Medical Health Encyclopedia

Injury Disease Nutrition Poison Symptoms Surgery Test Special Topic

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Overview Symptoms Treatment Prevention

Krabbe disease

Alternative Names: Globoid cell leukodystrophy; Galactosylcerebrosidase deficiency; Galactosylcereamidase deficiency Symptoms: 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. Text Continues Below Tests: Galactocerebroside beta-galactosidase levels in white blood cells  CSF total protein (may be increased) MRI of the head (the best test to reveal abnormal white matter of the brain) Nerve conduction velocity (showing delayed nerve conduction and evidence of demyelination) Genetic testing for mutations in the galactosylceramidase gene (GALC)

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician 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. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.