01/09/2025
A 7-year-old boy was brought in with progressive difficulty in school performance, visual decline, and darkening of the skin noted over the past year. The mother reported that he had become forgetful, irritable, and clumsy in walking. On examination, the child had generalized hyperpigmentation, especially on the gums and palmar creases, along with spasticity in the lower limbs and impaired visual fields. MRI brain showed demyelinating lesions in the parieto-occipital white matter, confirming X-linked adrenoleukodystrophy. The boy followed by pediatric neurology and endocrinology teams for supportive management, adrenal hormone replacement, and discussion of options like hematopoietic stem cell transplantation. The family was counselled about the genetic nature of the disease and the importance of carrier screening۔
