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Changes in the auditory nerve brainstem evoked responses in a case of maple syrup urine disease

Published online by Cambridge University Press:  04 March 2004

Miriam Geal-Dor
Affiliation:
Speech and Hearing Center, Hadassah University Hospital, Jerusalem, Israel.
Cahtia Adelman
Affiliation:
Speech and Hearing Center, Hadassah University Hospital, Jerusalem, Israel.
Haya Levi
Affiliation:
Speech and Hearing Center, Hadassah University Hospital, Jerusalem, Israel.
Kalman Goitein
Affiliation:
Pediatric Intensive Care Unit, Hadassah University Hospital, Jerusalem, Israel.
Haim Sohmer
Affiliation:
Department of Physiology, Hebrew University Hadassah Medical School, Jerusalem, Israel.
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Abstract

Maple syrup urine disease (MSUD) is a rare metabolic disease due to deficiency in the enzyme that breaks down branched chain amino acids. Lack of the enzyme causes accumulation of these amino acids and, if untreated, causes severe neurological damage. A case study of a 10-day old female infant, born after 40 weeks' gestation with a birthweight of 2740g with MSUD hospitalized in the acute stage with respiratory failure and severe brain oedema is described. As part of the neurological evaluation, auditory nerve brainstem evoked response testing was conducted and revealed bilateral presence of the first wave from the auditory nerve, with no later brainstem waves. Over the course of days when her condition improved following dialysis treatment and a diet to reach balanced levels of branched chain amino acids, the later brainstem waves appeared on one side, and several weeks later they were also observed on the other side. The possible mechanisms of the reversibility of the appearance of brainstem waves in this case are discussed.

Type
Case Report
Copyright
© 2004 Mac Keith Press

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