Canavan disease - Symptom
Spongy degeneration of the brain; Aspartoacylase deficiency
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.
- Abnormal posture with flexed arms and straight legs
- Backflow of food material into the nose (nasal regurgitation)
- Feeding problems
- Increasing head size (macrocephaly)
- 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
- Severe mental retardation
- Swallowing difficulties
Signs and tests:
- Exaggerated reflexes (hyperreflexia)
- Joint stiffness
- Loss of tissue in the optic nerve of the eye (optic atrophy)
- Reviewed last on: 11/10/2010
- A.D.A.M. Editorial: David Zieve, MD, MHA, and David R. Eltz. Previously reviewed by Luc Jasmin, MD, PhD, Departments of Anatomy and Neurological Surgery, University of California, San Francisco, CA. Review provided by VeriMed Healthcare Network (10/14/2009).
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.
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