Test Details

Vanishing white matter disease (VWM) is one of the most prevalent inherited childhood leukoencephalopathies, also named Childhood Ataxia with Central Nervous System Hypomyelination/ Vanishing White Matter disease (CACH/VWM).

The disorder is characterized by ataxia, spasticity, and variable optic atrophy. The phenotypic range includes a prenatal/congenital form, a subacute infantile form (onset age <1 year), an early childhood onset form (onset age 1-5 years), a late childhood/ juvenile onset form (onset age 5-15 years), and an adult onset form.

The prenatal/congenital form is characterized by severe encephalopathy. In the later onset forms, initial motor and intellectual development is normal or mildly delayed followed by neurologic deterioration with a chronic progressive or subacute course. Chronic progressive decline can be exacerbated by rapid deterioration during febrile illnesses or following head trauma or major surgical procedures, or by acute psychological stresses such as extreme fright.

The classical phenotype is characterized by early childhood onset of chronic neurological deterioration, dominated by cerebellar ataxia. VWM is unusual because of its clinically evident sensitivity to febrile infections, minor head trauma, and acute fright, which may cause rapid neurological deterioration and unexplained coma. Most patients die a few years after onset.

• Vanishing White Matter, Dysmyelinating, and Hypomyelinating Leukodystrophy

• Muscle
• Cultured Fibroblasts
• Whole Blood - EDTA
• Extracted DNA - Leukocytes
• Buccal Cells