Vanishing White Matter

VWM is an extremely rare genetic, degenerative, life limiting disease that affects mostly children and young adults. Diagnosis is commonly made between the ages of 2 to 6. Prior to this the child has usually developed normally. This sudden, unexpected, rapid deterioration has a devastating effect on the child and their family. With loss of the ability to walk, further deterioration of motor skills, losing the ability to talk, eat , followed by blindness and deafness leading to eventual death. VWM affects 1 in 40 million, with less than 200 cases noted worldwide, hence the minimal press on the condition.

  • Vanishing White Matter or Childhood Ataxia with Central Nervous System Hypomyelination is inherited in an autosomal recessive manner.

  • Mutation is in one of five genes that are collectively called eIF2B (1,2,3,4,5) or eukaryotic initiation factor 2B. This gene is required to properly make proteins in the body without it we cannot exist.

  • VWM is set apart from other leukodystrophies due to the key characteristic of foamy oligodendrocytes being present.

  • Oligodendrocyte is a type of neuroglia. Their main function is to provide support and insulation to axons in the central nervous system, they create the myelin sheath.

  • Characterised by progressive breakdown and loss of white matter.

  • Deterioration noted to be induced by head trauma, fever and infection. There is also a correlation with stress, highly sensitive as eIF2B plays a central role in stress management.

  • Avoid anesthesia and amino acid starvation and promycin if admitted to hospital as they can have a significant impact on the condition evidence shows.

Diagnosis

Diagnosis is a complicated matter due to lots of potential differential diagnosis. True diagnosis is through MRI scan results and a supportive clinical history. Once this recognition is made the five genes can be tested for the defect to confirm the diagnosis and the exact gene responsible.

Symptoms

  • Neurological deterioration

  • Spasticity

  • Spasms

  • Contractures

  • Stiffness,

  • Movement reduction

  • Lethargy

  • Ovary dysgenesis

  • Cerebellar ataxia

  • Loss of muscle coordination

  • Optic atrophy

  • Seizures

  • Mental impairment (however this is less noticeable as grey matter isn't affected.)

PROGNOSIS

Currently there is no treatment for VWM rather focus on management of symptoms. VWM is naturally progressive with life expectancy commonly being 5 - 10 years from diagnosis. Focus is on reducing the factors which contribute to a faster step down deterioration, including head trauma, fever, and infection

The details..

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