Barth´s syndrome-like disorder: a new phenotype with a maternally A343G substitution of mitochondrial DNA (MELAS mutation).

DE KREMER R, DODELSON; PASQUINI-CAPRA A,; BACMAN S,; ENRIQUE ARGARAÑA, CARLOS; CIVALLERO G,; KELLY R,; GUELBERT N.,; LATINI A.,; GINER-AYALA A,; DE HALLAK I, NOHER; JONSTON J,; PROVJANSKY R.,; GONZALEZ I,; DEPETRIS-BOLDINI C,; OLLER-RAMIREZ A,; ANGARONI C.,; THEAUX R.,; HLIBA E.,; JUANEDA E,

WILEY-LISS, INC

Año: 2001 vol. 99 p. 83 - 83

n Argentine male child died at 4.5 years of age of a lethal mitochondrial disease associated with a MELAS mutation and a Barth syndrome-like presentation. The child had severe failure to thrive from the early months and for approximately two years thereafter. In addition, the patient had severely delayed gross motor milestones, marked muscle weakness, and dilated cardiomyopathy that progressed to congestive heart failure. He also had persistently elevated urinary levels of 3-methylglutaconic and 2-ethylhydracrylic acids and low blood levels of cholesterol. Detailed histopathologic evaluation of the skeletal muscle biopsy showed high activity of succinate dehydrogenase, a generalized decrease of COX activity, and abundant ragged-red fibers. Electron microscopic studies revealed multiple mitochondrial abnormalities in lymphocytes and monocytes, in the striated muscle, and in the postmortem samples (muscle, heart, liver, and brain). Biochemical analysis showed a pronounced and constant l