title: Peroxisomal bifunctional enzyme deficiency: serial neurophysiological examinations of a case.
abstract: We report on a case of 21-month-old girl with peroxisomal bifunctional enzyme deficiency, which was diagnosed by means of complementation analysis. 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 range at 11 months of age. Later, those velocities gradually decreased. The electrically elicited blink reflex at 3 months of age showed 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 prolonged latencies at 11 months of age and were absent at 15 months of age. The auditory brainstem response (ABR) showed, bilaterally, normal latency of wave I, prolonged interpeak latencies of waves I-V. At 11 months of age, waves III and IV-V of ABR were detected, but their amplitude was very low. At the age of 15 months ABR was absent. These results and the following report are valuable for understanding the pathogenesis of neurological symptoms.
authors.affiliation: Division of Child Neurology, Faculty of Medicine, Tottori University, Yonago, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Akaboshi
authors.forename: Y
authors.initials: Y
authors.lastname: Tomita
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: M
authors.initials: M
authors.lastname: Une
authors.forename: O
authors.initials: O
authors.lastname: Sohma
authors.forename: S
authors.initials: S
authors.lastname: Takashima
authors.forename: K
authors.initials: K
authors.lastname: Takeshita
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D001767:Blinking; D004746:Enoyl-CoA Hydratase / Q000172:deficiency*; D016057:Evoked Potentials, Auditory, Brain Stem; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007535:Isomerases; D009097:Multienzyme Complexes / Q000172:deficiency*; D009422:Nervous System Diseases / Q000201:enzymology / Q000209:etiology* / Q000503:physiopathology; D009460:Neurologic Examination; D063994:Peroxisomal Bifunctional Enzyme; D018901:Peroxisomal Disorders / Q000150:complications* / Q000201:enzymology / Q000503:physiopathology
chemical_list: D009097:Multienzyme Complexes; D015094:3-Hydroxyacyl CoA Dehydrogenases; C576253:EHHADH protein, human; D004746:Enoyl-CoA Hydratase; D063994:Peroxisomal Bifunctional Enzyme; D007535:Isomerases