Adrenoleukodystrophy (ALD): differential diagnosis
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Adrenoleukodystrophy (ALD): differential diagnosis. Sitosterolaemia, Metachromatic leukodystrophy (MLD). Fully referenced neurology checklist.
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
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Radiological differentials
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Differentials of AMN
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Acronyms
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References
- van Geel BM, Assies J, Wanders RJ, Barth PG. X linked adrenoleukodystrophy: clinical presentation, diagnosis, and therapy. JNNP 1997; 63:4-14.
- Moghadasian MH, Salen G, Frohlich JJ, Scudamore CH. Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations. Arch Neurol 2002; 59:527-529.
- 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.
- Moser HW. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain 1997; 120:1485-1508.
- Mukherjee S, Newby E, Harvey JN. Adrenomyeloneuropathy in patients with `Addison's disease': genetic case analysis. J R Soc Med 2006; 99:245-249.
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