ISSN:
1432-1459
Keywords:
Early-onset cerebellar ataxia
;
Myoclonus
;
Mitochondrial complex III deficiency
;
Hypogonadotropic hypogonadism
;
31P-MR spectroscopy
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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 complexbc 1 (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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00919592
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