[Evaluation of preclinical onset in patients with the childhood form of cerebral adrenoleukodystrophy--usefulness of visual cognitive function and evoked potential tests].

ABSTRACT

We examined both visual evoked potential (VEP) and neuropsychological tests in 18 patients with X-linked adrenoleukodystrophy (ALD). Patients consisted of 10 boys with apparent lesions in the posterior white matter on MR imaging, 3 with lesions in the frontal white matter area and 5 that were neurologically asymptomatic with no apparent brain MRI abnormalities. Almost all patients with posterior WM lesion showed patterns of lower PIQ than VIQ on WISC-III and lower scores on scales for simultaneous processing than for sequential processing on Kaufman Assesment Battery for Children (K-ABC). Four of 5 asymptomatic patients showed PIQ/VIQ patterns similar to those in the posterior group. Patients with a difference more than 13 between PIQ and VIQ also showed poor results on Frostig developmental test of visual perception (DTVP). There was a prolongation of the peak latency of P100 on flash VEP in many patients with posterior whitematter lesions, however, asymptomatic patients did not show any abnormality of P100 latency but there was an increased amplitude of N75-P100 on flash and pattern reversal stimuli VEP. One patient with abnormally high VEP (31.4 microV; + 3.6 SD) gradually improved to the normal range (11.4 microV; 0SD) after hematopoietic stem cell transplantation. These cognitive and neurophysiological examinations could be useful in the detection of preclinical onset of childhood ALD before the appearance of MRI lesions on MRI.