Krabbe Disease

Globoid Cell Leukodystrophy

May 8, 2008 Karla Reed

Affecting 1 in 100,000 people born in both the United States and in Europe, Krabbe Disease can lead to death before the age of 2.

Most cases of Krabbe Disease are diagnosed in infants; however a minority of patients are diagnosed in childhood and even as adults.

Cases are broken down into four types as follows:

• Type 1 (Infantile Krabbe Disease) - Infants diagnosed at age 3 to 6 months
• Type 2 (Late Infantile Disease) - Infants diagnosed at 6 months of age to 3 years of age
• Type 3 – Older children diagnosed between ages 3 to 8
• Type 4 - Patients diagnosed post the age of 8, including adults

Symptoms of Krabbe Disease

Symptoms of Krabbe Disease vary, dependent on patient age, but can include the following:

• Fever of unknown origin
• Irritability
• Vomiting
• Hyper/hyporeflexia
• Limb stiffness
• Peripheral neuropathy
• Slowing of mental and motor development
• Decreased muscle strength
• Muscle weakness
• Sluggish papillary light response
• Feeding issues/difficulties
• GI reflux
• Failure to thrive
• Macular cherry red spots
• Blindness
• Deafness
• Seizures
• Elevated protein cells in cerebral spinal fluid

Cause Of Krabbe Disease And Populations Affected

Krabbe Disease is a genetic disorder (an autosomal recessive trait) that affects both sexes equally among populations in both Europe and in the United States. There is an exception to these statistics: Sweden, which has an increased occurrence of 1.9 in 100,000 births and a single community in Israel (Druze), which has reported an occurrence in 6 per 1000 births.

The actual mechanism that causes Krabbe is the deficiency of galactocerebrosidase, an essential enzyme for myelin (an insulator of nerve fibers) metabolism.

Treatment Of Krabbe Disease

Significant increases in both life span and quality of life in infants treated with cord blood prior to the onset of symptoms have been documented in recent studies. With this in mind, several states are considering the addition of screening for Krabbes into the newborn screening panel.

After symptoms occur treatments may include the following:

• Bone marrow transplantation (if disease is in early stages)
• Physical therapy for muscle tone and circulation
• Treatment targeted for relief of symptoms (supportive care)

Method Of Diagnosis For Krabbe Disease

A GALC assay is required to diagnosis Krabbe disease. This is a specific test ordered by the physician. Krabbe disease will not appear in routine blood analysis.

Krabbe Disease Prognosis

Generally those diagnosed with Krabbe Disease in the infantile stage will die before the age of 2. Those diagnosed later in life usually will survive significantly longer.

Lifespan dependent upon type at diagnosis is as follows:

• Type 1 - Average lifespan of 13 months
• Type 2 - Most patients will die within 2 years of disease onset
• Type 3 and 4 - Varying rates of disease progression and lifespan reduction

With newborn screening identified infants can be treated prior to the onset of symptoms and will significantly increase their lifespan.

Additional Source - National Institute of Neurological Disorders and Stroke

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The copyright of the article Krabbe Disease in General Medicine is owned by Karla Reed. Permission to republish Krabbe Disease in print or online must be granted by the author in writing.

Krabbe Disease Should Be Added To Screening

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Sep 21, 2008 8:25 AM

Guest :

Yes.... it needs to be a standard part of prenatal testing in ALL states!

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