Mitochondrial DNA deletion in a child with mitochondrial encephalomyopathy, growth hormone deficiency, and hypoparathyroidism.
We report an 11-year-old boy with short stature, bilateral ptosis, sensorineural hearing loss, muscle weakness, and endocrine abnormalities. Brain magnetic resonance imaging (MRI) showed a bilateral abnormal signal in the globus pallidus and in the midbrain tegment. Muscle biopsy specimens showed ragged red and cytochrome c oxidase negative fibers, and biochemical analysis of muscle homogenate showed a partial defect of complex I and IV activities of the respiratory chain enzymes. Analysis of mitochondrial DNA by a polymerase chain reaction screening procedure and Southern blot revealed a novel heteroplasmic single mitochondrial DNA deletion of 7.8 kb in different tissues. This deletion was absent in the blood DNA of his mother and brother. This case further expands and confirms the wide clinical spectrum of mitochondrial disorders associated with single large-scale mitochondrial DNA deletions.
Cassandrini
Denise
D
Neuromuscular Diseases Unit, Department of Pediatrics, University of Genova, Italy.
Savasta
Salvatore
S
Bozzola
Mauro
M
Tessa
Alessandra
A
Pedemonte
Marina
M
Assereto
Stefania
S
Stringara
Silvia
S
Minetti
Carlo
C
Santorelli
Filippo M
FM
Bruno
Claudio
C
D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics*; D017353:Gene Deletion; D005917:Globus Pallidus / Q000473:pathology; D006130:Growth Disorders / Q000150:complications / Q000235:genetics* / Q000473:pathology; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D007011:Hypoparathyroidism / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000150:complications / Q000235:genetics* / Q000473:pathology
D004272:DNA, Mitochondrial; D019382:Human Growth Hormone