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EEG in PhenylketonuriaAttempt to Establish Clinical Importance of EEG Changes
Paul T. Gross, MD;
Stanley Berlow, MD;
Virginia E. Schuett, MD;
Ruggero G. Fariello, MD
Arch Neurol. 1981;38(2):122-126.
Abstract
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• To determine the importance of an abnormal EEG in phenylketonuria (PKU), we reviewed 137 EEGs from 48 patients with PKU. Patients were divided into three groups: group 1 (n = 14) had only normal EEGs, group 2 (n = 20) had only abnormal EEGs, and group 3 (n = 14) initially had normal EEGs that later became abnormal. The most common EEG abnormality was focal paroxysmal discharge. Patients in group 2 started treatment at a later age and had a greater frequency of seizures and mental retardation. Phenylalanine levels greater than 20 mg/dL were more often associated with abnormal EEGs. Older patients were more likely to have abnormal EEGs; 78% of the 41 patients who had EEGs at age 6 or older had abnormal records, whereas only 15% of the 26 patients who had EEGs before the age of 6 had abnormal records. Conventionally treated patients with classic PKU and normal EEGs in infancy may have abnormal EEGs when retested later even though they remain on a restricted diet. Although not usually associated with clinical deterioration, abnormal EEGs may unveil the presence of CNS dysfunction even when a child is in satisfactory clinical condition.
Author Affiliations
From the Department of Neurology (Clinical Neurophysiology) (Drs Gross and Fariello), and the Waismann Center, Department of Pediatrics (Drs Berlow and Schuett), University of Wisconsin Medical School, Madison. Dr Fariello is now with the South Texas Medical Center, University of Texas, San Antonio.
Footnotes
Accepted for publication May 10, 1980.
Reprint requests to Division of Neurology, South Texas Medical Center, University of Texas, 7700 Floyd Curl Dr, San Antonio, TX 78284 (Dr Fariello).
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