X-Linked Adrenoleukodystrophy (X-ALD)

What this deck covers

X-Linked Adrenoleukodystrophy (X-ALD) in sixteen clinical teaching cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong.

Diagnoses and management options tested

Across the sixteen cases you are asked to choose between options such as: Multiple sclerosis, Metachromatic leukodystrophy, Childhood cerebral ALD (CCALD), Acute disseminated encephalomyelitis, ACTH stimulation test, Brain MRI with gadolinium, ABCD1 gene sequencing, Hyperpigmentation + spastic gait + behavioural regression, Jaundice + hepatomegaly + seizures, Macrocephaly + hypotonia + cherry-red spot, Vitiligo + cerebellar ataxia + optic atrophy, Impaired VLCFA transport into peroxisomes, Defective mitochondrial fatty acid oxidation, Reduced cortisol synthesis in the adrenal medulla, Abnormal myelin basic protein production, Oligodendrocytes and adrenocortical cells, Hepatocytes and skeletal muscle cells, Renal tubular cells and astrocytes, Schwann cells and pancreatic beta cells, Plasma cortisol level, Very long-chain fatty acid ratio (C26:0/C22:0), C26:0-lysophosphatidylcholine (C26:0-LPC), ABCD1 gene mutation panel, Frontal white matter involvement, Cerebellar predominant pattern, Cerebellar and frontopontine combined.

Clinical pearls from this deck

• Childhood cerebral ALD presents at 4–8 years with behavioural change and declining school performance first, then visual loss, seizures and a vegetative state. The MRI signature is symmetric parieto-occipital white matter disease, and 90% already have adrenal insufficiency at diagnosis.
• Adrenal insufficiency is often the first sign of X-ALD. Plasma VLCFA is 100% sensitive in affected males — elevated C26:0 with a raised C26:0/C22:0 ratio is diagnostic.

The sixteen worked cases in this deck, with the images and the full explanation of every option, are part of Pediatric Case Review membership. See what is included.

More from this system: all metabolic and genetic decks and question sets · pediatric reference values.