Skip to main content Accessibility help
×
Home
Hostname: page-component-cf9d5c678-j7tnp Total loading time: 0.133 Render date: 2021-07-29T00:36:38.761Z Has data issue: true Feature Flags: { "shouldUseShareProductTool": true, "shouldUseHypothesis": true, "isUnsiloEnabled": true, "metricsAbstractViews": false, "figures": true, "newCiteModal": false, "newCitedByModal": true, "newEcommerce": true, "newUsageEvents": true }

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.
Get access

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

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Send article to Kindle

To send this article to your Kindle, first ensure no-reply@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about sending to your Kindle. Find out more about sending to your Kindle.

Note you can select to send to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be sent to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

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

Send article to Dropbox

To send this article to your Dropbox account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Dropbox.

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

Send article to Google Drive

To send this article to your Google Drive account, please select one or more formats and confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your <service> account. Find out more about sending content to Google Drive.

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

Reply to: Submit a response

Please enter your response.

Your details

Please enter a valid email address.

Conflicting interests

Do you have any conflicting interests? *