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
Other Pediatric Articles -
