Clinical Features

Leukodystrophies affect chiefly infants and young children but may occur to adulthood. Common age-related clinical manifestations are:

• In neonates and early infancy, lack of psychomotor development, listlessness, failure to thrive, and hypo-tonia changing to hypertonia

table 9.5.

Etiologies of Leukodystrophies

Lysosomal enzyme deficiencies

Peroxisomal enzyme

Metachromatic

deficiencies

leukodystrophy

Adrenoleukodystrophies

Multiple sulfatase deficiency

neonatal childhood,

Globoid cell leukodystrophy

juvenile, adult

Myelin synthesis deficiency

Aspartoacylase

Pelizaeus-Merzbacher

deficiency

disease

Canavan's disease

Mutation in GFAP gene

Alexander's disease

• In late infancy, motor difficulties and mental regression

• In juveniles, behavioral changes, declining school performance, gradual loss of motor functions, loss of language and acquired mental skills progressing to dementia and eventually to a vegetative state

• In adults, behavioral changes, cognitive decline, and dementia

Visual impairment with optic atrophy and, less frequently, seizures may develop at any age.

MRI is essential to demonstrate white matter abnormalities. Other diagnostic tests include enzymatic studies and biopsies to demonstrate deposits of abnormal metabolites in cultured skin fibroblasts, sural nerve, or liver. Prenatal diagnosis rests on enzyme studies of amniocytes or chorionic villi.

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