Vanishing white matter disease

Vanishing White matter disease

CACH 603869

1. AKA:CACH

2. OMIM:603896

3. Genes/Chromosomes

   1. EIF2B1 2p23.3

   2. EIF2B2 14q24

   3. EIF2B3 12

   4. EIF2B4 1p34.1

   5. EIF2B5 3q27

4. Inheritance

• 1. Appears to be autosomal recessive

5. Neonatal or infant

• 1. Rare

6. Childhood 

• 1. Often normal early childhood

  2. Progressive ataxia and spastic diplegia

  3. Relapsing remitting with deterioration with infection, trauma or fright

7. Early Adult

EIF2B1 2p23.3, EIF2B2 14q24, EIF2B3 12, EIF2B41p34.1, EIF2B5 3q27 Childhood//early adulthood, rarely as neonatal or infant Appears to be autosomal recessive Often normal early childhood. Progressive ataxia and spastic diplegia.Relapsing remitting, deterioration infection, trauma or fright. Bulbar symptoms, optic atrophy, EP. Death in second decade of life//Present in teens or 20s with seizures, psychiatric symptoms, dementia. T1 hypo and T2 hyper diffusely in white matter, Cerebellum may be involved but without cavitation// //neonatal variant: No myelination at term Low T1 high T2 dark FLAIR and PD suggesting impending cavitation Abnormal white matter eventually cavitates( centrifugal progression of cavitation), CSF like signal on T1 and T2 and dark on FLAIR and proton density. No (-) ADC before cavitating (+) ADC after cavitating Initially normal but gradual dissapearance or lowering of normal peaks. NAA low, Cr low but stable. Lactate and glucose might become evdent after other metabolites dissapear. Cortex more normal. Eucaryotic translation initiation factor Related to stress factors, heat or trauma. Axonal loss hypomyelination and demyelination, gliosis, foamy oligodentrocytes in the deep white matter. Ventral and dorsal pons affected. Unknown if primarily axonopathy or oligodendrocytic disease. Glycine elevation in CSF, serum urine