CANAVAN DISEASE

Symptoms usually appear during first 3 to 6 months of life with rapid progression progress rapidly. They are as follows:

• Lack of motor development
• Abnormal muscle tone
• Difficulty feeding
• Macrocephaly (abnormally large head) with poor muscle control

Some children develop:

• Paralysis
• Blindness
• Hearing loss

DIAGNOSIS

• Physician may do/request:
  • History & Physical Exam
  • CT scan or MRI scan
  • Urine/blood/cerebrospinal fluid test: To look for increased N-acetyl-L-aspartate (NAA)
  • Genetic testing for aspartoacylase gene mutations
    • Prenatal genetic diagnosis is possible by this method
    • Genetic counseling is recommended for parents with family history of Canavan Disease.
      • Parental Screening can be done to see if they are carriers of the disease.

RECOMMENDED MEDICATIONS

• No cure or standard treatment
  • Treatment is symptomatic and supportive.
    • Death usually occurs before age 10 (some live up to early 20s)
    • Poor prognosis