Publication

Abstract : A seven-year-old boy presented with poor attention span, hyperactivity, and aggression for past one month. There was no history of hearing, vision, speech, and gait disturbances or focal neurological deficits. There was no history of trauma or any similar history in the family. His 4-year-old younger female sibling was apparently healthy and asymptomatic. Generalized hyperpigmentation other than inattention was noticed during examination. Computerized tomography (CT) brain revealed hyperdensities in bilateral parieto-occipital white matter along the trigones of the lateral ventricles with suggestive demyelination in MRI [Figure 1]. With a clinico-radiological possibility of X-linked Adrenoleukodystrophy (X-ALD), the next genetic sequencing confirmed the diagnosis [a hemizygous pathogenic missense variant in exon 9 of the ABCD1 gene (p.Arg660Trp)]. His serum ACTH was 800 pg/ml. Parental testing could not be done due to affordability issues and the parents are not planning for next pregnancy.