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Mitochondrial DNA Deletion in a Child With Mitochondrial Encephalomyopathy, Growth Hormone Deficiency, and Hypoparathyroidism

Neuromuscular Diseases Unit Department of Pediatrics University of Genova Istituto "Giannina Gaslini'' Genova, Italy

Salvatore Savasta, MD

Department of Pediatrics Science Policlinico San Matteo University of Pavia Pavia, Italy

Mauro Bozzola, MD

Department of Pediatrics Science Policlinico San Matteo University of Pavia Pavia, Italy

Alessandra Tessa, PhD

Molecular Medicine Unit Ospedale Bambino Gesù Rome, Italy

Marina Pedemonte, MD

Neuromuscular Diseases Unit Department of Pediatrics University of Genova Istituto "Giannina Gaslini'' Genova, Italy

Stefania Assereto, MS

Neuromuscular Diseases Unit Department of Pediatrics University of Genova Istituto "Giannina Gaslini'' Genova, Italy

Silvia Stringara, MS

Neuromuscular Diseases Unit Department of Pediatrics University of Genova Istituto "Giannina Gaslini'' Genova, Italy

Carlo Minetti, MD

Neuromuscular Diseases Unit Department of Pediatrics University of Genova Istituto "Giannina Gaslini'' Genova, Italy

Filippo M. Santorelli, MD

Molecular Medicine Unit Ospedale Bambino Gesù Rome, Italy

Claudio Bruno, MD

Neuromuscular Diseases Unit Department of Pediatrics University of Genova Istituto "Giannina Gaslini'' Genova, Italy, claudiobruno{at}ospedale-gaslini.ge.it.

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. (J Child Neurol 2006;21:983—985; DOI 10.2310/7010.2006.00218).

Journal of Child Neurology, Vol. 21, No. 11, 983-985 (2006)
DOI: 10.1177/08830738060210111001


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