We report a boy with autism spectrum disorder who showed psychomotor retardation, cephalic white matter lesions on cephalic magnetic resonance imaging (MRI). At the age of 1 year, the gross motor function corresponded to that 8 months after birth. At the age of 1 year and 7 months, independent gait was acquired, but language delay was noted, and cephalic MRI was performed at the same time. Abnormal signal areas were detected in the white matter of the posterior horns of the bilateral lateral ventricles of the brain. Under a tentative diagnosis of adrenoleukodystrophy, detailed examination showed missense variants of the ABCD1 gene and increases in the blood very long chain fatty acid levels. However, a definitive diagnosis was not reached. Subsequently, difficulties in communications or group actions, echolalia, prejudice, stereotypic behavior, and an unbalanced diet became marked. At the age of 3 years and 6 months, a diagnosis of autism spectrum disorder was made. The interpretation of genetic test results and indication of cephalic MRI for children with marked psychomotor retardation remain controversial. However, it may be important to examine patients in consideration of the presence or absence of an underlying disease and review early signs of adrenoleukodystrophy during infancy.

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