What is Childhood Cerebral Leukodystrophy with Spongiform Degeneration Syndrome?

Generally, childhood cerebral white matter spongiform degeneration syndrome is a rare autosomal recessive leukodystrophy. This neurological disorder is caused by a genetic defect and primarily affects the white matter of the central nervous system. A detailed analysis is as follows:

Childhood cerebral white matter spongiform degeneration syndrome results from a deficiency of aspartoacylase, leading to extensive accumulation of N-acetylaspartate in the brain. The accumulation of this substance exerts toxic effects on the cerebral white matter, thereby causing spongiform changes. Affected children typically exhibit symptoms within a few months after birth, mainly表现为 irritability, seizures, and progressive motor and intellectual developmental delays. As the condition progresses, various severe neurological symptoms may also appear, including vision loss, blindness, and abnormal muscle tone.

If surgical intervention has been performed, special attention should be given to preventing infection. Because children have relatively low immunity and surgical wounds involving the nervous system are susceptible to pathogens such as bacteria, strict maintenance of cleanliness around the surgical wound is essential.