Suggestive presenting features | Leukodystrophy |
---|---|
Visual involvement | |
Optic atrophy | Metachromatic leukodystrophy, Krabbe disease, mitochondrial disorders, Pelizaeus–Merzbacher disease |
Cortical blindness | Krabbe disease |
Retinal degeneration | Krabbe disease, mitochondrial disorders, Cockayne syndrome |
Cataracts | Cerebrotendinous xanthomatosis, mitochondrial disorders |
Abnormal eye movements/nystagmus | Pelizaeus–Merzbacher disease, Pelizaeus–Merzbacher-like disease |
Neurological features | |
Peripheral neuropathy | Metachromatic leukodystrophy (but often not seen in adult onset) |
Cerebrotendinous xanthomatosis | |
Krabbe disease | |
Adult polyglucosan body disease | |
Cerebellar ataxia | Cerebrotendinous xanthomatosis |
Alexander disease | |
Adult polyglucosan body disease | |
Vanishing white matter disease | |
Psychiatric symptoms | Metachromatic leukodystrophy |
Vanishing white matter disease | |
Cerebral adrenoleukodystrophy | |
Hereditary diffuse leukoencephalopathy with axonal spheroids | |
Pyramidal weakness/spasticity | Adrenomyeloneuropathy/adrenoleukodystrophy |
Krabbe disease | |
Cerebrotendinous xanthomatosis | |
Vanishing white matter disease | |
Adult polyglucosan body disease | |
Hereditary diffuse leukoencephalopathy with axonal spheroids | |
Bulbar dysfunction and palatal myoclonus | Adult onset Alexander disease |
Dystonic dyskinetic movement disorder | Glutaricacidemia type 1 |
Autonomic features | Adult onset autosomal dominant leukodystrophy |
Migraine and stroke | CADASIL |
Other features | |
Primary/secondary amenorrhoea | Vanishing white matter disease |
Fractures following minor trauma | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (Nasu–Hokola disease) |
Macrocephaly | Alexander disease, organic acidurias (Canavan disease, glutaricacidemia type 1, L-2-hydroxyglutaric aciduria), megalencephalic leukoencephalopathy with subcortical cysts |
Tendon xanthoma | Cerebrotendinous xanthomatosis |
CADASIL, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.