Adrenoleukodystrophy (ALD): differential diagnosis

Clinical differentials

• Sitosterolaemia
• Metachromatic leukodystrophy (MLD)
• Neuronal ceroid lipofuscinosis (NCL)
• Krabbe’s disease
• Subacute sclerosing panencephalitis (SSPE)
• Multiple system atrophy (MSA)

Biochemical differentials of raised VCLFAs

Radiological differentials

Differentials of AMN

Acronyms

References

1. van Geel BM, Assies J, Wanders RJ, Barth PG. X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy. JNNP 1997; 63:4-14.
2. Moghadasian MH, Salen G, Frohlich JJ, Scudamore CH. Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations. Arch Neurol 2002; 59:527-529.
3. Ogaki K, Koga S, Aoki N, Lin W, Suzuki K, Ross OA, Dickson DW. Adult-onset cerebello-brainstem dominant form of X-linked adrenoleukodystrophy presenting as multiple system atrophy: case report and literature review. Neuropathology 2016; 36:64-76.
4. Moser HW. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 1997; 120:1485-1508.
5. Mukherjee S, Newby E, Harvey JN. Adrenomyeloneuropathy in patients with `Addison's disease': genetic case analysis. J R Soc Med 2006; 99:245-249.
6. And 2 more. Subscribe to see the full list

Related checklists

• Adrenoleukodystrophy (ALD): genetics and pathology
• Adrenoleukodystrophy (ALD): neurological features
• Adrenoleukodystrophy (ALD): systemic features
• Adrenoleukodystrophy (ALD): investigations
• Adrenoleukodystrophy (ALD): surveillance
• Adrenoleukodystrophy (ALD): treatment