Childhood Ataxia With Central Nervous System Hypomyelination: A Report of First Two Cases With Juvenile and Adult - Onset Forms in a Turkish Family

Abstract

Childhood ataxia with central nervous system hypomyelination (CACH)) is an inherited autosomal recessive white matter disease which is also known as leukoencephalopathy with vanishing white matter (VWM). Ataxia and spasticity are the predominant symptoms of the disease. It is a progressive disease with exacerbations. Manyetic resonance imaging (MRI) is diagnostic with diffuse white matter abnormalities. It can be seen at all ages but adult forms are rare. We report here the first two cases of juvenile and adult-onset forms of the disease in Turkey. They are two sisters with age of 21 and 25 who presented us with gait difficulty and spasticity. They had seizures and also the typical MRI findings of CACH. We should consider it in the differential diagnosis of gait difficulty, ataxia and spasticity in adult patients. doi: http://dx.doi.org/10.4021/jnr162w