KEY FACTS Terminology Group of neurodegenerative disorders characterized by dystonia, parkinsonism, and spasticity Caused by mutations in L-ferritin gene FTL All characterized by abnormal Fe accumulation in basal ganglia – Lewy bodies, axonal swellings, hyperphosphorylated tau in some subtypes Includes…
KEY FACTS Terminology Rare inherited leukoencephalopathy characterized by Rosenthal fibers (eosinophilic intracytoplasmic inclusions) 3 clinical forms Infantile (most common) Juvenile Adult Imaging Infantile: Symmetric ↑ T2 bifrontal white matter (WM) including subcortical U fibers Juvenile/adult: ↑ T2 brainstem (especially medulla),…
KEY FACTS Terminology Progressive autosomal-recessive spongiform leukodystrophy a.k.a. spongy degeneration of infancy Aspartoacyclase deficiency (autosomal recessive) Imaging White matter Involves subcortical U fibers Spares internal capsule and corpus callosum Gray matter Thalami, globi pallidi (GP), ± dentate nuclei Spares caudate,…
KEY FACTS Terminology Abbreviations X-linked adrenoleukodystrophy (X-ALD) Classic childhood ALD (CCALD) Inherited peroxisomal disorder ABCD1 mutation → impaired β-oxidation of very-long-chain fatty acids (VLCFAs) Accumulation of VLCFAs in white matter causes severe inflammatory demyelination Several clinical forms of ALD and…
KEY FACTS Terminology Fabry disease (FD) Imaging NECT Ca++ in lateral pulvinar, globus pallidus, putamen, substantia nigra, dentate nuclei MR may show earlier changes ↑ T1 signal in deep gray nuclei T1 lateral pulvinar hyperintensity considered pathognomonic of FD T2/FLAIR…
KEY FACTS Terminology Lysosomal storage disorder Caused by ↓ arylsulfatase A Results in CNS, PNS demyelination 3 clinical forms Late infantile (most common), juvenile, adult Imaging Best diagnostic clue: Confluent butterfly-shaped ↑ T2 signal in deep cerebral hemispheric white matter…
KEY FACTS Terminology Mucopolysaccharidoses (MPS): 1-9 Group of lysosomal storage disorders Characterized by inability to break down glycosaminoglycans (GAGs) Undegraded GAGs toxic, accumulate in multiple organs Each type of MPS causes accumulation of particular GAG in lysosomes, extracellular matrix 11…
KEY FACTS Terminology Clinical phenotypes associated with single large-scale mtDNA deletions (SLSMDs) Kearns-Sayre syndrome (KSS) Chronic progressive external ophthalmoplegia Pearson syndrome – Multisystem disorder characterized by bone marrow failure, pancreatic insufficiency – Children who survive develop KSS later in life…
KEY FACTS Terminology M itochondrial myopathy, e ncephalopathy, l actic a cidosis, and s troke-like episodes (MELAS) Inherited disorder of intracellular energy production caused by point mutation in mtDNA Imaging Stroke-like cortical lesions crossing vascular territories Posterior location most common…
KEY FACTS Terminology a.k.a. subacute necrotizing encephalomyelopathy Genetically heterogeneous mitochondrial disorder characterized by progressive neurodegeneration Imaging Best imaging: MR with DWI/MRS Bilateral, symmetric ↑ T2/FLAIR corpora striata (putamen > caudate) > globi pallidi, periaqueductal gray matter, substantia nigra/subthalamic nuclei, dorsal…