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Canavan disease
Spongy degeneration of the brain; Aspartoacylase deficiency
Canavan disease is a condition that affects how the body breaks down and uses aspartic acid .
Aspartic acid
Aspartic acid is a nonessential amino acids. Amino acids are building blocks of proteins. "Nonessential" means that our bodies produce it even if w...
Causes
Canavan disease is passed down (inherited) through families. It is more common among the Ashkenazi Jewish population 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.
White matter of the brain
White matter is found in the deeper tissues of the brain (subcortical). It contains nerve fibers (axons), which are extensions of nerve cells (neuro...
Symptoms
Symptoms often begin in the first year of life. Parents tend to notice it when their child is not reaching certain developmental milestones, including head control.
Symptoms include:
- Abnormal posture with flexed arms and straight legs
- Food material flows back into the nose
- Feeding problems
- Increasing head size
- Irritability
- Poor muscle tone , especially of the neck muscles
- A lack of head control when baby is pulled from a lying to a sitting position
- Poor visual tracking, or blindness
-
Reflux
with vomiting
Reflux
Gastroesophageal reflux occurs when stomach contents leak backward from the stomach into the esophagus. This causes "spitting up" in infants....
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- Severe intellectual disability
- Swallowing difficulties
Exams and Tests
A physical exam may show:
- Exaggerated reflexes
- Joint stiffness
- Loss of tissue in the optic nerve of the eye
Tests for this condition include:
- Blood chemistry
- CSF chemistry
- Genetic testing for aspartoacylase gene mutations
- Head CT scan
- Head MRI scan
- Urine chemistry for elevated aspartic acid
Treatment
Treatment mostly aims to ease the symptoms of the disease. Lithium and other drugs are being studied.
Support Groups
Additional information and resources are available from the Canavan Foundation at www.canavanfoundation.org .
Outlook (Prognosis)
With Canavan disease, the central nervous system breaks down. People are likely to become disabled.
Central nervous system
The central nervous system is composed of the brain and spinal cord. Your brain and spinal cord serve as the main "processing center" for your entir...
Death often occurs before 18 months of age. However, some people live until they are teenagers or, rarely, young adults.
Possible Complications
This is often a fatal disorder. It includes severe disabilities such as:
- Blindness
- Inability to walk
- Intellectual disability
When to Contact a Medical Professional
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 if the parents are carriers.
A diagnosis may be made before the baby is born (prenatal diagnosis) by testing the amniotic fluid , the fluid that surrounds the womb.
Amniotic fluid
Amniotic fluid is a clear, slightly yellowish liquid that surrounds the unborn baby (fetus) during pregnancy. It is contained in the amniotic sac....
References
Matalon KM, Matalon RK. Aspartic acid (Canavan disease). In: Kliegman RM, Stanton BF, St Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 85.
Review Date: 10/27/2015
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
