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 ra...

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Bibliographic Details
Published in:Journal of child neurology 2006-11, Vol.21 (11), p.983-985
Main Authors: Cassandrini, Denise, Savasta, Salvatore, Bozzola, Mauro, Tessa, Alessandra, Pedemonte, Marina, Assereto, Stefania, Stringara, Silvia, Minetti, Carlo, Santorelli, Filippo M., Bruno, Claudio
Format: Article
Language:English
Subjects:
Child
DNA, Mitochondrial - genetics
Gene Deletion
Globus Pallidus - pathology
Growth Disorders - complications
Growth Disorders - genetics
Growth Disorders - pathology
Human Growth Hormone - deficiency
Humans
Hypoparathyroidism - complications
Hypoparathyroidism - genetics
Hypoparathyroidism - pathology
Magnetic Resonance Imaging
Male
Mitochondrial Encephalomyopathies - complications
Mitochondrial Encephalomyopathies - genetics
Mitochondrial Encephalomyopathies - pathology
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Summary: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).
ISSN:0883-0738
1708-8283
DOI:10.1177/08830738060210111001