Adrenoleukodystrophy (ALD)
https://assets.cureus.com/uploads/case_report/pdf/357382/20250621-191599-3in85f.pdf
X-linked adrenoleukodystrophy (ALD) is a rare genetic disorder caused by mutations in the ABCD1 gene. It leads to the build-up of very long-chain fatty acids that damage the brain, spinal cord and adrenal glands (located on top of each kidney). This case report describes 23-year-old identical twin brothers with ALD. Although both twins had the same mutation and similar biological test results and brain MRI scans – white matter intensities in the corpus callosum region and thinning of the spinal cord – their symptoms and age of onset differed. Twin A had more severe symptoms and reported chronic bladder and bowel difficulties, progressive leg stiffness, concentration issues and depression. Twin B developed disabling symptoms 4 years later than his brother – per his report – and experienced milder walking difficulties, bladder problems and emotional stress. Both twins were diagnosed with adrenal insufficiency and started hydrocortisone treatment. They are both clinically and radiologically monitored for cerebral injuries, and their treatment involves medication and physical therapy. Despite identical mutations and comparable brain imaging, the twins showed significant differences in symptom severity. These observations suggest that factors beyond genetics, including the environment and infections, play a key role in how ALD develops. This report also highlights the importance of personalised care and monitoring regardless of mutation similarities.