Mitochondrial dysfunction in patients with hypotonia,
epilepsy, autism, and developmental delay: HEADD syndrome.
Fillano JJ, Goldenthal MJ, Rhodes CH, Marin-Garcia J.
Department of Pediatrics, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA.
A group of 12 children clinically presenting with hypotonia, intractable
epilepsy, autism, and developmental delay, who did not fall into previously
described categories of mitochondrial encephalomyopathy, were evaluated for
mitochondrial respiratory enzyme activity levels, mitochondrial DNA, and
mitochondrial structural abnormalities. Reduced levels in specific respiratory
activities were found solely in enzymes with subunits encoded by mitochondrial
DNA in seven of eight biopsied skeletal muscle specimens evaluated. Five cases
exhibited increased levels of large-scale mitochondrial DNA deletions, whereas
pathogenic point mutations previously described in association with
mitochondrial encephalomyopathies were not found. Mitochondrial structural
abnormalities were present in three of four patients examined. Our findings
suggest that mitochondrial dysfunction, including extensive abnormalities in
specific enzyme activities, mitochondrial structure, and mitochondrial DNA
integrity, may be present in children with a clinical constellation including
hypotonia, epileptic seizures, autism, and developmental delay. The acronym
HEADD is presented here to facilitate pursuit of mitochondrial defects in
patients with this clinical constellation after other causes have been excluded.
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