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Changes in the auditory nerve brainstem evoked responses in a case of maple syrup urine disease.
- Source :
-
Developmental medicine and child neurology [Dev Med Child Neurol] 2004 Mar; Vol. 46 (3), pp. 184-6. - Publication Year :
- 2004
-
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 2740 g 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.
- Subjects :
- Acute Disease
Brain Edema diagnosis
Brain Edema physiopathology
Brain Edema therapy
Brain Stem physiopathology
Dominance, Cerebral physiology
Female
Follow-Up Studies
Humans
Infant, Newborn
Maple Syrup Urine Disease diagnosis
Maple Syrup Urine Disease therapy
Neurologic Examination
Respiratory Insufficiency diagnosis
Respiratory Insufficiency physiopathology
Respiratory Insufficiency therapy
Cochlear Nerve physiopathology
Evoked Potentials, Auditory, Brain Stem physiology
Maple Syrup Urine Disease physiopathology
Subjects
Details
- Language :
- English
- ISSN :
- 0012-1622
- Volume :
- 46
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Developmental medicine and child neurology
- Publication Type :
- Academic Journal
- Accession number :
- 14995088
- Full Text :
- https://doi.org/10.1017/s0012162204000325