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Point Mutation tRNASer(UCN) in a Child With Hearing Loss and Myoclonus Epilepsy

Department of Pediatrics Ospedal San Giovanni Bellinzona, Switzerland, gianpaolo.ramelli{at}eoc.ch

Sabina Gallati, PhD

Division of Human Genetics Department of Pediatrics University of Bern Bern, Switzerland

Joachim Weis, MD

Division of Neuropathology Institute of Pathology University of Bern Bern, Switzerland

Stephan Krähenbühl, MD

Division of Clinical Pharmacology and Toxicology University Hospital Basel, Switzerland

Jean-Marc Burgunder, MD

Department of Neurology University of Bern, Inselspital Bern, Switzerland

We report on a family with a 12-year-old boy who suffered from a maternally inherited syndrome characterized by a combination of sensorineural hearing loss, myoclonus epilepsy, ataxia, severe psychomotor retardation, short stature, and diabetes mellitus. First, he showed a muscular hypotonia with hearing loss; later, he developed a myoclonus epilepsy, growth failure, and severe psychomotor retardation. At the age of 10 years, he developed diabetes mellitus. After initiation of combined ubiquinone and vitamin C treatment, we observed a progression in psychomotor development. Lactate and pyruvate levels in blood and cerebrospinal fluid were normal. No ragged red fibers or ultrastructural abnormalities were seen in a skeletal muscle biopsy. Biochemical assays of respiratory chain complex activities revealed decreased activity of complexes I and IV. By sequence analysis of mitochondrial DNA encoding transfer ribonucleic acids (RNAs), a homoplasmic T to C substitution at nucleotide position 7512 was found affecting a highly conserved base pair in the tRNAser(UCN) acceptor stem. Asymptomatic family members of the maternal line were heteroplasmic for the mutation in blood samples. Analysis of mitochondrial DNA in patients with hearing loss and myoclonus epilepsy is recommended, even in the absence of laboratory findings. Therapeutically, ubiquinone and antioxidants can be beneficial. (J Child Neurol 2006;21:253—255; DOI 10.2310/7010.2006.00047).

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