CANAVAN DISEASE

Canavan disease is rare genetic neurological disorder🧠 characterized by the spongy degeneration of the white matter in the brain. Affected infants may appear normal at birth, but usually develop symptoms between 3-6 months of age. It is caused by a mutation in the ASPA genewhich makes an enzyme called aspartoacylase.It has two types infantile and juvenile type.The infantile type usually causes severe complications and early death. The juvenile type often involves only minor developmental delays.Diagnosis is suspected based on the clinical findings of hypotonia, macrocephaly and head lag. 🧪The urine reveals a very high concentration of NAA. Cerebro-spinal fluid and blood also contain high levels of NAA. 🩻Brain CT scan or MRI show diffuse white matter degeneration and leukodystrophy progressing with age. 🧬Mutation screening can be performed for molecular diagnosis. DNA tests can detect if a person has the genetic mutation.💊There is no curative treatment for severe Canavan Disease. Management is supportive and relies on feeding assistance, physical therapy to improve the muscular status, antiepileptic drugs and therapies to improve communication skills. Research for gene therapy and enzyme replacement therapy is ongoing.