Visual Loss as the Only Clinical Manifestation in a Child with X-linked Adrenoleukodystrophy

Abstract

Adrenoleukodystrophy (ALD) is the most common peroxisomal disorder associated with mutations in the ABCD1 gene. Seizures, progressive neurologic deficits, hyperactivity, or learning problems are the most common symptoms in children with X-linked adrenoleukodystrophy (X-ALD). Visual impairment usually appears later in the course of the disease. We present a 5-year-old boy who came to us with visual loss only. His ophthalmologic evaluation revealed no abnormalities and brain MRI findings suggested X-ALD. This case report aimed to show that visual loss may be the initial presentation in ALD. Therefore, a high level of suspicion should be kept in patients with visual impairment as X-ALD affects the cortical regions connected to vision.