PEROXISOMAL BIFUNCTIONAL ENZYME DEFICIENCY - SERIAL NEUROPHYSIOLOGICAL EXAMINATIONS OF A CASE

We report on a case of 21-month-old girl with peroxisomal bifunctional enzyme deficiency, which was diagnosed by means of complementation an alysis. Serial neurophysiological examinations were also-carried out. The motor and sensory nerve conduction velocities of the median nerve showed lower borderline values at 3 months of age and were within norm al range at 11 months of age. Later, those velocities had gradually de creased. The electrically elicited blink reflex at 3 months of age sho wed the prolongation of latencies of R1, R2 and R2' and the interpeak latencies of R1-R2 and R1-R2'. Furthermore, R1, R2 and R2' showed prol onged latencies at 11 months of age and were absent at 15 months of ag e. The auditory brainstem response (ABR) showed, bilaterally, normal l atency of wave I, prolonged interpeak latencies of waves I-V. At 11 mo nths of age, waves III and IV-V of ABR were detected, but their amplit ude was very low. At the age of 15 months ABR was absent. These result s and the following report are valuable for understanding the pathogen esis of neurological symptoms. (C) 1997 Elsevier Science B.V.