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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Canavan disease (spongy degeneration of white matter)

儿科综合

Common symptoms

视神经萎缩、肌张力降低、视力障碍、去大脑强直、婴儿喂养困难、角弓反张、惊厥

The pathology of disease

Canavan disease is ASPA deficiency; spongy degeneration of white matter; macrocephaly; hypotonia; infants; developmental regression; fatal; supportive; pediatric neurology/genetics.

Symptoms

Macrocephaly; hypotonia; developmental regression; infant; Canavan; fatal

Causes

ASPA mutation; AR; Canavan; white matter.

Treatment

Supportive; no cure; pediatric neurology/genetics; gene therapy selected

Dept

Pediatric neurology / pediatrics / genetics.

Warm reminder: Health education reference only; seek care at regular hospital.