Infantile irritability and sensitivity to loud sounds
Feeding difficulties
Vomiting
Failure to thrive
Unexplained fevers
Changing muscle tone from floppy to rigid
Seizures, deterioration in function of nerves in brain and body
Infant who ceases to follow faces or motion (indicates blindness)
Decreased hearing that progresses to deafness
Signs and tests:
Examination of the retina may show optic atrophy. Abnormal posturing may be evident (opisthotonos and decerebrate posturing) in late stages of the disorder. There may be signs of deafness.
Tests:
Galactocerebroside beta-galactosidase levels in white blood cells
Genetic testing for mutations in the galactosylceramidase gene (GALC)
Review Date: 4/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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