Vanishing White Matter Disease

Vanishing White Matter Disease (VWMD) is one of the most prevalent inherited white matter disorders in childhood, with a large variety in the age of onset and rate of progression. The classical and most common type shows its onset between the ages of 2 and 6 years in children with initially normal motor and mental development. The disease is characterised by progressive neurological deterioration accompanied by cerebellar ataxia, spasticity and mild mental decline. Loss of vision and epilepsy also may occur. Head growth is normal. The course of disease is chronic progressive with additional episodes of rapid deterioration following minor head trauma and febrile infections. Clinical assessment and magnetic resonance (MR) of the brain enable diagnosis. MR shows progressive rarefaction and cystic degeneration of the cerebral white matter. We present the first case of a patient diagnosed with a typical form of VWMD in Croatia, along with his clinical assessment and MR findings. Genetic analysis confirmed him as a compound heterozygote for the two mutations in a gene EIF2B5; c.338G>A/ p.Arg113His and c.1015C>T/ p.Arg339Trp. Gene EIF2B5 encodes a subunit of a protein complex that is essential in mRNA translation initiation. Genetic analysis provides confirmation of the clinically established diagnosis and, more important, allows prenatal counselling.