Krabbe disease–also referred to as globoid cell leukodystrophy–is an inherited medical condition that causes degeneration of the central nervous system. Patients with this condition have insufficient levels of a particular enzyme called galactocerebrosidase (GALC), which is involved in protecting the nerves. In the United States, approximately one in every 100,000 people have this condition, reports the Mayo Clinic. Early-onset Krabbe disease can be fatal, and symptoms typically develop within the first year of life. Late-onset Krabbe disease symptoms can develop in patients of any age.
Flu-like Symptoms
Symptoms most commonly develop in affected infants during the first few months of life. Initially, unexplainable flu-like symptoms can emerge, and may include fever, irritability, crying, vomiting or feeding difficulties, according to the University of Maryland Medical Center. These symptoms can prevent an affected infant from growing and thriving normally, which may increase an infant’s risk of death due to Krabbe disease.
Muscle Weakness or Seizures
During the first year of life, infants with Krabbe disease can develop muscle-related symptoms. A parent may notice that an affected infant’s muscles are unusually stiff or poorly developed. Infants may also experience frequent or severe seizures characterized by involuntary muscle spasms, explains the National Marrow Donor Program. These Krabbe disease symptoms typically worsen rapidly and may result in death before a child turns two years old.
Vision Difficulties
Vision difficulties are often the first symptom of late-onset Krabbe disease, explains the University of Maryland Medical Center. These symptoms may initially include blurred or cloudy vision, which can rapidly progress to complete blindness. Infants with early-onset Krabbe disease may also experience progressive loss of sight due to this condition.
Hearing Loss
Both early- and late-onset Krabbe disease can lead to hearing-related difficulties in affected patients. Infants with early-onset Krabbe disease may experience mild hearing loss, while patients with late-onset symptoms can develop significant hearing loss that leads to deafness.
Decreased Motor Skills and Mental Development
Decreased motor skills and poor mental development can occur as symptoms of both early- and late-onset Krabbe disease. Infants with this condition may not meet age-appropriate milestones, such as crawling, walking or talking. Poor mental development can also affect patients’ ability to learn new skills and information. Older children or adolescents with Krabbe disease can experience severe difficulty with walking due to abnormal muscle weakness or stiffness.
