Krabbe Disease Causes and How It Affects Children

A Parent’s Guide to Understanding Krabbe Disease

Krabbe disease is a rare kind of genetic disorder of the nervous system that leads to death among infants before the age of two years. The main cause of this disease is genetic mutation, a permanent change in DNA sequence that constitutes a certain gene. The gene is most found on chromosome 14. The abnormal gene is generally inherited by a child from both parents to develop this disease.

Signs and Symptoms of Krabbe’s Disease

Krabbe’s disease presents differently depending on the age of onset. The earlier it appears, particularly in infancy, the faster and more severe its progression. In contrast, symptoms in older children or adolescents tend to be milder but still significantly impact quality of life.

Early-Onset Krabbe Disease

Infants with early-onset Krabbe disease may show signs such as:

• Vomiting
• Extreme irritability
• Problem with swallowing
• Unexplained fevers
• Periods of decreased consciousness
   

Neurological involvement often leads to muscle-related symptoms, including spastic contractions in the legs, knees, hips, toes, and fingers. Peripheral neuropathy further affects physical development and includes:

• Pain
• Numbness
• Weakness in muscles
• Redness
• Burning sensations
   

Late-Onset Krabbe Disease

Late onset of Krabbe disease prevails among older children and adolescents. The symptoms include:

• Loss of vision
• Lack of control of voluntary movements
• Muscle rigidity in the legs
   

Diagnosis of Krabbe Disease

Your healthcare professional will conduct a physical examination to diagnose symptoms of Krabbe disease. A blood sample is collected and sent to a laboratory for further analysis. A blood test or skin biopsy is analysed to measure the activity of the GALC enzyme. Very low or absent GALC enzyme activity is a key indicator for Krabbe disease.

Furthermore, here are some other tests performed to confirm the diagnosis of this disease:

• Nerve Conduction Test: This test helps to measure how fast an electrical impulse moves through your nervous system.
• Imaging Scans (MRI): To detect any abnormality, the healthcare professional considers an imaging scan of the brain. It further showcases diffuse demyelination among children with Krabbe disease.
• Genetic Testing: This test identifies genetic defects easily.
• Examination of Eyes: This examination detects signs of damage to the optic nerve.
• Prenatal Diagnosis: For families with a known history of Krabbe disease, prenatal testing is available. This can be done via chorionic villus sampling (CVS) or amniocentesis to measure GALC enzyme activity or to test for the known familial GALC gene mutations in the foetus.
   

Treatment of Krabbe Disease

Palliative and supportive care are the most effective approaches for treating Krabbe disease of the infantile form. For carefully selected individuals with late-onset Krabbe disease who are asymptomatic or show very minimal symptoms, haematopoietic stem cell transplantation (HSCT) may be considered. The goal of HSCT is to halt the progression of the disease, but it cannot reverse existing neurological damage. It is not a treatment option for symptomatic infantile-onset cases. This transplantation brings stability to the progression of the disease and extends the lifespan considerably of the treated individual.

HSCT, which utilizes stem cells from bone marrow, peripheral blood, or umbilical cord blood, is the specific intervention used.

Complications of Krabbe Disease

Krabbe disease in general is life-threatening if left untreated. It mainly causes damage to an individual's central nervous system. However, some other complications of this disease include:

• Deafness
• Blindness
• Significant loss of muscle tone
• Death and respiratory failure
• Mental deterioration
   

Krabbe disease usually develops in infants but can also appear later in life. There is no permanent cure for this disease yet, but with early diagnosis and treatment, symptoms can be managed. Proper consultation with healthcare professionals can also slow down the progression of the disease. Genetic counselling is a primary factor for families affected by Krabbe's disease.

To ensure your child receives the best possible care, seek help from professionals with adequate knowledge about the condition.