Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C

A. Toscano, M. C. Fazio, G. Vita, S. Cannavó, N. Bresolin, L. Bet, A. Prelle, B. Barbiroli, S. Iotti, P. Zaniol, A. Magaudda, F. Trimarchi, C. Messina

Research output: Contribution to journalArticle

Abstract

A 16-year-old girl presented with early-onset cerebellar ataxia, myoclonus, elevated lactic acidosis and hypogonadotropic hypogonadism. Muscle biopsy specimens revealed fibres with a "ragged" appearance with increased mitochondria and lipid droplets. Biochemical investigation revealed a deficiency of complex bc1 (complex III) of the mitochondrial respiratory chain. Genetic analysis did not show either deletions or known mutations of mitochondrial DNA (mtDNA). Phosphorus magnetic resonance spectroscopy (31P-MRS) showed defective energy metabolism in brain and gastrocnemius muscle. A decreased phosphocreatine (PCr) content was found in the occipital lobes accompanied by normal inorganic phosphate (Pi) and cytosolic pH. These findings represented evidence of a high cytosolic adenosine diphosphate concentration and a relatively high rate of metabolism accompanied by a low phosphorylation potential. Muscle31P-MRS showed a high Pi content at rest, abnormal exercise transfer pattern and a low rate of PCr post-exercise recovery. These findings suggested a deficit of mitochondrial function. Therapy with vitamins K3 and C normalized brain31P-MRS indices, whereas it did not affect muscle bioenergetic metabolism. In this patient, the endocrinological disorder is putatively due to a mitochondrial cytopathy. Although an unknown mtDNA mutation cannot be ruled out, the genetic defect may lie in the nuclear genome.

Original languageEnglish
Pages (from-to)203-209
Number of pages7
JournalJournal of Neurology
Volume242
Issue number4
DOIs
Publication statusPublished - Apr 1995

Keywords

  • P-MR spectroscopy
  • Early-onset cerebellar ataxia
  • Hypogonadotropic hypogonadism
  • Mitochondrial complex III deficiency
  • Myoclonus

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Toscano, A., Fazio, M. C., Vita, G., Cannavó, S., Bresolin, N., Bet, L., Prelle, A., Barbiroli, B., Iotti, S., Zaniol, P., Magaudda, A., Trimarchi, F., & Messina, C. (1995). Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C. Journal of Neurology, 242(4), 203-209. https://doi.org/10.1007/BF00919592