Definition:
Krabbe disease (also called globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system.
Diagnosis:
The disease may be diagnosed by its characteristic grouping of certain cells, destruction of brain cells, and nerve demyelination and degeneration. Special stains for myelin may be used to help in diagnosis.
Treatment:
Although there is no known cure for Krabbe disease, bone marrow transplantation has been shown to benefit mild cases early in the course of the disease. Typically, treatment for the disorder is symptomatic and supportive. Physical therapy may also help maintain or increase muscle tone and circulation.
Symptoms and Signs:
Infants affected with Krabbe disease are normal at birth. Symptoms occur at the ages of 3 and 6 months with irritability, fevers, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. In the first stages of the disease, doctors usually mistake the symptoms for those of cerebral palsy. Other symptoms include muscle weakness, spasticity, optic atrophy and blindness, deafness, paralysis, and difficulty when swallowing. There may also be prolonged weight loss. There are also juvenile- and adult-onset cases of Krabbe disease, which have similar symptoms but with slower progression.
Causes:
Krabbe disease is caused by mutations in the GALC gene, which results to a deficiency of an enzyme called galactosylceramidase. The buildup of unmetabolized lipids affects the growth of the nerve's protective myelin sheath (the covering that insulates many nerves) and leads to severe degeneration of mental and motor skills.
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