Heterozygous cerebral leukodystrophy is the most common type of disease in the category of cerebral leukodystrophy. It is caused by a deficiency of aryl sulfate esterase A activity, resulting in the deposition of cerebral sulfolipids in the body, leading to extensive demyelination of the central nervous system, with the white matter of the brain being the most affected. Toluidine blue staining reveals granular reddish-yellow heterostaining material deposited in neurons, glial cells and macrophages, and also scattered throughout the white matter of the brain and in peripheral nerves. Deposits of heterochromatic material were also seen in the liver and kidneys. There are three types of the disease: late infantile, juvenile, and adult. The late infantile form is the most common and has a three-stage course. The first stage begins between the ages of 1 and 2 years. At birth and in early infancy, the child develops normally, but later gradually develops less movement, low muscle tone, and gradually loses the ability to maintain posture, unable to stand, sit, or even lift the head. In the second stage there is a further deterioration of mental retardation. There is a marked decrease in response to the environment, loss of language, screaming, bed rest, straightening of limbs, increased muscle tone (rigidity), little facial muscle movement, stereotype-like face, weakened swallowing reflex, and feeding difficulties. The third stage shows minimal peripheral response, frequent convulsive episodes, severe impairment in sucking and swallowing, and finally complete dementia, mostly dying from intermittent infections before the age of 5 years, with significant abnormalities on EEG. The juvenile type starts at the age of 4 to 15, and the adult type starts after the age of 16. The disease progresses slowly, often with loss of sensation in the extremities, and mental and behavioral abnormalities in the late stage. Treatment The disease is mainly treated symptomatically. Treatment with aryl sulfate esterase A extracted from human urine has been effective. Since this disease is harmful to the pediatric population, has a high mortality rate, and is hereditary, we should measure the activity of aryl sulfate lyase A in amniotic fluid cells during the mother’s pregnancy in the next generation with a family history of this disease, and terminate the pregnancy when the diagnosis is confirmed. Genetic diagnosis can be used to further confirm the diagnosis and provide a basis for prenatal diagnosis.