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Krabbe disease

Definition


Disease: Krabbe disease Krabbe disease
Category: Genetic Diseases

Disease Definition:

Affecting the central nervous system, Krabbe disease is an inherited and most of the time, fatal disorder.

 

Muscle tone and movement is affected by this disease. This disease could have some devastating effects, including vision and hearing loss. Even though this disease could occur in adults and older children, but it usually occurs in babies before 6 months of age.

 

The main goal of treatment for this disease is easing the symptoms. There's no cure for Krabbe disease. There has been some success in using stem cell transplants to treat Krabbe disease before the symptoms have begun.
 

Work Group:


Symptoms, Causes

Symptoms:

EARLY-ONSET KRABBE DISEASE:

This type develops in the first months of life, and is the more common type. Some of the signs and symptoms of this type of Krabbe disease may include:

 

  • Extreme irritability
  • Loss of head control
  • Feeding difficulties
  • Loss of developmental milestones
  • Vomiting
  • Seizures
  • Fevers
  • Unexplained crying
  • Progressive loss of hearing and sight
  • Spasticity, which is the presence of spasms or consistently increased muscle tone.
  • Changes in muscle tone, including poor coordination of movements and limb and muscle stiffness.

 

LATE-ONSET KRABBE DISEASE:

This type of the disease usually develops later in childhood or in adolescence. Children with this type of the disease may experience the signs and symptoms that were mentioned above, in addition to some of these signs and symptoms:

 

  • Loss of manual dexterity
  • Ataxia or gait disturbances, which cause difficulty walking
  • Visual impairment that progresses to blindness. This is sometimes the initial sign.

 

Krabbe disease progresses faster when it occurs at a younger age. When krabbe disease has been diagnosed during adolescence or adulthood, it could have less-severe symptoms. In this case, the primary symptom will be muscle weakness. People with this type of the disease may not have any impairment of their cognitive abilities.

 

Parents should have their child evaluated by a doctor in case they notice some signs and symptoms that may indicate the presence of Krabbe disease, including limb stiffness or seizures. They will be referred to a specialist with expertise in the diagnosis and management of Krabbe disease in case the doctor suspects that the child may have this disease. Parents could discuss the available treatment options with a specialist.

 

In case parents suspect the presence of Krabbe disease in their child, they should see a doctor promptly because this condition could progress rapidly.

 

Causes:

A genetic defect that causes a deficiency in an enzyme called galactocerebrosidase (GALC) causes Krabbe disease. This is an essential enzyme for the maintenance of the fatty substance that insulates the nerve fibers, called myelin.

 

Krabbe disease is sometimes referred to as globoid cell leukodystrophy. The molecules called galactolipids are stored by globoid cells. These galactolipids will accumulate in the brain in case there's no GALC. The type of galactolipid that is suspected of causing the most damage in Krabbe disease is called psychosine. When psychosine levels are high, the cells that produce myelin start to self-destruct and so damage occurs.

 

The gene for Krabbe disease is located on chromosome 14.
In order to trigger this disorder, the child should inherit an abnormal gene from each parent, which is an inheritance pattern called autosomal recessive.
 

Complications

Complications:

When Krabbe disease has progressed in children it could cause numerous complications, such as respiratory difficulties and infections. During the later stages of Krabbe disease, children usually become incapacitated and confined to their beds, eventually lapsing into a vegetative mental state.

 

Respiratory failure or complications of immobility and markedly decreased muscle tone are the complications that cause most children who have developed Krabbe disease in infancy to die before they reach the age of 2 years. Children who develop this disease later in life could have a somewhat longer life expectancy, which usually ranges between two and seven years after diagnosis.
 

Treatments:

Krabbe disease has no cure, neither does it have a specific and proven treatment. The goal of treatment for this disease is easing the symptoms. For instance, the seizures that are associated with this disease could be managed with anticonvulsant medications. Additionally, the incidence of vomiting could be reduced by other drugs.

 

Physical therapy intended to minimize deterioration of muscle tone could be beneficial for some older children with less-severe forms of the disease.
For some children, occupational therapy, which teaches achieving as much independence as possible such as learning to dress themselves, feed themselves and brush their teeth, could also be of some help.

 

Bone marrow transplantation or cord blood transfusion could have some possible benefits for Krabbe disease.

Cord blood transfusion:

In some infants with Krabbe disease, neurological symptoms have been reduced by a transfusion of blood stem cells that are obtained from the umbilical cord of unrelated donors.
Healthy donor cells have been transfused in some small studies with normal enzyme (GALC) activity into babies with Krabbe disease who have not yet developed any symptoms.

 

This treatment has shown to stimulate normal development of myelin in these babies. Babies that were treated before the symptoms have appeared were able to maintain normal hearing and vision, despite the fact that there was subsequent deterioration in language expression and in motor skills, including picking up objects or walking.

Bone marrow transplantation:

In Krabbe disease, a child's own bone marrow, which is the sponge-like material in bones, has been replaced with adult bone marrow. This procedure, which has shown to provide benefits primarily to older children who have less-severe forms of the disease or to infants that are diagnosed at birth, is called hematopoietic stem cell transplantation.
However, this treatment has not been successful for some children, especially for infants who have already developed symptoms. This treatment has also not been effective in treating fetuses diagnosed with the disease before birth, and it doesn't appear to halt or slow the progression of the disease in babies.
In order to better assess the possible benefits of this treatment, more research is needed, in addition to longer follow-up with more subjects.

 

Gene therapy could play a role in the future in the treatment of Krabbe disease, in which a functional gene is delivered through a virus to the tissue or cells, and the abnormal gene that is causing the disorder is replaced.
 

Prognosis:

Not available

Expert's opinion

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