Leukoencephalopathy With Vanishing White Matter - History

History

The first time this disease was documented was in 1962 when Eickle studied a 36 year old woman. Her first symptoms, gait difficulties and secondary amenorrhoea, occurred when she was 31 years old. Throughout the duration of her life, she experienced chronic episodes with extensive deterioration of her brain following minor physical trauma. Upon death, autopsy was performed in which the cerebral white matter displayed dispersed cystic areas. These areas were surrounded by a dense net of oligodendrocytes in which only mild fibrillary astrocytes and scant sudanophilic lipids were found.

As the years progressed, more accounts of similar patients with similar symptoms were documented; however no one classified all the accounts as the same disease. It was not until 1993-94 when Dr. Hanefeld and Dr. Schiffmann and their colleagues identified the disease as childhood-onset progressive leukoencephalopathy. They determined it was autosomal recessive. They too saw that head trauma was a trigger for the onset of VWM. The key factor which allowed them to connect these patients together was the results of the magnetic-resonance spectroscopy in which the normal white matter signals were gone and often replaced with resonances indicative of lactate and glucose. They determined the cause was hypomyelination. It was in 1997-98 when the name vanishing white matter came to be. Dr. van der Knaap and colleagues saw the same characteristics in another set of patients, but these patients also expressed fibrile infections. Dr. van der Knaap used MRI as well as magnetic-resonance spectroscopy and determined that ongoing cystic degeneration of the cerebral white matter and matter rarefaction was more descriptive of the disease rather than hypomyelination and proposed the name vanishing white matter. The name proposed by Dr. Schiffmann in 1994, childhood ataxia with central hypomyelination (CACH) is another commonly accepted name.