Synonyms:
Leucodystrophy, leukodystrophies
Introduction:
This is a group of various disorders of abnormal white matter myelination. They are often referred to as dysmyelinating disorders.
Types:
- Adrenoleukodystrophy and adrenomyeloneuropathy
- Metachromatic leukodystrophy MLD a.k.a. arylsulfatase A deficiency
- Krabbe disease (Globoid Cell Leukodystrophy) a.k.a. galactocerebroside b-galactosidase deficiency
- Alexander disease
- Canavan disease a.k.a. spongiform degeneration a.k.a. N-acetylaspartatoacylase deficiency
- Sudanophilic leukodystrophy
- Pelizaeus-Merzbacher disease PMD
- Pelizaeus-Merzbacher-like disease
- Vanishing White Matter disease VWM a.k.a. leukoencephalopathy with vanishing white matter a.k.a. childhood ataxia and cerebral hypomyelination CACH
- Megalencephalic leukodystrophy with subcortical cysts
- Zellweger syndrome a.k.a. cerebro-hepato-renal syndrome
- Refsum disease a.k.a. hereditary ataxic neuropathy a.k.a. phytanic acid storage disease a.k.a. hereditary motor sensory neuropathy type IV a.k.a. heredopathia atactica polyneuritiformis
- Cerebrotendinous xanthomatosis CTX
- Leukoencephalopathy with Brainstem and Spinal Cord Involvement, aspartyl-tRNA synthetase 2 (DARS2) mutation.
- Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (CSF1R gene mutation).
- Leukoencephalopathy with Calcifications and Cysts (SNORD118 gene mutation).
- Sjögren-Larsson Syndrome (AL-DH3A2 mutation)
- L-2-hydroxyglutaric aciduria
- Adult-onset Autosomal Dominant Leukodystrophy (Lamin B1, LMNB1 gene mutation).
- Fragile X–associated Tremor and/or Ataxia Syndrome FXTAS.
- CADASIL.
- Nasu-Hakola disease (Polycystic lipomem-branous osteodysplasia with sclerosing leukoen-cephalopathy),
Approach by MRI pattern:
Parieto-occipital pattern:
- Adrenoleukodystrophy and adrenomyeloneuropathy
- Krabbe disease (Globoid Cell Leukodystrophy) a.k.a. galactocerebroside b-galactosidase deficiency
Frontal pattern:
- Adrenoleukodystrophy and adrenomyeloneuropathy
- Metachromatic leukodystrophy MLD a.k.a. arylsulfatase A deficiency
- Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (CSF1R mutation).
Periventricular pattern:
- Metachromatic leukodystrophy MLD a.k.a. arylsulfatase A deficiency
- Krabbe disease (Globoid Cell Leukodystrophy) a.k.a. galactocerebroside b-galactosidase deficiency
- Leukoencephalopathy with Brainstem and Spinal Cord Involvement, aspartyl-tRNA synthetase 2 (DARS2) mutation.
- Sjögren-Larsson Syndrome (AL-DH3A2 mutation)
Subcortical Pattern
- L-2-hydroxyglutaric aciduria
Brainstem involvement:
- Alexander disease
- Leukoencephalopathy with Brainstem and Spinal Cord Involvement, aspartyl-tRNA synthetase 2 (DARS2) mutation.
- Adult-onset Autosomal Dominant Leukodystrophy (Lamin B1, LMNB1 gene mutation).
Cerebellar involvement:
- Cerebrotendinous xanthomatosis CTX
- Alexander disease
- Leukoencephalopathy with Brainstem and Spinal Cord Involvement, aspartyl-tRNA synthetase 2 (DARS2) mutation.
- Adult-onset Autosomal Dominant Leukodystrophy (Lamin B1, LMNB1 gene mutation).
- L-2-Hydroxyglutaric Aciduria.
- Fragile X–associated Tremor and/or Ataxia Syndrome FXTAS.
Spinal cord involvement:
- Adult-onset Autosomal Dominant Leukodystrophy (Lamin B1, LMNB1 gene mutation).
- Alexander disease
- Leukoencephalopathy with Brainstem and Spinal Cord Involvement, aspartyl-tRNA synthetase 2 (DARS2) mutation.
Abnormal peak on MR Spectroscopy:
- Increased Lipid peaks:
- Sjögren-Larsson Syndrome (AL-DH3A2 mutation),
- Cerebrotendinous xanthomatosis CTX
- Increased Lactate peak:
- Decreased N-acetyl aspartate peak: