Longitudinal Study of Auditory Brainstem Response in Leigh Syndrome

Abstract

To assess the utility of auditory brainstem response (ABR) in diagnosing brainstem changes in patients with Leigh syndrome (LS), we performed a longitudinal study of five patients with LS using both ABR and neuroimaging techniques (CT and MRI).

The brainstem components of the initial ABRs we performed on the patients were abnormal in all five patients. In four of the patients, these abnormal findings preceded any clinical signs of brainstem impairment. Improvements in clinical findings were reflected in improvements in ABR findings in three patients. In one of these three patients, improvements in clinical findings were also reflected in improvements in MRI findings. In the other two patients, MRI findings showed no improvements, despite the improvements in clinical findings.

In two of our patients, ABR clearly revealed functional improvements in the brainstem which were not revealed by MRI. Therefore, we conclude that ABR is an essential diagnostic technique for patients with LS.

Key words

Leigh syndrome - ABR - MRI - DCA - PLEDs

References

• 1 Davis S L, Aminoff M J, Berg B O. Brain-stem auditory evoked potentials in children with brain-stem or cerebellar dysfunction.  Arch Neurol. 1985;  42 156-160
• 2 Kaga M, Naitoh H, Nihei K. Auditory brainstem response in Leigh's syndrome.  Acta Paediatr Jpn. 1987;  29 254-260
• 3 Kimura S, Ohtuki N, Nezu A, Tanaka M, Takeshita S. Clinical and radiologic improvements in mitochondrial encephalomyelopathy following sodium dichloroacetate therapy.  Brain Dev. 1997;  19 535-540
• 4 Leff A P, McNabb A W, Hanna M G, Clarke C RA, Larner A J. Complex partial status epilepticus in late-onset MELAS.  Epilepsia. 1998;  39 438-441
• 5 Pincus J H. Subacute necrotizing encephalomyelopathy (Leigh's Disease): a consideration of clinical features and etiology.  Devlop Med Child Neurol. 1972;  14 87-101
• 6 Rahman S, Blok R B, Dahl H HM, Danks D M, Kirby D M, Chow C W. et al . Leigh syndrome: Clinical features and biochemical and DNA abnormalities.  Ann Neuol. 1996;  39 343-351
• 7 Schwartz M S, Prior P F, Scott D F. The occurrence and evolution in the EEG of a lateralized periodic phenomenon.  Brain. 1973;  96 613-622
• 8 Taylor M J, Houston B D, Lowry N J. Recovery of auditory brainstem responses after a severe hypoxic ischemic insult.  N Eng J Med. 1983;  309 1169-1170
• 9 Taylor M J, Robinson B H. Evoked potentials in children with oxidative metabolic defects leading to Leigh syndrome.  Pediatr Neurol. 1992;  8 25-29
• 10 Valanne L, Ketonen L, Majander A, Suomalainen A, Pihko H. Neuroradiologic findings in children with mitochondrial disorders.  AJNR. 1998;  19 369-377
• 11 Yoshinaga H, Ogino T, Ohtahara S, Sakuta R, Nonaka I, Horai S. A T-to-G mutation at nucleotide pair 8993 in mitochondrial DNA in a patient with Leigh's syndrome.  J Child Neurol. 1993;  8 129-133