized by progressive neurodegeneration associated with stroke-like episode, increased plasma lactate levels and distinctive findings on neuroimaging studies. Hence we onset of right-sided hemiplegia accompanied by lactic acidosis and CT-Scan findings of diffuse hypodensity of the cerebral white matter at the time of the stroke-like episode. The diagnosis was confirmed by mutation analysis on blood and hair which showed the typical mtDNA A3243G mutation. This is the first local report of a confirmed case of MELAS.
