Find a
Location:
Find a Location
or
Find a
Provider:
Find a Doctor
and/or

Article Manager

Health Information Encyclopedia - Disease & Conditions

Search Health Information   

Canavan disease

Definition:

Canavan disease is an inherited condition that affects the breakdown and use (metabolism) of aspartic acid .



Alternative Names:

Spongy degeneration of the brain; Aspartoacylase deficiency



Causes, incidence, and risk factors:

Canavan disease is passed down (inherited) through families. It is more common among Ashkenazi Jews than in the general population.

The lack of the enzyme, aspartoacylase, leads to a buildup of material called N-acetylaspartic acid in the brain. This causes the white matter of the brain to break down (deteriorate).



Symptoms:

Symptoms usually begin in the first year of life. Parents tend to notice when a child is not reaching certain developmental milestones, including head control.

Symptoms include:

  • Abnormal posture with flexed arms and straight legs
  • Backflow of food material into the nose (nasal regurgitation)
  • Feeding problems
  • Increasing head size (macrocephaly )
  • Irritability
  • Lack of head control when baby is pulled from a lying to a sitting position (head lag)
  • Poor muscle tone , especially of the neck muscles
  • Poor visual tracking or blindness
  • Reflux with vomiting
  • Seizures
  • Severe intellectual disability
  • Swallowing difficulties


Signs and tests:
  • Exaggerated reflexes (hyperreflexia)
  • Joint stiffness
  • Loss of tissue in the optic nerve of the eye (optic atrophy)

Tests:

  • Blood chemistry
  • CSF chemistry
  • Genetic testing for aspartoacylase gene mutations
  • Head CT scan
  • Head MRI scan
  • Urine chemistry


Treatment:

Treatment mostly aims to ease the symptoms of the disease. Lithium and other drugs are being investigated.



Support Groups:

Additional information and resources are available from:



Expectations (prognosis):

With Canavan disease, the central nervous system breaks down. Patients are likely to become disabled.

Death often occurs before 18 months of age. However, some patients live until they are teenagers or, rarely, young adults.



Complications:

This is often a fatal disorder. It includes severe disabilities such as:

  • Blindness
  • Inability to walk
  • Intellectual disability


Calling your health care provider:

Call your health care provider if your child has any symptoms of Canavan disease.



Prevention:

Genetic counseling is recommended for people who want to have children and have a family history of Canavan disease. Counseling should be considered if both parents are of Ashkenazi Jewish descent. For this group, DNA testing can almost always tell whether one or both parents is a carrier.

A diagnosis may be made before the baby is born (prenatal diagnosis) by testing the amniotic fluid .



References:

Rezvani I. Defects in metabolism of amino acids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 85.




Review Date: 11/14/2011
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
adam.com


Text Only Options

Change the current font size: larger | default | smaller

Current color mode is Black on White, other available modes: Yellow on Black | Black on Cream

Current color mode is Yellow on Black, other available modes: Black on White | Black on Cream

Current color mode is Black on Cream, other available modes: Black on White | Yellow on Black

Open the original version of this page.